博资考细节

选择nccit的理由

20230819 CARPID

276 enriched 5’UTR proteins

187 enriched 3’UTR proteins

150个蛋白是二者交集

126 elements included exclusively in “5’UTR_NT”:
126 elements included exclusively in “5’UTR_NT”:
SH3BGRL3
ARPC4-TTLL3
HIST2H2AB
U2AF1
GLIPR2
SRP14
MRPS36
GJC1
RAB6B
TAGLN3
SNAP23
SKP1
BASP1
H1F0
GRTP1
PPIA
ARPC1A
SNRPD3
ARPC3
HADHA
ARPC1B
ERVK-7
MFGE8
GNB2
ARHGAP23
HIST2H3PS2
BANF1
SRGAP2B
DSTN
CDC42
FLOT2
H3F3B
RAP1B
DLD
MYO19
FLOT1
JUP
ACTN3
PPP1CC
TCP1
CLIC4
FMNL2
VDAC2
IMMT
PTBP1
GNAI2
NEXN
NOP56
EFNA5
CYFIP1
PRDX1
EIF3D
IGF2BP1
PRKAR2A
SIPA1
HNRNPAB
PEAK1
AP2M1
MYL6B
HSPA9
CDH2
GNB2L1
DAPK3
DSG2
EEF2
CTNNB1
HADHB
SMPDL3B
CTNNA1
RAP2C
SAMM50
SFPQ
LYN
IQGAP1
TRIOBP
GTF2I
CALD1
CSNK2A1
HIST1H2AH
NONO
PARP1
CCT3
CTNNA2
RPL35
OSBPL8
SIPA1L2
AP2A2
RPS13
TUFM
PPP1R12B
HNRNPK
EIF4A2
XRCC6
LRCH3
DST
DDX1
AP2B1
DDX18
RPL10
KIF23
SHROOM3
HIST1H1C
COPA
HNRNPA1
MATR3
GLG1
RPL8
RPL21
DOCK7
ABCD3
PRKDC
RPS23
TWF1
UACA
AP2A1
TUBB2B
RPL32
HNRNPC
MYO5C
CAPZB
RPL22
RPS24
RPLP0
SLC25A5
ARHGAP11A
RPS16
150 common elements in “5’UTR_NT” and “3’UTR_NT”:
150 common elements in “5’UTR_NT” and “3’UTR_NT”:
SKOR1
RAC1
DLST
ACTRT1
RPL9
CD59
EFHD1
ATP5O
OGDH
SRP9
GNG12
RPS4X
ACTR2
RBPMS2
DCTN6
ACTR3
MACF1
RPS15
FLNA
SH3BGRL2
ALPL
CLTC
MYO1D
RPL26
SPTAN1
LRRFIP2
MYO5A
THY1
CGN
ARPC2
ENO1
ACTN4
MYO5B
HNRNPA3
MYO18A
L1TD1
FLII
N4BP3
HSPA5
NAP1L1
PRPF19
RPS15A
FLNB
TJP1
GJA1
SIPA1L1
TPM1
PHGDH
DHX9
GPC4
U2AF2
HSP90AB2P
SPTBN1
EZR
ACTN1
DNMT3B
PPP1CB
NUDC
GNB1
ATP5B
DAPK1
ATAD3A
GAS2L3
RCN2
TPM3
DDX3X
SVIL
FASN
SPECC1
HNRNPM
GNAI3
SYNCRIP
LUZP1
CFL1
WDR1
HSPA8
LUC7L2
MYO1B
RPL38
ABLIM1
AKAP2
RPL17
MYO1C
DDX5
DDX21
PPP1CA
PPP1R12A
TFRC
FBXO46
MYO1E
SORBS2
CAPZA1
RPS2
RPLP2
CORO1B
FGD4
KIAA1671
SPECC1L
TRIM28
DCTN5
TPRN
AIF1L
SIPA1L3
CALM2
HNRNPU
RPL23
MYO6
ARHGAP21
CAPZA2
TMOD3
HIST1H4A
PLS3
CORO2A
HIST3H2BB
RPL4
RPS8
DCTN4
SLC25A3
RPLP1
CORO1C
MYH14
ACTR10
HSP90AB1
LMNB1
RPS20
CORO2B
PPP1R9A
EFHD2
LIMA1
RPL14
ATP5C1
RPL13A
MPRIP
MYL12A
MYH10
MYL6
RPL13
HNRNPF
RPS10
MYH9
ACTG1
PHB2
RPS6
RPL18
TUBA1C
RPL27
DBN1
RPS3
RPS27A
TUBB4B
37 elements included exclusively in “3’UTR_NT”:
37 elements included exclusively in “3’UTR_NT”:
RBM39
RBMX
TUBB6
WDR87
HNRNPH1
RPS18
NLRP2
RPL19
RPL27A
RPS5
RPL7A
RPL30
NES
RPL11
RPL3
PLEKHG3
RPL6
TWF2
ATP5J2-PTCD1
TUBB3
RPS25
RPL12
FBL
PKM
SNRNP200
RPL18A
RPS27L
RPL5
RPS3A
XRCC5
SRSF3
ARGLU1
RPS26
RPL28
ACTBL2
ACTC1
VDAC1

20230921 CARPID (nuclear)

127 enriched LINE1 5’UTR-associated proteins (p<0.05; Fold change>2)
RPL12
RPLP1
RPS26
RPLP2
H1F0
SREK1IP1
ARPC5L
HNRNPAB
RAB1B
RPS5
SLC16A1
ACTN1.1
PCBP1
ACTN3
HCCS
HNRNPL
PHB
SERPINB9
CFL2
HNRNPA3
ATP5B
RBM14
EEF1G
DSTN
PHGDH
MYH14
HSPA5
RPL26
DNMT3B
MYO6
HNRNPU
RPL4
GAPDH
HNRNPM
GAS2L3
SMARCA5
YBX1
HNRNPC
RPS23
DHX9
RPL7A
HSP90AB1
CFL1
PCBP2
DDX5
RPL10
CAPZA1
EFHD2
RPL35
IQGAP1
RPS27A
WDR1
IMPDH1
TUBB2B
RPL36
RPS20
HIST1H2BN
TMOD3
ACTB
HIST2H3PS2
RPS25
RPS8
RPL19
ACTN4.2
TUBA1A
CCT6A
RPL24
VIM
RPS2
ACTN1
RPL13
HSPA8
H3F3B
MYL6
PHB2
RPL23A
RPS16
RPS9
FAU
RPL27
RPL13A
ACTR2
CAPZB
RPL18
PLS3
SPATA16
RPL22
GPC4
RPL7
ARGLU1
ARPC1B
TCP1
TFRC
DDX3X
TAGLN3
RPL14
PKM
NAP1L1
ATP5A1
ARPC4-TTLL3
RPL30
RPS24
CORO1C
ACTR3
HNRNPD
NPM1
HNRNPF
TWF1
PRDX1
RPL18A
HIST1H4A
TUBA1C
CAPZA2
SLC25A5
RAN
TUBB
ARPC1A
ACTN4
HIST1H2AH
SH3BGRL2
RPS3
EFHD1
RPL38
NCL
RPLP0
RPL27A
EEF1A1

20240321 MS2

371 elements in 5’UTR_EF1a
GPN1
DIABLO
AGTRAP
F5
CPD
ARR3
PSMB7
TFE3
ZCRB1
NDUFA13
DHRS7
GLG1
TPP1
MT-CO3
TMF1
PDZD11
TBCK
PAM16
IGF2R
COX4I1
TMEM41A
NDUFAF2
CHCHD4
CEP135
ZNF300
ZNF852
FOXO3
JPT1
SMG8
PYM1
PSAP
ZMAT3
MRPL47
STK38
B2M
GRHPR
FKBP15
FMNL2
OXCT1
ZNF28
EPHX2
SDHA
PPP2R1B
FADS3
RHOG
DERL2
SNAPIN
LAMTOR3
ARPC5L
AP3M2
PACSIN3
TMOD2
PPM1J
SECISBP2L
RPLP1
JMY
VTN
RCN1
ZMPSTE24
BTF3L4
EXOSC6
BORCS5
NIP7
NDUFB11
HBB
CERS2
MRPS2
MTFP1
ARPC4
RPP25L
GSKIP
MIGA1
ZSWIM9
ZFTRAF1
EMC8
PDZD4
SESN2
HMGN1
PMVK
RPS29
ATP2B4
KIAA0930
RPS15
UBE2T
ZNF146
PDPR
LRCH2
USP33
SCP2
HSPE1
GOLGA5
ARHGAP39
FAH
ERP29
GPX1
METTL2A
HSD17B11
PEX14
SV2A
HMGN2
MRPL39
PPIP5K1
NDC80
STMN1
BNIP3
PGRMC2
ZNF428
BSG
GAK
ENOPH1
ACAA2
HINFP
ZBTB1
ENO3
RHOA
SRF
MKLN1
AHSG
DNAAF10
SCARB1
FOXN3
TIMM21
PFDN1
NAPG
TPI1
PTMS
TMEM256
LRRC57
MYH11
DYNC1I2
SET
MED7
ZDHHC18
SSR1
SDHB
TSC1
ADD3
PAFAH1B2
LSM6
ZNF652
CALU
PTMA
YBX1
RTN4
KDM3A
EIF1AY;EIF1AX
ATP1B3
LSM5
HINT3
VPS36
COX5A
CALM1;CALM2;CALM3
EIF4E
APP
ERMP1
TPD52
TIMM23
TXNDC17
CCDC124
FLNC
CIAO3
CCDC85A
ZBED4
MCM9
EEF1D
JRKL
MICU1
PFKFB3
SAMM50
PCIF1
CHMP1A
SUCLG1
PDIA3
RRS1
NUP37
LDHA
AIMP1
RPS19
HBA2
MOCS2
ZFYVE16
RSAD1
HLA-A
PDIA6
BASP1
HADHB
PJA2
TIGD2
CYB5R3
IARS1
ENO1
ZNF90
SGPL1
ASCC2
MAP3K4
PGK1
RPLP2
RPF2
PPP1R14B
GSTO1
BCAP31
UPRT
PPIB
FLNA
HSPA14
SRP14
ZNF496
AIMP2
RBM41
HMGA1
DCXR
DCTN4
MAP4K2
RMDN3
DNAJB11
ZFAND6
ATP5PO
HCFC2
AKR1B1
STX8
ANP32B
KIF17
RNASEH2A
UBA52
SPAST
ELL2
DPH1
ZNF581
SEC23IP
DARS1
DPP3
FKBP3
MIER2
LDHB
PKP2
THAP4
UBE2K
SEC16A
DIP2A
MYL1;MYL3
EIF2S1
BACH1
ZNF775
MARS1
ALYREF
CIZ1
NME2
CAMK2B
DBN1
QARS1
SUMO2
RARS1
EPRS1
CHCHD2P9;CHCHD2
RPS6
PSMD2
CKAP4
PBXIP1
SRP9
EIF2S2
CDIPT
CHMP5
RANBP1
RPSA
ALB
SNX18
SLMAP
RBM34
NTPCR
RBM28
NEMF
UNC45A
HSP90B1
ABT1
MIB1
BANP
SUPT16H
WASL
CCT3
CKB
TMEM214
HOMER1
LARS1
ROR1
OTUD6B
VCL
RBFA
GOLGB1
RANBP2
PAFAH1B1
SPAG5
RPL26L1
EZR
EEF1E1
PSMC2
SLC25A24
RRN3
PLEKHG4
ATAD3A
MTIF2
FLNB
ACTR3
SLC25A22
LRRC59
PSMD13
ZMAT2
SLF2
RPL14
WNK3
PARK7
PSMD11
PTGES3
YWHAZ
MYH10
HSD17B4
KPNB1
SSRP1
UBE2N
PSMC4
ECH1
PSMD9
TBCD
EHD4
NOP2
MTDH
PSMC6
SNX9
ZCCHC4
SRP68
EAF1
EBNA1BP2
RPS13
GRWD1
SARNP
MED21
EDC3
ANXA5
MRE11
PDCD7
PSMA4
GFPT1
DPYSL3
DMXL1
PPME1
PRKACB
SPTBN1
EBP
KEAP1
HSP90AB2P
IQGAP2
NFKB2
CPT2
SLC30A7
ARG1
NLN
TRIM26
SKP1
ZNF574
TUBA1C
SNRNP40
PSMC5
RAB21
FGD6
RAB12
CLIC1
TTLL12
RSBN1
TBC1D2
NCKAP1
RPL35A
CHD1
159 elements in Full_EF1a
GPN1
DIABLO
AGTRAP
CPD
ARR3
TMF1
TBCK
SCAMP4
DHRS7
KLHL12
NDUFA13
TPP1
IGF2R
PAM16
FOXO3
TMEM41A
COX4I1
GLG1
SOX3
PDZD11
TRAPPC2L
JPT1
KDF1
NDUFAF2
CHCHD4
MT-CO3
OXCT1
ZMAT3
MCF2L
SPRR2E;SPRR2D;SPRR2B;SPRR2A;SPRR2G
FMNL2
CEP135
B2M
STK38
ZNF852
PYM1
GRHPR
FKBP15
AIRE
ZNF28
ARPC5L
EXOSC6
CAMK2G
RPLP1
MAP1LC3B2;MAP1LC3B;MAP1LC3A
GOLGA5
RPP25L
HBB
ARL8B
PDZD4
RCN1
ZFP36L2
BSG
H2AC19
MYL6
SET
STUB1
OSTC
ATP1B3
SFMBT2
SESN2
ERP29
TOM1L1
ENO3
GSKIP
HMGN1
TPI1
BASP1
ACD
RPS15
STMN1
H3C13
ACAA2
PPM1J
HSPE1
APP
TIGD2
ENO1
H2BC12;H2BC5;H2BC10;H2BC18;H2BC9;H2BC15;H2BC14
LAMP1
YBX1
SCARB1
PDIA3
RPLP2
SARS1
EEF1D
PTMA
P4HB
PPP1R9A
LIN7A;LIN7B;LIN7C
MYH10
LDHB
SSR1
RPSA
LRRC57
TXNDC17
MYL1;MYL3
L1RE1
SGPL1
CS
PGK1
ELL2
MAP3K4
RNPS1
PSAT1
MDH2
MYH9
PCIF1
RPS19
LDHA
EEA1
MAP4K2
EBP
RPLP0
HSD17B4
UCKL1
DPYSL3
BCAP31
CLTC
PAWR
SHC1
RAP2B
GEMIN2
MIB1
ERMP1
CCT3
YWHAZ
ACTR3
ADD3
STX8
SMARCA2
TMEM214
MAEA
AIMP1
MCM10
SRRM2
RANBP1
NAP1L1
TPM3
SNX18
RPF2
ESRP1
ARG1
EZR
PAK4
RNPEP
SRP14
KEAP1
SLMAP
TAF9
SREK1
C1orf131
EIF4B
STK10
SARNP
ALPL
PGM1
SAAL1
DDX59
101 elements in both 5UTR_EF1a and Full_EF1a
ENO3
SLMAP
YBX1
GSKIP
ACTR3
OXCT1
MYL1;MYL3
ENO1
PTMA
NDUFA13
JPT1
ADD3
TMEM41A
MAP4K2
ZNF852
TIGD2
SRP14
PPM1J
ERP29
CEP135
HMGN1
CPD
SET
ARPC5L
PDZD11
LDHA
STX8
BASP1
MYH10
RPP25L
PDIA3
RANBP1
SARNP
ARG1
B2M
TBCK
SNX18
ARR3
NDUFAF2
TPP1
TMEM214
MT-CO3
ZNF28
DHRS7
EEF1D
IGF2R
TPI1
GRHPR
COX4I1
SGPL1
PDZD4
ELL2
EXOSC6
LRRC57
DIABLO
GOLGA5
RPLP1
FOXO3
RCN1
HSD17B4
SCARB1
AIMP1
FMNL2
BCAP31
LDHB
STK38
KEAP1
ACAA2
PAM16
TXNDC17
ATP1B3
RPLP2
SESN2
EZR
ERMP1
CCT3
PYM1
HSPE1
CHCHD4
GPN1
TMF1
GLG1
MIB1
RPS19
RPSA
DPYSL3
ZMAT3
STMN1
FKBP15
AGTRAP
APP
MAP3K4
RPF2
HBB
SSR1
EBP
BSG
YWHAZ
PGK1
PCIF1
RPS15

CARPID150 with MCP-MS101

用第一次CARPID的5UTR和3UTR的150 elements

MCP-MS2的5UTR和full的101 elements取交集

有7个proteins: ACTR3 ENO1 RPLP1 RPLP2 EZR MYH10 RPS15

CARPID276+CARPID127 with MCP-MS371

用第一次CARPID的5UTR (276)与第二次CARPID的5UTR(127)

MCP-MS2的5UTR(371)取交集

有29个proteins:

逐个看一下这29个proteins的功能

核糖体相关:

RPLP1, RPLP2, RPL14, RPS6, RPS13, RPS15形成processed pseudogenes.

RPLP1, RPLP2, RPL14都是核糖体60S亚基的组分。

RPS6, RPS13, RPS15是核糖体40S亚基的组分。

SRP9, SRP14已知跟核糖体有相互作用。

细胞骨架相关:

ACTR3

TUBA1C

ARPC5L

DCTN4: located in centromere

SPTBN1: an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton.

EZR:  As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton.  有1个pseudogene.

CCT3: The complex folds various proteins, including actin and tubulin. 有1个pseudogene.

DBN1: The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth

MYH10: myosin superfamily, actin-dependent motor proteins.

FLNB: a member of the filamin family. binds the actin cytoskeleton.

FLNA: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins.

FMNL2: formin-related proteins (成蛋白)

Exosome:

HSP90AB2P, lcoated in extracellular exosome.

ARPC5L, Located in extracellular exosome and focal adhesion.

Mitochondria:

ATAD3A: This gene encodes a ubiquitously expressed mitochondrial membrane protein

SAMM50, This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane

HADHB, This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs.

ATAD3A, This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. 

其他:

YBX1 is both DNA and RNA binding protein. YBX-1形成pseudogenes. a component of messenger ribonucleoprotein (mRNP) complexes

SRP14: RNA binding activity

SRP9: RNA binding activity

BASP1看似无关

SAMM50看似无关

GLG1看似无关

Skp1, SCF complex组分(E3泛素连接酶). 有1个pseudogene

ACTR3The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
RPLP1Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
TUBA1CPredicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule cytoskeleton and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
RPLP2Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL14Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5′-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
YBX1This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]
ARPC5LPredicted to enable actin filament binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation and cell migration. Located in extracellular exosome and focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]
DCTN4Enables protein N-terminus binding activity. Located in centrosome.
SRP14Enables RNA binding activity. Involved in protein targeting to ER. Located in nucleus. Part of signal recognition particle, endoplasmic reticulum targeting.
RPS6Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 
BASP1This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein.
SKP1This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]
HSP90AB2PPredicted to enable ATP binding activity; disordered domain specific binding activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Located in extracellular exosome.
SPTBN1Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SAMM50This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
EZRThe cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
CCT3The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
GLG1Predicted to enable fibroblast growth factor binding activity. Predicted to act upstream of or within several processes, including negative regulation of protein processing; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of chondrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
DBN1The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer’s disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
RPS13Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
HADHBThis gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
ENO1This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]
MYH10This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
FLNBThis gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
FMNL2This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
FLNAThe protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
ATAD3AThis gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
SRP9Predicted to enable RNA binding activity and signal recognition particle binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane. Predicted to be located in cytosol. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Apr 2022]
RPS13Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]