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Q96SY0

- VWA9_HUMAN

UniProt

Q96SY0 - VWA9_HUMAN

Protein

von Willebrand factor A domain-containing protein 9

Gene

VWA9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (24 Jul 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    von Willebrand factor A domain-containing protein 9
    Gene namesi
    Name:VWA9
    Synonyms:C15orf44
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:25372. VWA9.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672279.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 518518von Willebrand factor A domain-containing protein 9PRO_0000296266Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei418 – 4181N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96SY0.
    PaxDbiQ96SY0.
    PRIDEiQ96SY0.

    PTM databases

    PhosphoSiteiQ96SY0.

    Expressioni

    Tissue specificityi

    Strongly expressed in numerous cancer cells compared with their non-cancerous counterparts (lung, prostate, colon, stomach and skin).1 Publication

    Gene expression databases

    ArrayExpressiQ96SY0.
    BgeeiQ96SY0.
    CleanExiHS_C15orf44.
    GenevestigatoriQ96SY0.

    Organism-specific databases

    HPAiHPA040255.
    HPA040651.

    Interactioni

    Protein-protein interaction databases

    IntActiQ96SY0. 1 interaction.
    MINTiMINT-4716759.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96SY0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 204203VWFAAdd
    BLAST

    Sequence similaritiesi

    Belongs to the VWA9 family.Curated
    Contains 1 VWFA domain.Curated

    Phylogenomic databases

    eggNOGiNOG86191.
    HOGENOMiHOG000006970.
    HOVERGENiHBG103632.
    InParanoidiQ96SY0.
    PhylomeDBiQ96SY0.
    TreeFamiTF323245.

    Family and domain databases

    InterProiIPR002035. VWF_A.
    [Graphical view]
    SMARTiSM00327. VWA. 1 hit.
    [Graphical view]
    SUPFAMiSSF53300. SSF53300. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96SY0-1) [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

    MPTVVVMDVS LSMTRPVSIE GSEEYQRKHL AAHGLTMLFE HMATNYKLEF    50
    TALVVFSSLW ELMVPFTRDY NTLQEALSNM DDYDKTCLES ALVGVCNIVQ 100
    QEWGGAIPCQ VVLVTDGCLG IGRGSLRHSL ATQNQRSESN RFPLPFPFPS 150
    KLYIMCMANL EELQSTDSLE CLERLIDLNN GEGQIFTIDG PLCLKNVQSM 200
    FGKLIDLAYT PFHAVLKCGH LTADVQVFPR PEPFVVDEEI DPIPKVINTD 250
    LEIVGFIDIA DISSPPVLSR HLVLPIALNK EGDEVGTGIT DDNEDENSAN 300
    QIAGKIPNFC VLLHGSLKVE GMVAIVQLGP EWHGMLYSQA DSKKKSNLMM 350
    SLFEPGPEPL PWLGKMAQLG PISDAKENPY GEDDNKSPFP LQPKNKRSYA 400
    QNVTVWIKPS GLQTDVQKIL RNARKLPEKT QTFYKELNRL RKAALAFGFL 450
    DLLKGVADML ERECTLLPET AHPDAAFQLT HAAQQLKLAS TGTSEYAAYD 500
    QNITPLHTDF SGSSTERI 518
    Length:518
    Mass (Da):57,471
    Last modified:July 24, 2007 - v2
    Checksum:i5B05ED69BA6451BD
    GO
    Isoform 2 (identifier: Q96SY0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         75-86: EALSNMDDYDKT → VQNVVSYCMYRA
         87-518: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:86
    Mass (Da):9,955
    Checksum:i4A786D266330D86F
    GO
    Isoform 4 (identifier: Q96SY0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-79: Missing.

    Show »
    Length:439
    Mass (Da):48,434
    Checksum:i595E0A2240664F2C
    GO
    Isoform 3 (identifier: Q96SY0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         4-74: VVVMDVSLSM...PFTRDYNTLQ → ESLCRRTVSGDGHG

    Note: No experimental confirmation available.

    Show »
    Length:461
    Mass (Da):50,734
    Checksum:i0830F22A6AA379FB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 71M → I in AAH37823. (PubMed:15489334)Curated
    Sequence conflicti89 – 891E → G in CAB66597. (PubMed:11230166)Curated
    Sequence conflicti177 – 1771D → Y in BAB55140. (PubMed:14702039)Curated
    Sequence conflicti206 – 2061D → G in CAB66597. (PubMed:11230166)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7979Missing in isoform 4. 1 PublicationVSP_044250Add
    BLAST
    Alternative sequencei4 – 7471VVVMD…YNTLQ → ESLCRRTVSGDGHG in isoform 3. 1 PublicationVSP_043277Add
    BLAST
    Alternative sequencei75 – 8612EALSN…DYDKT → VQNVVSYCMYRA in isoform 2. 1 PublicationVSP_027180Add
    BLAST
    Alternative sequencei87 – 518432Missing in isoform 2. 1 PublicationVSP_027181Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136662 mRNA. Translation: CAB66597.1.
    AK301033 mRNA. Translation: BAG62647.1.
    AK027475 mRNA. Translation: BAB55140.1.
    AK293207 mRNA. Translation: BAG56747.1.
    AC027220 Genomic DNA. No translation available.
    BC037823 mRNA. Translation: AAH37823.1.
    BC007991 mRNA. Translation: AAH07991.1.
    CCDSiCCDS55969.1. [Q96SY0-3]
    RefSeqiNP_001193987.1. NM_001207058.1.
    NP_001193988.1. NM_001207059.1. [Q96SY0-3]
    XP_006720772.1. XM_006720709.1. [Q96SY0-4]
    XP_006720773.1. XM_006720710.1. [Q96SY0-4]
    XP_006720774.1. XM_006720711.1. [Q96SY0-4]
    UniGeneiHs.6686.

    Genome annotation databases

    EnsembliENST00000313182; ENSP00000326379; ENSG00000138614. [Q96SY0-1]
    ENST00000420799; ENSP00000408429; ENSG00000138614. [Q96SY0-3]
    ENST00000431261; ENSP00000402898; ENSG00000138614. [Q96SY0-4]
    GeneIDi81556.
    KEGGihsa:81556.
    UCSCiuc002apd.4. human. [Q96SY0-1]
    uc010ujb.2. human. [Q96SY0-3]

    Polymorphism databases

    DMDMi156631025.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136662 mRNA. Translation: CAB66597.1 .
    AK301033 mRNA. Translation: BAG62647.1 .
    AK027475 mRNA. Translation: BAB55140.1 .
    AK293207 mRNA. Translation: BAG56747.1 .
    AC027220 Genomic DNA. No translation available.
    BC037823 mRNA. Translation: AAH37823.1 .
    BC007991 mRNA. Translation: AAH07991.1 .
    CCDSi CCDS55969.1. [Q96SY0-3 ]
    RefSeqi NP_001193987.1. NM_001207058.1.
    NP_001193988.1. NM_001207059.1. [Q96SY0-3 ]
    XP_006720772.1. XM_006720709.1. [Q96SY0-4 ]
    XP_006720773.1. XM_006720710.1. [Q96SY0-4 ]
    XP_006720774.1. XM_006720711.1. [Q96SY0-4 ]
    UniGenei Hs.6686.

    3D structure databases

    ProteinModelPortali Q96SY0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96SY0. 1 interaction.
    MINTi MINT-4716759.

    PTM databases

    PhosphoSitei Q96SY0.

    Polymorphism databases

    DMDMi 156631025.

    Proteomic databases

    MaxQBi Q96SY0.
    PaxDbi Q96SY0.
    PRIDEi Q96SY0.

    Protocols and materials databases

    DNASUi 81556.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000313182 ; ENSP00000326379 ; ENSG00000138614 . [Q96SY0-1 ]
    ENST00000420799 ; ENSP00000408429 ; ENSG00000138614 . [Q96SY0-3 ]
    ENST00000431261 ; ENSP00000402898 ; ENSG00000138614 . [Q96SY0-4 ]
    GeneIDi 81556.
    KEGGi hsa:81556.
    UCSCi uc002apd.4. human. [Q96SY0-1 ]
    uc010ujb.2. human. [Q96SY0-3 ]

    Organism-specific databases

    CTDi 81556.
    GeneCardsi GC15M065872.
    H-InvDB HIX0012354.
    HGNCi HGNC:25372. VWA9.
    HPAi HPA040255.
    HPA040651.
    neXtProti NX_Q96SY0.
    PharmGKBi PA142672279.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86191.
    HOGENOMi HOG000006970.
    HOVERGENi HBG103632.
    InParanoidi Q96SY0.
    PhylomeDBi Q96SY0.
    TreeFami TF323245.

    Miscellaneous databases

    GenomeRNAii 81556.
    NextBioi 71816.

    Gene expression databases

    ArrayExpressi Q96SY0.
    Bgeei Q96SY0.
    CleanExi HS_C15orf44.
    Genevestigatori Q96SY0.

    Family and domain databases

    InterProi IPR002035. VWF_A.
    [Graphical view ]
    SMARTi SM00327. VWA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53300. SSF53300. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    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] (ISOFORMS 1; 3 AND 4).
      Tissue: Adrenal gland.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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).
      Tissue: Brain and Placenta.
    5. "Expression profiles of SV40-immortalization-associated genes upregulated in various human cancers."
      Jung H.M., Choi S.J., Kim J.K.
      J. Cell. Biochem. 106:703-713(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiVWA9_HUMAN
    AccessioniPrimary (citable) accession number: Q96SY0
    Secondary accession number(s): B4DDI6
    , B4DVD5, Q49AH8, Q96HX5, Q9H0S5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 88 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 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3