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Q9BSJ5

- CQ080_HUMAN

UniProt

Q9BSJ5 - CQ080_HUMAN

Protein

Uncharacterized protein C17orf80

Gene

C17orf80

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uncharacterized protein C17orf80
    Alternative name(s):
    Cell migration-inducing gene 3 protein
    Human lung cancer oncogene 8 protein
    Short name:
    HLC-8
    Gene namesi
    ORF Names:HLC8, MIG3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:29601. C17orf80.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485404.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 609609Uncharacterized protein C17orf80PRO_0000284612Add
    BLAST

    Proteomic databases

    MaxQBiQ9BSJ5.
    PaxDbiQ9BSJ5.
    PRIDEiQ9BSJ5.

    PTM databases

    PhosphoSiteiQ9BSJ5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BSJ5.
    BgeeiQ9BSJ5.
    CleanExiHS_C17orf80.
    GenevestigatoriQ9BSJ5.

    Organism-specific databases

    HPAiHPA012896.

    Interactioni

    Protein-protein interaction databases

    BioGridi120358. 1 interaction.
    IntActiQ9BSJ5. 1 interaction.
    STRINGi9606.ENSP00000351937.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BSJ5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 552552ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini574 – 60936CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei553 – 57321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG38808.
    HOVERGENiHBG057035.
    InParanoidiQ9BSJ5.
    OMAiTMLFTGY.
    OrthoDBiEOG7D2FDW.
    PhylomeDBiQ9BSJ5.
    TreeFamiTF324369.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BSJ5-1) [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

    MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP    50
    RAKKMKGPIK DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL 100
    ERAATTKADK DIKNPIQPSF KMLKNTKPMT TFQEETKAQF YASEKTSPKR 150
    ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP SLSNQDRKYS STLPNDVQTT 200
    SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK RVRTLLSNER 250
    DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL 300
    TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER 350
    PHLSLFIPRE TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV 400
    KALMESPEGQ LSLEPKSDSQ FQASHTGCQS PLCSAQRHTP QSPFTNHAAA 450
    AGRKTLRSCM GLEWFPELYP GYLGLGVLPG KPQCWNAMTQ KPQLISPQGE 500
    RLSQVSLLER SSTHIRSLEP PAGLTTSNFS LMRLLGAVQK GWIRCNTTIR 550
    KSGFGGITML FTGYFVLCCS WSFRRLKKLC RPLPWKSTVP PCIGVAKTTG 600
    DCRSKTCLD 609
    Length:609
    Mass (Da):67,315
    Last modified:January 11, 2011 - v2
    Checksum:i2579A2A739C10A43
    GO
    Isoform 2 (identifier: Q9BSJ5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         505-540: Missing.

    Show »
    Length:573
    Mass (Da):63,423
    Checksum:i3E1F7C5F2CC73F1E
    GO
    Isoform 3 (identifier: Q9BSJ5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         578-583: KLCRPL → LQRWRK
         584-609: Missing.

    Show »
    Length:583
    Mass (Da):64,726
    Checksum:i104961298AAB38DE
    GO

    Sequence cautioni

    The sequence BAA91344.1 differs from that shown. Reason: Frameshift at position 121.
    The sequence AAP72185.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB15680.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331P → S in CAB66674. (PubMed:11230166)Curated
    Sequence conflicti484 – 4841C → R in BAB15680. (PubMed:16625196)Curated
    Sequence conflicti536 – 5361G → R in BAA91344. (PubMed:16625196)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti226 – 2261G → S.
    Corresponds to variant rs9902726 [ dbSNP | Ensembl ].
    VAR_031779
    Natural varianti322 – 3221K → Q.
    Corresponds to variant rs34784472 [ dbSNP | Ensembl ].
    VAR_031780
    Natural varianti356 – 3561F → L.1 Publication
    Corresponds to variant rs745143 [ dbSNP | Ensembl ].
    VAR_031781
    Natural varianti395 – 3951H → N.5 Publications
    Corresponds to variant rs904384 [ dbSNP | Ensembl ].
    VAR_031782
    Natural varianti396 – 3961C → R.1 Publication
    Corresponds to variant rs904383 [ dbSNP | Ensembl ].
    VAR_031783
    Natural varianti420 – 4201Q → H.2 Publications
    Corresponds to variant rs745142 [ dbSNP | Ensembl ].
    VAR_031784
    Natural varianti522 – 5221A → T.2 Publications
    Corresponds to variant rs1566286 [ dbSNP | Ensembl ].
    VAR_031785

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei505 – 54036Missing in isoform 2. 3 PublicationsVSP_024572Add
    BLAST
    Alternative sequencei578 – 5836KLCRPL → LQRWRK in isoform 3. 1 PublicationVSP_024573
    Alternative sequencei584 – 60926Missing in isoform 3. 1 PublicationVSP_024574Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY163812 mRNA. Translation: AAO25513.1.
    AY239293 mRNA. Translation: AAP72185.1. Different initiation.
    AL136740 mRNA. Translation: CAB66674.1.
    AK000728 mRNA. Translation: BAA91344.1. Frameshift.
    AK027166 mRNA. Translation: BAB15680.1. Different initiation.
    AK292838 mRNA. Translation: BAF85527.1.
    AC087301 Genomic DNA. No translation available.
    AC097641 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89118.1.
    BC005005 mRNA. Translation: AAH05005.1.
    CCDSiCCDS11694.1. [Q9BSJ5-1]
    CCDS42377.1. [Q9BSJ5-2]
    CCDS45767.1. [Q9BSJ5-3]
    RefSeqiNP_001094091.1. NM_001100621.2.
    NP_001094092.1. NM_001100622.2.
    NP_001275699.1. NM_001288770.1.
    NP_001275700.1. NM_001288771.1.
    NP_060411.2. NM_017941.5.
    XP_005257544.1. XM_005257487.2. [Q9BSJ5-1]
    UniGeneiHs.12929.

    Genome annotation databases

    EnsembliENST00000268942; ENSP00000268942; ENSG00000141219. [Q9BSJ5-2]
    ENST00000359042; ENSP00000351937; ENSG00000141219. [Q9BSJ5-1]
    ENST00000426147; ENSP00000396970; ENSG00000141219. [Q9BSJ5-3]
    ENST00000535032; ENSP00000440551; ENSG00000141219. [Q9BSJ5-1]
    ENST00000577615; ENSP00000464132; ENSG00000141219. [Q9BSJ5-2]
    GeneIDi55028.
    KEGGihsa:55028.
    UCSCiuc002jjk.1. human. [Q9BSJ5-3]
    uc002jjl.4. human. [Q9BSJ5-2]
    uc002jjm.4. human. [Q9BSJ5-1]

    Polymorphism databases

    DMDMi317373351.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY163812 mRNA. Translation: AAO25513.1 .
    AY239293 mRNA. Translation: AAP72185.1 . Different initiation.
    AL136740 mRNA. Translation: CAB66674.1 .
    AK000728 mRNA. Translation: BAA91344.1 . Frameshift.
    AK027166 mRNA. Translation: BAB15680.1 . Different initiation.
    AK292838 mRNA. Translation: BAF85527.1 .
    AC087301 Genomic DNA. No translation available.
    AC097641 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89118.1 .
    BC005005 mRNA. Translation: AAH05005.1 .
    CCDSi CCDS11694.1. [Q9BSJ5-1 ]
    CCDS42377.1. [Q9BSJ5-2 ]
    CCDS45767.1. [Q9BSJ5-3 ]
    RefSeqi NP_001094091.1. NM_001100621.2.
    NP_001094092.1. NM_001100622.2.
    NP_001275699.1. NM_001288770.1.
    NP_001275700.1. NM_001288771.1.
    NP_060411.2. NM_017941.5.
    XP_005257544.1. XM_005257487.2. [Q9BSJ5-1 ]
    UniGenei Hs.12929.

    3D structure databases

    ProteinModelPortali Q9BSJ5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120358. 1 interaction.
    IntActi Q9BSJ5. 1 interaction.
    STRINGi 9606.ENSP00000351937.

    PTM databases

    PhosphoSitei Q9BSJ5.

    Polymorphism databases

    DMDMi 317373351.

    Proteomic databases

    MaxQBi Q9BSJ5.
    PaxDbi Q9BSJ5.
    PRIDEi Q9BSJ5.

    Protocols and materials databases

    DNASUi 55028.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000268942 ; ENSP00000268942 ; ENSG00000141219 . [Q9BSJ5-2 ]
    ENST00000359042 ; ENSP00000351937 ; ENSG00000141219 . [Q9BSJ5-1 ]
    ENST00000426147 ; ENSP00000396970 ; ENSG00000141219 . [Q9BSJ5-3 ]
    ENST00000535032 ; ENSP00000440551 ; ENSG00000141219 . [Q9BSJ5-1 ]
    ENST00000577615 ; ENSP00000464132 ; ENSG00000141219 . [Q9BSJ5-2 ]
    GeneIDi 55028.
    KEGGi hsa:55028.
    UCSCi uc002jjk.1. human. [Q9BSJ5-3 ]
    uc002jjl.4. human. [Q9BSJ5-2 ]
    uc002jjm.4. human. [Q9BSJ5-1 ]

    Organism-specific databases

    CTDi 55028.
    GeneCardsi GC17P071228.
    HGNCi HGNC:29601. C17orf80.
    HPAi HPA012896.
    neXtProti NX_Q9BSJ5.
    PharmGKBi PA143485404.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG38808.
    HOVERGENi HBG057035.
    InParanoidi Q9BSJ5.
    OMAi TMLFTGY.
    OrthoDBi EOG7D2FDW.
    PhylomeDBi Q9BSJ5.
    TreeFami TF324369.

    Miscellaneous databases

    ChiTaRSi C17orf80. human.
    GenomeRNAii 55028.
    NextBioi 58435.

    Gene expression databases

    ArrayExpressi Q9BSJ5.
    Bgeei Q9BSJ5.
    CleanExi HS_C17orf80.
    Genevestigatori Q9BSJ5.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Identification of a new human cancer-related gene (HLC-8)."
      Kim J.W.
      Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), VARIANTS LEU-356; ASN-395; ARG-396; HIS-420 AND THR-522.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASN-395.
      Tissue: Testis.
    3. "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] (ISOFORMS 2 AND 3), VARIANTS ASN-395; HIS-420 AND THR-522.
      Tissue: Lung and Trachea.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-395.
    6. "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] (ISOFORM 1), VARIANT ASN-395.
      Tissue: Kidney.

    Entry informationi

    Entry nameiCQ080_HUMAN
    AccessioniPrimary (citable) accession number: Q9BSJ5
    Secondary accession number(s): A8K9X3
    , Q5JB45, Q6YAU3, Q9H0L9, Q9H5E6, Q9NWN5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 17, 2007
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 84 of the entry and version 2 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 17
      Human chromosome 17: 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