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A6NGG8 (CB071_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein C2orf71
Gene names
Name:C2orf71
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1288 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play an important role in the development of normal vision. Ref.4

Subcellular location

Cell projectionciliumphotoreceptor outer segment Ref.4.

Tissue specificity

Specifically expressed in retina. Ref.3

Involvement in disease

Retinitis pigmentosa 54 (RP54) [MIM:613428]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4 Ref.5

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Cellular componentCell projection
Cilium
   Coding sequence diversityPolymorphism
   DiseaseCiliopathy
Disease mutation
Retinitis pigmentosa
   PTMLipoprotein
Myristate
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processresponse to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentphotoreceptor outer segment

Inferred from electronic annotation. Source: UniProtKB-SubCell

primary cilium

Inferred from direct assay Ref.4. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Potential
Chain2 – 12881287Uncharacterized protein C2orf71
PRO_0000329078

Regions

Compositional bias1013 – 109583Pro-rich

Amino acid modifications

Lipidation21N-myristoyl glycine Potential
Lipidation31S-palmitoyl cysteine Potential

Natural variations

Natural variant131S → C. Ref.5
Corresponds to variant rs10084168 [ dbSNP | Ensembl ].
VAR_042646
Natural variant2011I → F in RP54; induces proteasomal degradation. Ref.4
VAR_063395
Natural variant2271E → K. Ref.5
Corresponds to variant rs114057537 [ dbSNP | Ensembl ].
VAR_065267
Natural variant2471V → A. Ref.5
Corresponds to variant rs77828062 [ dbSNP | Ensembl ].
VAR_065268
Natural variant2521A → D. Ref.5
Corresponds to variant rs77003681 [ dbSNP | Ensembl ].
VAR_065269
Natural variant2581R → I. Ref.5
Corresponds to variant rs116156338 [ dbSNP | Ensembl ].
VAR_065270
Natural variant3121S → N. Ref.5
VAR_065271
Natural variant3201R → C. Ref.5
VAR_065272
Natural variant3721D → N in RP54. Ref.5
Corresponds to variant rs201284350 [ dbSNP | Ensembl ].
VAR_065273
Natural variant3781E → K. Ref.5
Corresponds to variant rs201900716 [ dbSNP | Ensembl ].
VAR_065274
Natural variant4211K → R. Ref.5
Corresponds to variant rs17007544 [ dbSNP | Ensembl ].
VAR_042647
Natural variant5801T → M. Ref.5
Corresponds to variant rs10166913 [ dbSNP | Ensembl ].
VAR_042648
Natural variant6121L → P in RP54. Ref.5
Corresponds to variant rs200758183 [ dbSNP | Ensembl ].
VAR_065275
Natural variant6151V → D in RP54. Ref.5
Corresponds to variant rs140776870 [ dbSNP | Ensembl ].
VAR_065276
Natural variant6281A → T. Ref.5
VAR_065277
Natural variant6481A → P. Ref.5
VAR_065278
Natural variant6881C → Y. Ref.5
Corresponds to variant rs149601594 [ dbSNP | Ensembl ].
VAR_065279
Natural variant7921L → V. Ref.5
Corresponds to variant rs17744093 [ dbSNP | Ensembl ].
VAR_042649
Natural variant8671P → L. Ref.3 Ref.5
Corresponds to variant rs182248363 [ dbSNP | Ensembl ].
VAR_063396
Natural variant9541P → S. Ref.5
VAR_065280
Natural variant9551R → Q. Ref.5
Corresponds to variant rs184249075 [ dbSNP | Ensembl ].
VAR_065281
Natural variant9591A → T. Ref.5
Corresponds to variant rs192350796 [ dbSNP | Ensembl ].
VAR_065282
Natural variant10201Q → R. Ref.5
VAR_065283
Natural variant10891Missing. Ref.5
VAR_065284
Natural variant11601A → T. Ref.5
VAR_065285
Natural variant11771R → Q. Ref.5
VAR_065286
Natural variant12251S → SS. Ref.5
VAR_065287
Natural variant12471G → S. Ref.5
Corresponds to variant rs187333111 [ dbSNP | Ensembl ].
VAR_065288
Natural variant12541P → L. Ref.5
Corresponds to variant rs1975713 [ dbSNP | Ensembl ].
VAR_042650

Sequences

Sequence LengthMass (Da)Tools
A6NGG8 [UniParc].

Last modified July 24, 2007. Version 1.
Checksum: 97AC10B7AB0ED158

FASTA1,288139,655
        10         20         30         40         50         60 
MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC YDAGEGLAEE 

        70         80         90        100        110        120 
QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS SQLNKSQSHM AKDIPFKTQG 

       130        140        150        160        170        180 
SHGSQGADFS GDESEESSTQ DTSKWKRTAK CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL 

       190        200        210        220        230        240 
VKAHQQAYTY LHSSLSKYEA ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG 

       250        260        270        280        290        300 
EVLLQEVRED LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL 

       310        320        330        340        350        360 
HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS GIGADNESVQ 

       370        380        390        400        410        420 
SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS PFCLGSGRPQ DCLLSGAPMA 

       430        440        450        460        470        480 
KVQPRAQDEA RSPCLSSTSP ENITSPPLKL GTSTPCDSFG IGVSVEPHLS KTSRPMDASS 

       490        500        510        520        530        540 
LSDSEDSSPE EEEEDKMSSM SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM 

       550        560        570        580        590        600 
ILKMKESISE RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL 

       610        620        630        640        650        660 
QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW PNGTCRVSPS 

       670        680        690        700        710        720 
NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG KLPNAIPSGE VSEAAKATDW 

       730        740        750        760        770        780 
NVRGCPTRTS VKKLIETFSP TESLRMLGDS KDAGASPCLR NCIMPPRFPK YTGLAPLYPK 

       790        800        810        820        830        840 
PQISPASGRE SLKMGIGWKP LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD 

       850        860        870        880        890        900 
KSFASLESPE SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL 

       910        920        930        940        950        960 
TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL YRQPRKAIAW 

       970        980        990       1000       1010       1020 
HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH WVPQADKRRR SLPSSYRPAQ 

      1030       1040       1050       1060       1070       1080 
PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP PHQPKLPNPP PESAPAQCKV PSPPTQHPEA 

      1090       1100       1110       1120       1130       1140 
SPPFSIPSPS PPMSPSQEHK ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA 

      1150       1160       1170       1180       1190       1200 
HPLTPPSLPP EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG 

      1210       1220       1230       1240       1250       1260 
GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR ASPPEFCVLG 

      1270       1280 
HGLQPEPRTG HIQDKSQPEA QPQQEEVS 

« Hide

References

« Hide 'large scale' references
[1]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1156-1288.
[3]"Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa."
Collin R.W.J., Safieh C., Littink K.W., Shalev S.A., Garzozi H.J., Rizel L., Abbasi A.H., Cremers F.P.M., den Hollander A.I., Klevering B.J., Ben-Yosef T.
Am. J. Hum. Genet. 86:783-788(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP54, VARIANT LEU-867, TISSUE SPECIFICITY.
[4]"Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71."
Nishimura D.Y., Baye L.M., Perveen R., Searby C.C., Avila-Fernandez A., Pereiro I., Ayuso C., Valverde D., Bishop P.N., Manson F.D.C., Urquhart J., Stone E.M., Slusarski D.C., Black G.C.M., Sheffield V.C.
Am. J. Hum. Genet. 86:686-695(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT RP54 PHE-201, INVOLVEMENT IN RP54, SUBCELLULAR LOCATION.
[5]"Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort."
Audo I., Lancelot M.E., Mohand-Said S., Antonio A., Germain A., Sahel J.A., Bhattacharya S.S., Zeitz C.
Hum. Mutat. 32:E2091-E2103(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RP54 ASN-372; PRO-612 AND ASP-615, VARIANTS CYS-13; LYS-227; ALA-247; ASP-252; ILE-258; ASN-312; CYS-320; LYS-378; ARG-421; MET-580; THR-628; PRO-648; TYR-688; VAL-792; LEU-867; SER-954; GLN-955; THR-959; ARG-1020; PRO-1089 DEL; THR-1160; GLN-1177; SER-1225 INS; SER-1247 AND LEU-1254.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC105398 Genomic DNA. No translation available.
AK092250 mRNA. No translation available.
CCDSCCDS42669.1.
RefSeqNP_001025054.1. NM_001029883.2.
UniGeneHs.354243.

3D structure databases

ProteinModelPortalA6NGG8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000332809.

PTM databases

PhosphoSiteA6NGG8.

Proteomic databases

PaxDbA6NGG8.
PRIDEA6NGG8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331664; ENSP00000332809; ENSG00000179270.
GeneID388939.
KEGGhsa:388939.
UCSCuc002rmt.2. human.

Organism-specific databases

CTD388939.
GeneCardsGC02M029284.
GeneReviewsC2orf71.
H-InvDBHIX0001940.
HGNCHGNC:34383. C2orf71.
HPAHPA051819.
MIM613425. gene.
613428. phenotype.
neXtProtNX_A6NGG8.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA162379508.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84935.
HOGENOMHOG000111330.
HOVERGENHBG094872.
InParanoidA6NGG8.
OMAIMPPRFP.
OrthoDBEOG7HXCQ1.
PhylomeDBA6NGG8.
TreeFamTF336604.

Gene expression databases

BgeeA6NGG8.
CleanExHS_C2orf71.
GenevestigatorA6NGG8.

Family and domain databases

InterProIPR029352. Retinal_C2orf71.
[Graphical view]
PfamPF15449. Retinal. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi388939.
NextBio102454.
SOURCESearch...

Entry information

Entry nameCB071_HUMAN
AccessionPrimary (citable) accession number: A6NGG8
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 24, 2007
Last modified: July 9, 2014
This is version 58 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM