Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Uncharacterized protein C2orf71

Gene

C2orf71

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

Functioni

May play an important role in the development of normal vision.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C2orf71
Gene namesi
Name:C2orf71
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:34383. C2orf71.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 54 (RP54)3 Publications
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:613428
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063395201I → F in RP54; induces proteasomal degradation. 1 PublicationCorresponds to variant rs267606690dbSNPEnsembl.1
Natural variantiVAR_065273372D → N in RP54. 1 PublicationCorresponds to variant rs201284350dbSNPEnsembl.1
Natural variantiVAR_065275612L → P in RP54. 1 PublicationCorresponds to variant rs200758183dbSNPEnsembl.1
Natural variantiVAR_065276615V → D in RP54. 1 PublicationCorresponds to variant rs140776870dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi388939.
MalaCardsiC2orf71.
MIMi613428. phenotype.
OpenTargetsiENSG00000179270.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162379508.

Polymorphism and mutation databases

BioMutaiC2orf71.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedSequence analysis
ChainiPRO_00003290782 – 1288Uncharacterized protein C2orf71Add BLAST1287

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineSequence analysis1
Lipidationi3S-palmitoyl cysteineSequence analysis1

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

PaxDbiA6NGG8.
PRIDEiA6NGG8.

PTM databases

iPTMnetiA6NGG8.
PhosphoSitePlusiA6NGG8.

Expressioni

Tissue specificityi

Specifically expressed in retina.1 Publication

Gene expression databases

BgeeiENSG00000179270.
CleanExiHS_C2orf71.
GenevisibleiA6NGG8. HS.

Organism-specific databases

HPAiHPA051819.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000332809.

Structurei

3D structure databases

ProteinModelPortaliA6NGG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1013 – 1095Pro-richAdd BLAST83

Phylogenomic databases

eggNOGiENOG410IIKW. Eukaryota.
ENOG410YIZU. LUCA.
GeneTreeiENSGT00390000002768.
HOGENOMiHOG000111330.
HOVERGENiHBG094872.
InParanoidiA6NGG8.
OMAiADNESVQ.
OrthoDBiEOG091G0106.
PhylomeDBiA6NGG8.
TreeFamiTF336604.

Family and domain databases

InterProiIPR029352. Retinal_C2orf71.
[Graphical view]
PfamiPF15449. Retinal. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

A6NGG8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC
60 70 80 90 100
YDAGEGLAEE QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS
110 120 130 140 150
SQLNKSQSHM AKDIPFKTQG SHGSQGADFS GDESEESSTQ DTSKWKRTAK
160 170 180 190 200
CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL VKAHQQAYTY LHSSLSKYEA
210 220 230 240 250
ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG EVLLQEVRED
260 270 280 290 300
LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL
310 320 330 340 350
HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS
360 370 380 390 400
GIGADNESVQ SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS
410 420 430 440 450
PFCLGSGRPQ DCLLSGAPMA KVQPRAQDEA RSPCLSSTSP ENITSPPLKL
460 470 480 490 500
GTSTPCDSFG IGVSVEPHLS KTSRPMDASS LSDSEDSSPE EEEEDKMSSM
510 520 530 540 550
SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM ILKMKESISE
560 570 580 590 600
RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL
610 620 630 640 650
QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW
660 670 680 690 700
PNGTCRVSPS NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG
710 720 730 740 750
KLPNAIPSGE VSEAAKATDW NVRGCPTRTS VKKLIETFSP TESLRMLGDS
760 770 780 790 800
KDAGASPCLR NCIMPPRFPK YTGLAPLYPK PQISPASGRE SLKMGIGWKP
810 820 830 840 850
LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD KSFASLESPE
860 870 880 890 900
SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL
910 920 930 940 950
TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL
960 970 980 990 1000
YRQPRKAIAW HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH
1010 1020 1030 1040 1050
WVPQADKRRR SLPSSYRPAQ PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP
1060 1070 1080 1090 1100
PHQPKLPNPP PESAPAQCKV PSPPTQHPEA SPPFSIPSPS PPMSPSQEHK
1110 1120 1130 1140 1150
ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA HPLTPPSLPP
1160 1170 1180 1190 1200
EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG
1210 1220 1230 1240 1250
GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR
1260 1270 1280
ASPPEFCVLG HGLQPEPRTG HIQDKSQPEA QPQQEEVS
Length:1,288
Mass (Da):139,655
Last modified:July 24, 2007 - v1
Checksum:i97AC10B7AB0ED158
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04264613S → C.1 PublicationCorresponds to variant rs10084168dbSNPEnsembl.1
Natural variantiVAR_063395201I → F in RP54; induces proteasomal degradation. 1 PublicationCorresponds to variant rs267606690dbSNPEnsembl.1
Natural variantiVAR_065267227E → K.1 PublicationCorresponds to variant rs114057537dbSNPEnsembl.1
Natural variantiVAR_065268247V → A.1 PublicationCorresponds to variant rs77828062dbSNPEnsembl.1
Natural variantiVAR_065269252A → D.1 PublicationCorresponds to variant rs77003681dbSNPEnsembl.1
Natural variantiVAR_065270258R → I.1 PublicationCorresponds to variant rs116156338dbSNPEnsembl.1
Natural variantiVAR_065271312S → N.1 Publication1
Natural variantiVAR_065272320R → C.1 PublicationCorresponds to variant rs374283240dbSNPEnsembl.1
Natural variantiVAR_065273372D → N in RP54. 1 PublicationCorresponds to variant rs201284350dbSNPEnsembl.1
Natural variantiVAR_065274378E → K.1 PublicationCorresponds to variant rs201900716dbSNPEnsembl.1
Natural variantiVAR_042647421K → R.1 PublicationCorresponds to variant rs17007544dbSNPEnsembl.1
Natural variantiVAR_042648580T → M.1 PublicationCorresponds to variant rs10166913dbSNPEnsembl.1
Natural variantiVAR_065275612L → P in RP54. 1 PublicationCorresponds to variant rs200758183dbSNPEnsembl.1
Natural variantiVAR_065276615V → D in RP54. 1 PublicationCorresponds to variant rs140776870dbSNPEnsembl.1
Natural variantiVAR_065277628A → T.1 PublicationCorresponds to variant rs571059484dbSNPEnsembl.1
Natural variantiVAR_065278648A → P.1 Publication1
Natural variantiVAR_065279688C → Y.1 PublicationCorresponds to variant rs149601594dbSNPEnsembl.1
Natural variantiVAR_042649792L → V.1 PublicationCorresponds to variant rs17744093dbSNPEnsembl.1
Natural variantiVAR_063396867P → L.2 PublicationsCorresponds to variant rs182248363dbSNPEnsembl.1
Natural variantiVAR_065280954P → S.1 PublicationCorresponds to variant rs758883789dbSNPEnsembl.1
Natural variantiVAR_065281955R → Q.1 PublicationCorresponds to variant rs184249075dbSNPEnsembl.1
Natural variantiVAR_065282959A → T.1 PublicationCorresponds to variant rs192350796dbSNPEnsembl.1
Natural variantiVAR_0652831020Q → R.1 PublicationCorresponds to variant rs200367963dbSNPEnsembl.1
Natural variantiVAR_0652841089Missing .1 Publication1
Natural variantiVAR_0652851160A → T.1 PublicationCorresponds to variant rs766723736dbSNPEnsembl.1
Natural variantiVAR_0652861177R → Q.1 PublicationCorresponds to variant rs375826049dbSNPEnsembl.1
Natural variantiVAR_0652871225S → SS.1 Publication1
Natural variantiVAR_0652881247G → S.1 PublicationCorresponds to variant rs187333111dbSNPEnsembl.1
Natural variantiVAR_0426501254P → L.1 PublicationCorresponds to variant rs1975713dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC105398 Genomic DNA. No translation available.
AK092250 mRNA. No translation available.
CCDSiCCDS42669.1.
RefSeqiNP_001025054.1. NM_001029883.2.
UniGeneiHs.354243.

Genome annotation databases

EnsembliENST00000331664; ENSP00000332809; ENSG00000179270.
GeneIDi388939.
KEGGihsa:388939.
UCSCiuc002rmt.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC105398 Genomic DNA. No translation available.
AK092250 mRNA. No translation available.
CCDSiCCDS42669.1.
RefSeqiNP_001025054.1. NM_001029883.2.
UniGeneiHs.354243.

3D structure databases

ProteinModelPortaliA6NGG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000332809.

PTM databases

iPTMnetiA6NGG8.
PhosphoSitePlusiA6NGG8.

Polymorphism and mutation databases

BioMutaiC2orf71.

Proteomic databases

PaxDbiA6NGG8.
PRIDEiA6NGG8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331664; ENSP00000332809; ENSG00000179270.
GeneIDi388939.
KEGGihsa:388939.
UCSCiuc002rmt.3. human.

Organism-specific databases

CTDi388939.
DisGeNETi388939.
GeneCardsiC2orf71.
GeneReviewsiC2orf71.
H-InvDBHIX0001940.
HGNCiHGNC:34383. C2orf71.
HPAiHPA051819.
MalaCardsiC2orf71.
MIMi613425. gene.
613428. phenotype.
neXtProtiNX_A6NGG8.
OpenTargetsiENSG00000179270.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162379508.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIKW. Eukaryota.
ENOG410YIZU. LUCA.
GeneTreeiENSGT00390000002768.
HOGENOMiHOG000111330.
HOVERGENiHBG094872.
InParanoidiA6NGG8.
OMAiADNESVQ.
OrthoDBiEOG091G0106.
PhylomeDBiA6NGG8.
TreeFamiTF336604.

Miscellaneous databases

GenomeRNAii388939.
PROiA6NGG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179270.
CleanExiHS_C2orf71.
GenevisibleiA6NGG8. HS.

Family and domain databases

InterProiIPR029352. Retinal_C2orf71.
[Graphical view]
PfamiPF15449. Retinal. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCB071_HUMAN
AccessioniPrimary (citable) accession number: A6NGG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: November 30, 2016
This is version 76 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 2
    Human chromosome 2: 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.