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Q8N5S3

- CB073_HUMAN

UniProt

Q8N5S3 - CB073_HUMAN

Protein

Uncharacterized protein C2orf73

Gene

C2orf73

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 60 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uncharacterized protein C2orf73
    Gene namesi
    Name:C2orf73
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:26861. C2orf73.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162379532.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 287287Uncharacterized protein C2orf73PRO_0000332213Add
    BLAST

    Proteomic databases

    PaxDbiQ8N5S3.
    PRIDEiQ8N5S3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N5S3.
    BgeeiQ8N5S3.
    CleanExiHS_C2orf73.
    GenevestigatoriQ8N5S3.

    Organism-specific databases

    HPAiHPA055221.

    Interactioni

    Protein-protein interaction databases

    BioGridi126212. 3 interactions.
    IntActiQ8N5S3. 2 interactions.
    STRINGi9606.ENSP00000381631.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N5S3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG47758.
    HOGENOMiHOG000111332.
    HOVERGENiHBG107582.
    InParanoidiQ8N5S3.
    OMAiIHQYDAR.
    PhylomeDBiQ8N5S3.
    TreeFamiTF337686.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5S3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEEKEDKHQQ HKIEDAAITY VSENEEIKHE EKPGKSIHHS KSHVGRGRIY    50
    YAKFINTNAR TYNEPFPYID PKKGPEIQGD WWSHGKALEP VFLPPYDSKS 100
    TQRSDFQKPS CPLVLPVKHS KMQKPSCGIV PLASPGTSAE LQNNFIEYIS 150
    FIHQYDARKT PNEPLQGKRH GAFVQREIKP GSRPTVPKGA EVLLNTPGSR 200
    SSEQSKKTEK GNSAESRMIS PGLCQQNSQE LLEPKTHLSE TDVRQAAKAC 250
    PSTPESREKT SGATQTTVGD ALFTRHKPLN PPIKKSE 287
    Length:287
    Mass (Da):32,142
    Last modified:January 11, 2011 - v3
    Checksum:i9AFD7EBA65BCE7C0
    GO
    Isoform 2 (identifier: Q8N5S3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-121: Missing.

    Show »
    Length:166
    Mass (Da):18,091
    Checksum:i3E753058BB0C4526
    GO

    Sequence cautioni

    The sequence AAH31669.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti29 – 291H → N.
    Corresponds to variant rs55714450 [ dbSNP | Ensembl ].
    VAR_061571
    Natural varianti254 – 2541P → L.3 Publications
    Corresponds to variant rs2280718 [ dbSNP | Ensembl ].
    VAR_042973
    Natural varianti275 – 2751R → T.2 Publications
    Corresponds to variant rs13184 [ dbSNP | Ensembl ].
    VAR_042974

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 121121Missing in isoform 2. 2 PublicationsVSP_033353Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK097617 mRNA. Translation: BAC05122.1.
    AC108929 Genomic DNA. No translation available.
    CH471053 Genomic DNA. Translation: EAX00150.1.
    BC031669 mRNA. Translation: AAH31669.1. Different initiation.
    BC126244 mRNA. Translation: AAI26245.1.
    BC126246 mRNA. Translation: AAI26247.1.
    CCDSiCCDS46285.1. [Q8N5S3-1]
    RefSeqiNP_001093866.1. NM_001100396.1. [Q8N5S3-1]
    XP_005264190.1. XM_005264133.1. [Q8N5S3-2]
    XP_005264191.1. XM_005264134.1. [Q8N5S3-2]
    UniGeneiHs.732626.

    Genome annotation databases

    EnsembliENST00000398634; ENSP00000381631; ENSG00000177994. [Q8N5S3-1]
    GeneIDi129852.
    KEGGihsa:129852.
    UCSCiuc002rxs.1. human. [Q8N5S3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK097617 mRNA. Translation: BAC05122.1 .
    AC108929 Genomic DNA. No translation available.
    CH471053 Genomic DNA. Translation: EAX00150.1 .
    BC031669 mRNA. Translation: AAH31669.1 . Different initiation.
    BC126244 mRNA. Translation: AAI26245.1 .
    BC126246 mRNA. Translation: AAI26247.1 .
    CCDSi CCDS46285.1. [Q8N5S3-1 ]
    RefSeqi NP_001093866.1. NM_001100396.1. [Q8N5S3-1 ]
    XP_005264190.1. XM_005264133.1. [Q8N5S3-2 ]
    XP_005264191.1. XM_005264134.1. [Q8N5S3-2 ]
    UniGenei Hs.732626.

    3D structure databases

    ProteinModelPortali Q8N5S3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126212. 3 interactions.
    IntActi Q8N5S3. 2 interactions.
    STRINGi 9606.ENSP00000381631.

    Proteomic databases

    PaxDbi Q8N5S3.
    PRIDEi Q8N5S3.

    Protocols and materials databases

    DNASUi 129852.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000398634 ; ENSP00000381631 ; ENSG00000177994 . [Q8N5S3-1 ]
    GeneIDi 129852.
    KEGGi hsa:129852.
    UCSCi uc002rxs.1. human. [Q8N5S3-1 ]

    Organism-specific databases

    CTDi 129852.
    GeneCardsi GC02P054557.
    HGNCi HGNC:26861. C2orf73.
    HPAi HPA055221.
    neXtProti NX_Q8N5S3.
    PharmGKBi PA162379532.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47758.
    HOGENOMi HOG000111332.
    HOVERGENi HBG107582.
    InParanoidi Q8N5S3.
    OMAi IHQYDAR.
    PhylomeDBi Q8N5S3.
    TreeFami TF337686.

    Miscellaneous databases

    GenomeRNAii 129852.
    NextBioi 82655.

    Gene expression databases

    ArrayExpressi Q8N5S3.
    Bgeei Q8N5S3.
    CleanExi HS_C2orf73.
    Genevestigatori Q8N5S3.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 2), VARIANTS LEU-254 AND THR-275.
      Tissue: Testis.
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS LEU-254 AND THR-275.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-254.
      Tissue: Brain.

    Entry informationi

    Entry nameiCB073_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5S3
    Secondary accession number(s): A0AV79, A0AV81, Q8N7V4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 29, 2008
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 60 of the entry and version 3 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

    External Data

    Dasty 3