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Protein

Protein C8orf37

Gene

C8orf37

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:27232. C8orf37.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.
See also OMIM:614500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771R → W in CORD16. 1 Publication
Corresponds to variant rs387907136 [ dbSNP | Ensembl ].
VAR_067305
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821Q → R in RP64. 1 Publication
Corresponds to variant rs387907137 [ dbSNP | Ensembl ].
VAR_067306

Keywords - Diseasei

Cone-rod dystrophy, Retinitis pigmentosa

Organism-specific databases

MalaCardsiC8orf37.
MIMi614500. phenotype.
Orphaneti1872. Cone rod dystrophy.
791. Retinitis pigmentosa.
PharmGKBiPA142672356.

Polymorphism and mutation databases

BioMutaiC8orf37.
DMDMi74732592.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 207207Protein C8orf37PRO_0000271058Add
BLAST

Proteomic databases

EPDiQ96NL8.
MaxQBiQ96NL8.
PaxDbiQ96NL8.
PeptideAtlasiQ96NL8.
PRIDEiQ96NL8.

PTM databases

iPTMnetiQ96NL8.
PhosphoSiteiQ96NL8.

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.
ExpressionAtlasiQ96NL8. baseline and differential.
GenevisibleiQ96NL8. HS.

Organism-specific databases

HPAiHPA024198.

Interactioni

Protein-protein interaction databases

BioGridi127610. 1 interaction.
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

InterProiIPR029239. C8orf37.
[Graphical view]
PfamiPF14996. RMP. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191P → A.
Corresponds to variant rs36096184 [ dbSNP | Ensembl ].
VAR_033683
Natural varianti177 – 1771R → W in CORD16. 1 Publication
Corresponds to variant rs387907136 [ dbSNP | Ensembl ].
VAR_067305
Natural varianti182 – 1821Q → R in RP64. 1 Publication
Corresponds to variant rs387907137 [ dbSNP | Ensembl ].
VAR_067306

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055162 mRNA. Translation: BAB70866.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055162 mRNA. Translation: BAB70866.1.
CCDSiCCDS6268.1.
RefSeqiNP_808880.1. NM_177965.3.
UniGeneiHs.548157.

3D structure databases

ProteinModelPortaliQ96NL8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127610. 1 interaction.
STRINGi9606.ENSP00000286688.

PTM databases

iPTMnetiQ96NL8.
PhosphoSiteiQ96NL8.

Polymorphism and mutation databases

BioMutaiC8orf37.
DMDMi74732592.

Proteomic databases

EPDiQ96NL8.
MaxQBiQ96NL8.
PaxDbiQ96NL8.
PeptideAtlasiQ96NL8.
PRIDEiQ96NL8.

Protocols and materials databases

DNASUi157657.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi157657.
GeneCardsiC8orf37.
GeneReviewsiC8orf37.
HGNCiHGNC:27232. C8orf37.
HPAiHPA024198.
MalaCardsiC8orf37.
MIMi614477. gene.
614500. phenotype.
neXtProtiNX_Q96NL8.
Orphaneti1872. Cone rod dystrophy.
791. Retinitis pigmentosa.
PharmGKBiPA142672356.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii157657.
PROiQ96NL8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156172.
CleanExiHS_C8orf37.
ExpressionAtlasiQ96NL8. baseline and differential.
GenevisibleiQ96NL8. HS.

Family and domain databases

InterProiIPR029239. C8orf37.
[Graphical view]
PfamiPF14996. RMP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCH037_HUMAN
AccessioniPrimary (citable) accession number: Q96NL8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: September 7, 2016
This is version 86 of the entry and version 1 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.