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Protein

Protein C8orf37

Gene

C8orf37

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

Functioni

May be involved in photoreceptor outer segment disk morphogenesis (By similarity).By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C8orf37
Gene namesi
Name:C8orf37
Synonyms:smalltalk
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000156172.5
HGNCiHGNC:27232 C8orf37
MIMi614477 gene
neXtProtiNX_Q96NL8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy 16 (CORD16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:614500
Retinitis pigmentosa 64 (RP64)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:614500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067306182Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar.1
Bardet-Biedl syndrome 21 (BBS21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:617406

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Cone-rod dystrophy, Disease mutation, Obesity, Retinitis pigmentosa

Organism-specific databases

DisGeNETi157657
GeneReviewsiC8orf37
MalaCardsiC8orf37
MIMi614500 phenotype
617406 phenotype
OpenTargetsiENSG00000156172
Orphaneti1872 Cone rod dystrophy
791 Retinitis pigmentosa
PharmGKBiPA142672356

Polymorphism and mutation databases

BioMutaiC8orf37
DMDMi74732592

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002710581 – 207Protein C8orf37Add BLAST207

Proteomic databases

EPDiQ96NL8
MaxQBiQ96NL8
PaxDbiQ96NL8
PeptideAtlasiQ96NL8
PRIDEiQ96NL8
ProteomicsDBi77536

PTM databases

iPTMnetiQ96NL8
PhosphoSitePlusiQ96NL8

Expressioni

Tissue specificityi

Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000156172
CleanExiHS_C8orf37
GenevisibleiQ96NL8 HS

Organism-specific databases

HPAiHPA024198

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CAPNS1P046322EBI-11904873,EBI-711828

Protein-protein interaction databases

BioGridi127610, 4 interactors
IntActiQ96NL8, 2 interactors
STRINGi9606.ENSP00000286688

Structurei

3D structure databases

ProteinModelPortaliQ96NL8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IVWJ Eukaryota
ENOG4112BQE LUCA
GeneTreeiENSGT00390000006173
HOGENOMiHOG000006595
HOVERGENiHBG080252
InParanoidiQ96NL8
OMAiSKFCRPD
OrthoDBiEOG091G0TBZ
PhylomeDBiQ96NL8
TreeFamiTF328851

Family and domain databases

InterProiView protein in InterPro
IPR029239 C8orf37
PANTHERiPTHR33958 PTHR33958, 1 hit
PfamiView protein in Pfam
PF14996 RMP, 1 hit

Sequencei

Sequence statusi: Complete.

Q96NL8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET
60 70 80 90 100
LRSTETFKKE DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL
110 120 130 140 150
GKSCSPVYLG GSSIPCGIGT NISWRACDHL RCIACDFLVV SYDDYMWDKS
160 170 180 190 200
CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA CQCSWRTIEE VTDLQTDHQL

RWVCGKH
Length:207
Mass (Da):23,381
Last modified:December 1, 2001 - v1
Checksum:i86B438BB7093C7A5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03368319P → A. Corresponds to variant dbSNP:rs36096184EnsemblClinVar.1
Natural variantiVAR_067305177R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar.1
Natural variantiVAR_067306182Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055162 mRNA Translation: BAB70866.1
GQ240139 mRNA Translation: ADE62519.1
AP003466 Genomic DNA No translation available.
AC024995 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91744.1
CH471060 Genomic DNA Translation: EAW91745.1
CCDSiCCDS6268.1
RefSeqiNP_808880.1, NM_177965.3
UniGeneiHs.548157

Genome annotation databases

EnsembliENST00000286688; ENSP00000286688; ENSG00000156172
GeneIDi157657
KEGGihsa:157657
UCSCiuc003yho.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCH037_HUMAN
AccessioniPrimary (citable) accession number: Q96NL8
Secondary accession number(s): F4Y588
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 101 of the entry and version 1 of the sequence. See 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

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