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A6NGG8

- CB071_HUMAN

UniProt

A6NGG8 - CB071_HUMAN

Protein

Uncharacterized protein C2orf71

Gene

C2orf71

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 59 (01 Oct 2014)
      Sequence version 1 (24 Jul 2007)
      Previous versions | rss
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    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 11RemovedSequence Analysis
    Chaini2 – 12881287Uncharacterized protein C2orf71PRO_0000329078Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycineSequence Analysis
    Lipidationi3 – 31S-palmitoyl cysteineSequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1013 – 109583Pro-richAdd
    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

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    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

    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: October 1, 2014
    This is version 59 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