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Protein

Protein C8orf4

Gene

C8orf4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1 (PubMed:16424001, PubMed:16730711). Enhances the proliferation of follicular dendritic cells (PubMed:16730711). Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle (PubMed:18959821). In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity (PubMed:19684084). Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression (PubMed:17603013). Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown (By similarity). In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis (PubMed:15087392, PubMed:24941347). However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling (PubMed:25985737).By similarityCurated8 Publications

GO - Molecular functioni

  • Notch binding Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • cellular response to heat Source: UniProtKB
  • endothelial cell activation involved in immune response Source: UniProtKB
  • negative regulation of Notch signaling pathway Source: UniProtKB
  • positive regulation of NF-kappaB import into nucleus Source: UniProtKB
  • regulation of cell cycle G1/S phase transition Source: UniProtKB
  • regulation of DNA-templated transcription in response to stress Source: UniProtKB
  • regulation of hemopoiesis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176907-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C8orf4
Alternative name(s):
Thyroid cancer protein 1
Short name:
TC-1
Gene namesi
Name:C8orf4Imported
Synonyms:TC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:1357. C8orf4.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nuclear speck Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi74V → E: No effect on interaction with CBY1. 1 Publication1
Mutagenesisi86K → Q: Abolishes interaction with CBY1. Forms irregular perinuclear cytoplasmic aggregates. 1 Publication1
Mutagenesisi88T → K: Abolishes interaction with CBY1. 1 Publication1
Mutagenesisi96L → R: No effect on interaction with CBY1. Accumulates at nucleoli periphery. 1 Publication1

Organism-specific databases

DisGeNETi56892.
OpenTargetsiENSG00000176907.
PharmGKBiPA25962.

Polymorphism and mutation databases

BioMutaiC8orf4.
DMDMi296434443.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000896051 – 106Protein C8orf4Add BLAST106

Proteomic databases

PaxDbiQ9NR00.
PeptideAtlasiQ9NR00.
PRIDEiQ9NR00.

PTM databases

iPTMnetiQ9NR00.
PhosphoSitePlusiQ9NR00.

Expressioni

Tissue specificityi

Ubiquitous. Expressed in thyroid papillary carcinoma. Expressed in liver, expression levels decrease in hepatocellular carcinoma (PubMed:25985737). Slightly detected in normal lung, its expression is highly induced in lung cancer cells (at protein level) (PubMed:24941347).3 Publications

Inductioni

Induced by proinflammatory cytokines such as TNF and IL1B, via NF-kappaB signaling (PubMed:16730711, PubMed:19684084). Induced by cellular stresses such as heat shock, TPA, lipopolysaccahride and UV (PubMed:17603013). Induced by mitogens such as thrombin (PubMed:18959821).4 Publications

Gene expression databases

BgeeiENSG00000176907.
CleanExiHS_C8orf4.
GenevisibleiQ9NR00. HS.

Organism-specific databases

HPAiHPA027188.

Interactioni

Subunit structurei

Monomer. Interacts with NOTCH2 (via ANK repeats), the interaction inhibits the nuclear translocation of NOTCH2 N2ICD (PubMed:25985737). Interacts (C-terminus) with CBY1 (C-terminus), C8orf4 competes with CTNNB1 for the interaction with CBY1 (PubMed:16424001).3 Publications

GO - Molecular functioni

  • Notch binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121222. 1 interactor.
IntActiQ9NR00. 1 interactor.
STRINGi9606.ENSP00000319914.

Structurei

3D structure databases

DisProtiDP00372.
ProteinModelPortaliQ9NR00.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IXNR. Eukaryota.
ENOG410YPN0. LUCA.
GeneTreeiENSGT00390000003458.
HOGENOMiHOG000111608.
HOVERGENiHBG054954.
InParanoidiQ9NR00.
OMAiVANIFEN.
OrthoDBiEOG091G0YFM.
PhylomeDBiQ9NR00.
TreeFamiTF338287.

Family and domain databases

InterProiIPR020282. Avpi1/C8orf4.
[Graphical view]
PfamiPF15063. TC1. 1 hit.
[Graphical view]
ProDomiPD287216. Arg_vasopressin-induced_prot_1. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequencei

Sequence statusi: Complete.

Q9NR00-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKAKRSHQAV IMSTSLRVSP SIHGYHFDTA SRKKAVGNIF ENTDQESLER
60 70 80 90 100
LFRNSGDKKA EERAKIIFAI DQDVEEKTRA LMALKKRTKD KLFQFLKLRK

YSIKVH
Length:106
Mass (Da):12,337
Last modified:May 18, 2010 - v2
Checksum:i2D5C93B7E1E7AE09
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05081910V → I.2 PublicationsCorresponds to variant rs6474226dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF268037 mRNA. Translation: AAF78961.1.
AC022733 Genomic DNA. No translation available.
BC020623 mRNA. Translation: AAH20623.1.
BC021672 mRNA. Translation: AAH21672.1.
CCDSiCCDS6115.1.
RefSeqiNP_064515.1. NM_020130.4.
UniGeneiHs.591849.
Hs.745031.

Genome annotation databases

EnsembliENST00000315792; ENSP00000319914; ENSG00000176907.
GeneIDi56892.
KEGGihsa:56892.
UCSCiuc003xnq.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF268037 mRNA. Translation: AAF78961.1.
AC022733 Genomic DNA. No translation available.
BC020623 mRNA. Translation: AAH20623.1.
BC021672 mRNA. Translation: AAH21672.1.
CCDSiCCDS6115.1.
RefSeqiNP_064515.1. NM_020130.4.
UniGeneiHs.591849.
Hs.745031.

3D structure databases

DisProtiDP00372.
ProteinModelPortaliQ9NR00.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121222. 1 interactor.
IntActiQ9NR00. 1 interactor.
STRINGi9606.ENSP00000319914.

PTM databases

iPTMnetiQ9NR00.
PhosphoSitePlusiQ9NR00.

Polymorphism and mutation databases

BioMutaiC8orf4.
DMDMi296434443.

Proteomic databases

PaxDbiQ9NR00.
PeptideAtlasiQ9NR00.
PRIDEiQ9NR00.

Protocols and materials databases

DNASUi56892.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315792; ENSP00000319914; ENSG00000176907.
GeneIDi56892.
KEGGihsa:56892.
UCSCiuc003xnq.3. human.

Organism-specific databases

CTDi56892.
DisGeNETi56892.
GeneCardsiC8orf4.
HGNCiHGNC:1357. C8orf4.
HPAiHPA027188.
MIMi607702. gene.
neXtProtiNX_Q9NR00.
OpenTargetsiENSG00000176907.
PharmGKBiPA25962.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXNR. Eukaryota.
ENOG410YPN0. LUCA.
GeneTreeiENSGT00390000003458.
HOGENOMiHOG000111608.
HOVERGENiHBG054954.
InParanoidiQ9NR00.
OMAiVANIFEN.
OrthoDBiEOG091G0YFM.
PhylomeDBiQ9NR00.
TreeFamiTF338287.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176907-MONOMER.

Miscellaneous databases

ChiTaRSiC8orf4. human.
GeneWikiiC8orf4.
GenomeRNAii56892.
PROiQ9NR00.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176907.
CleanExiHS_C8orf4.
GenevisibleiQ9NR00. HS.

Family and domain databases

InterProiIPR020282. Avpi1/C8orf4.
[Graphical view]
PfamiPF15063. TC1. 1 hit.
[Graphical view]
ProDomiPD287216. Arg_vasopressin-induced_prot_1. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Entry informationi

Entry nameiCH004_HUMAN
AccessioniPrimary (citable) accession number: Q9NR00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.