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A6NGG8

- CB071_HUMAN

UniProt

A6NGG8 - CB071_HUMAN

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Protein
Uncharacterized protein C2orf71
Gene
C2orf71
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. response to stimulus Source: UniProtKB-KW
  2. visual perception Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:34383. C2orf71.

Subcellular locationi

Cell projectionciliumphotoreceptor outer segment 1 Publication

GO - Cellular componenti

  1. photoreceptor outer segment Source: UniProtKB-SubCell
  2. primary cilium Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti201 – 2011I → F in RP54; induces proteasomal degradation. 1 Publication
VAR_063395
Natural varianti372 – 3721D → N in RP54. 1 Publication
Corresponds to variant rs201284350 [ dbSNP | Ensembl ].
VAR_065273
Natural varianti612 – 6121L → P in RP54. 1 Publication
Corresponds to variant rs200758183 [ dbSNP | Ensembl ].
VAR_065275
Natural varianti615 – 6151V → D in RP54. 1 Publication
Corresponds to variant rs140776870 [ dbSNP | Ensembl ].
VAR_065276

Keywords - Diseasei

Ciliopathy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi613428. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162379508.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed Reviewed prediction
Chaini2 – 12881287Uncharacterized protein C2orf71
PRO_0000329078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine Reviewed prediction
Lipidationi3 – 31S-palmitoyl cysteine Reviewed prediction

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

PaxDbiA6NGG8.
PRIDEiA6NGG8.

PTM databases

PhosphoSiteiA6NGG8.

Expressioni

Tissue specificityi

Specifically expressed in retina.1 Publication

Gene expression databases

BgeeiA6NGG8.
CleanExiHS_C2orf71.
GenevestigatoriA6NGG8.

Organism-specific databases

HPAiHPA051819.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000332809.

Structurei

3D structure databases

ProteinModelPortaliA6NGG8.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1013 – 109583Pro-rich
Add
BLAST

Phylogenomic databases

eggNOGiNOG84935.
HOGENOMiHOG000111330.
HOVERGENiHBG094872.
InParanoidiA6NGG8.
OMAiIMPPRFP.
OrthoDBiEOG7HXCQ1.
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

MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC     50
YDAGEGLAEE QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS 100
SQLNKSQSHM AKDIPFKTQG SHGSQGADFS GDESEESSTQ DTSKWKRTAK 150
CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL VKAHQQAYTY LHSSLSKYEA 200
ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG EVLLQEVRED 250
LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL 300
HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS 350
GIGADNESVQ SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS 400
PFCLGSGRPQ DCLLSGAPMA KVQPRAQDEA RSPCLSSTSP ENITSPPLKL 450
GTSTPCDSFG IGVSVEPHLS KTSRPMDASS LSDSEDSSPE EEEEDKMSSM 500
SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM ILKMKESISE 550
RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL 600
QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW 650
PNGTCRVSPS NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG 700
KLPNAIPSGE VSEAAKATDW NVRGCPTRTS VKKLIETFSP TESLRMLGDS 750
KDAGASPCLR NCIMPPRFPK YTGLAPLYPK PQISPASGRE SLKMGIGWKP 800
LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD KSFASLESPE 850
SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL 900
TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL 950
YRQPRKAIAW HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH 1000
WVPQADKRRR SLPSSYRPAQ PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP 1050
PHQPKLPNPP PESAPAQCKV PSPPTQHPEA SPPFSIPSPS PPMSPSQEHK 1100
ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA HPLTPPSLPP 1150
EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG 1200
GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR 1250
ASPPEFCVLG HGLQPEPRTG HIQDKSQPEA QPQQEEVS 1288
Length:1,288
Mass (Da):139,655
Last modified:July 24, 2007 - v1
Checksum:i97AC10B7AB0ED158
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131S → C.1 Publication
Corresponds to variant rs10084168 [ dbSNP | Ensembl ].
VAR_042646
Natural varianti201 – 2011I → F in RP54; induces proteasomal degradation. 1 Publication
VAR_063395
Natural varianti227 – 2271E → K.1 Publication
Corresponds to variant rs114057537 [ dbSNP | Ensembl ].
VAR_065267
Natural varianti247 – 2471V → A.1 Publication
Corresponds to variant rs77828062 [ dbSNP | Ensembl ].
VAR_065268
Natural varianti252 – 2521A → D.1 Publication
Corresponds to variant rs77003681 [ dbSNP | Ensembl ].
VAR_065269
Natural varianti258 – 2581R → I.1 Publication
Corresponds to variant rs116156338 [ dbSNP | Ensembl ].
VAR_065270
Natural varianti312 – 3121S → N.1 Publication
VAR_065271
Natural varianti320 – 3201R → C.1 Publication
VAR_065272
Natural varianti372 – 3721D → N in RP54. 1 Publication
Corresponds to variant rs201284350 [ dbSNP | Ensembl ].
VAR_065273
Natural varianti378 – 3781E → K.1 Publication
Corresponds to variant rs201900716 [ dbSNP | Ensembl ].
VAR_065274
Natural varianti421 – 4211K → R.1 Publication
Corresponds to variant rs17007544 [ dbSNP | Ensembl ].
VAR_042647
Natural varianti580 – 5801T → M.1 Publication
Corresponds to variant rs10166913 [ dbSNP | Ensembl ].
VAR_042648
Natural varianti612 – 6121L → P in RP54. 1 Publication
Corresponds to variant rs200758183 [ dbSNP | Ensembl ].
VAR_065275
Natural varianti615 – 6151V → D in RP54. 1 Publication
Corresponds to variant rs140776870 [ dbSNP | Ensembl ].
VAR_065276
Natural varianti628 – 6281A → T.1 Publication
VAR_065277
Natural varianti648 – 6481A → P.1 Publication
VAR_065278
Natural varianti688 – 6881C → Y.1 Publication
Corresponds to variant rs149601594 [ dbSNP | Ensembl ].
VAR_065279
Natural varianti792 – 7921L → V.1 Publication
Corresponds to variant rs17744093 [ dbSNP | Ensembl ].
VAR_042649
Natural varianti867 – 8671P → L.2 Publications
Corresponds to variant rs182248363 [ dbSNP | Ensembl ].
VAR_063396
Natural varianti954 – 9541P → S.1 Publication
VAR_065280
Natural varianti955 – 9551R → Q.1 Publication
Corresponds to variant rs184249075 [ dbSNP | Ensembl ].
VAR_065281
Natural varianti959 – 9591A → T.1 Publication
Corresponds to variant rs192350796 [ dbSNP | Ensembl ].
VAR_065282
Natural varianti1020 – 10201Q → R.1 Publication
VAR_065283
Natural varianti1089 – 10891Missing.1 Publication
VAR_065284
Natural varianti1160 – 11601A → T.1 Publication
VAR_065285
Natural varianti1177 – 11771R → Q.1 Publication
VAR_065286
Natural varianti1225 – 12251S → SS.1 Publication
VAR_065287
Natural varianti1247 – 12471G → S.1 Publication
Corresponds to variant rs187333111 [ dbSNP | Ensembl ].
VAR_065288
Natural varianti1254 – 12541P → L.1 Publication
Corresponds to variant rs1975713 [ dbSNP | Ensembl ].
VAR_042650

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC105398 Genomic DNA. No translation available.
AK092250 mRNA. No translation available.
CCDSi CCDS42669.1.
RefSeqi NP_001025054.1. NM_001029883.2.
UniGenei Hs.354243.

3D structure databases

ProteinModelPortali A6NGG8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000332809.

PTM databases

PhosphoSitei A6NGG8.

Proteomic databases

PaxDbi A6NGG8.
PRIDEi A6NGG8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331664 ; ENSP00000332809 ; ENSG00000179270 .
GeneIDi 388939.
KEGGi hsa:388939.
UCSCi uc002rmt.2. human.

Organism-specific databases

CTDi 388939.
GeneCardsi GC02M029284.
GeneReviewsi C2orf71.
H-InvDB HIX0001940.
HGNCi HGNC:34383. C2orf71.
HPAi HPA051819.
MIMi 613425. gene.
613428. phenotype.
neXtProti NX_A6NGG8.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA162379508.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84935.
HOGENOMi HOG000111330.
HOVERGENi HBG094872.
InParanoidi A6NGG8.
OMAi IMPPRFP.
OrthoDBi EOG7HXCQ1.
PhylomeDBi A6NGG8.
TreeFami TF336604.

Miscellaneous databases

GenomeRNAii 388939.
NextBioi 102454.
SOURCEi Search...

Gene expression databases

Bgeei A6NGG8.
CleanExi HS_C2orf71.
Genevestigatori A6NGG8.

Family and domain databases

InterProi IPR029352. Retinal_C2orf71.
[Graphical view ]
Pfami PF15449. Retinal. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: INVOLVEMENT IN RP54, VARIANT LEU-867, TISSUE SPECIFICITY.
  4. 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.

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: July 9, 2014
This is version 58 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

External Data

Dasty 3

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