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Q8N5J2

- FA63A_HUMAN

UniProt

Q8N5J2 - FA63A_HUMAN

Protein

Protein FAM63A

Gene

FAM63A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM63A
    Gene namesi
    Name:FAM63A
    Synonyms:KIAA1390
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:25648. FAM63A.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671872.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 469469Protein FAM63APRO_0000344037Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei103 – 1031PhosphoserineBy similarity
    Modified residuei441 – 4411PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8N5J2.
    PaxDbiQ8N5J2.
    PRIDEiQ8N5J2.

    PTM databases

    PhosphoSiteiQ8N5J2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N5J2.
    BgeeiQ8N5J2.
    CleanExiHS_FAM63A.
    GenevestigatoriQ8N5J2.

    Organism-specific databases

    HPAiHPA028351.
    HPA028358.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NAA38O957771EBI-372322,EBI-347779

    Protein-protein interaction databases

    BioGridi120906. 2 interactions.
    IntActiQ8N5J2. 2 interactions.
    STRINGi9606.ENSP00000354814.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N5J2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi386 – 43146Gln-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the FAM63 family.Curated

    Phylogenomic databases

    eggNOGiNOG307988.
    HOVERGENiHBG054318.
    InParanoidiQ8N5J2.
    OMAiVIPENHE.
    OrthoDBiEOG7Q5HD8.
    PhylomeDBiQ8N5J2.
    TreeFamiTF314589.

    Family and domain databases

    InterProiIPR007518. DUF544.
    [Graphical view]
    PANTHERiPTHR18063. PTHR18063. 1 hit.
    PfamiPF04424. DUF544. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5J2-1) [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

    MEYHQPEDPA PGKAGTAEAV IPENHEVLAG PDEHPQDTDA RDADGEARER    50
    EPADQALLPS QCGDNLESPL PEASSAPPGP TLGTLPEVET IRACSMPQEL 100
    PQSPRTRQPE PDFYCVKWIP WKGEQTPIIT QSTNGPCPLL AIMNILFLQW 150
    KVKLPPQKEV ITSDELMAHL GNCLLSIKPQ EKSEGLQLNF QQNVDDAMTV 200
    LPKLATGLDV NVRFTGVSDF EYTPECSVFD LLGIPLYHGW LVDPQSPEAV 250
    RAVGKLSYNQ LVERIITCKH SSDTNLVTEG LIAEQFLETT AAQLTYHGLC 300
    ELTAAAKEGE LSVFFRNNHF STMTKHKSHL YLLVTDQGFL QEEQVVWESL 350
    HNVDGDSCFC DSDFHLSHSL GKGPGAEGGS GSPETQLQVD QDYLIALSLQ 400
    QQQPRGPLGL TDLELAQQLQ QEEYQQQQAA QPVRMRTRVL SLQGRGATSG 450
    RPAGERRQRP KHESDCILL 469
    Length:469
    Mass (Da):51,778
    Last modified:November 2, 2010 - v2
    Checksum:iFEB658BAF8A878C6
    GO
    Isoform 2 (identifier: Q8N5J2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-142: Missing.

    Show »
    Length:327
    Mass (Da):36,458
    Checksum:iA0B153B6B2217B7A
    GO
    Isoform 3 (identifier: Q8N5J2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MLLGPPPFNESTKPSPSPCHSFASQAWLRQVPEVSKHLQCPSAKSLLTM

    Show »
    Length:517
    Mass (Da):56,991
    Checksum:i6BBA4F7A62BF16FD
    GO
    Isoform 4 (identifier: Q8N5J2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-95: Missing.

    Show »
    Length:374
    Mass (Da):41,833
    Checksum:i49C3DA92F5491B1A
    GO

    Sequence cautioni

    The sequence BAA92628.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2871L → P in BAA92104. (PubMed:14702039)Curated
    Sequence conflicti367 – 3671S → R in BAA92104. (PubMed:14702039)Curated
    Isoform 3 (identifier: Q8N5J2-3)
    Sequence conflicti44 – 441K → E in BAG63364. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti385 – 3851T → K.4 Publications
    Corresponds to variant rs2925741 [ dbSNP | Ensembl ].
    VAR_044541

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 142142Missing in isoform 2. 1 PublicationVSP_034715Add
    BLAST
    Alternative sequencei1 – 9595Missing in isoform 4. 1 PublicationVSP_037076Add
    BLAST
    Alternative sequencei1 – 11M → MLLGPPPFNESTKPSPSPCH SFASQAWLRQVPEVSKHLQC PSAKSLLTM in isoform 3. 1 PublicationVSP_037077

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037811 mRNA. Translation: BAA92628.1. Different initiation.
    AK002142 mRNA. Translation: BAA92104.1.
    AK125493 mRNA. Translation: BAG54206.1.
    AK125959 mRNA. Translation: BAG54270.1.
    AK301946 mRNA. Translation: BAG63364.1.
    AK303962 mRNA. Translation: BAG64886.1.
    AL590133 Genomic DNA. Translation: CAI13336.1.
    CH471121 Genomic DNA. Translation: EAW53491.1.
    CH471121 Genomic DNA. Translation: EAW53492.1.
    CH471121 Genomic DNA. Translation: EAW53493.1.
    CH471121 Genomic DNA. Translation: EAW53495.1.
    BC032321 mRNA. Translation: AAH32321.1.
    CCDSiCCDS30854.1. [Q8N5J2-2]
    CCDS53361.1. [Q8N5J2-3]
    CCDS55635.1. [Q8N5J2-4]
    CCDS976.1. [Q8N5J2-1]
    RefSeqiNP_001035307.1. NM_001040217.2.
    NP_001156730.1. NM_001163258.1.
    NP_001156731.1. NM_001163259.1.
    NP_001156732.1. NM_001163260.1.
    NP_060849.2. NM_018379.4.
    XP_005245380.1. XM_005245323.1. [Q8N5J2-1]
    XP_006711511.1. XM_006711448.1. [Q8N5J2-3]
    UniGeneiHs.743952.

    Genome annotation databases

    EnsembliENST00000312210; ENSP00000310923; ENSG00000143409. [Q8N5J2-2]
    ENST00000361738; ENSP00000354669; ENSG00000143409. [Q8N5J2-3]
    ENST00000361936; ENSP00000354814; ENSG00000143409. [Q8N5J2-1]
    ENST00000493834; ENSP00000437174; ENSG00000143409. [Q8N5J2-4]
    GeneIDi55793.
    KEGGihsa:55793.
    UCSCiuc001ewf.3. human. [Q8N5J2-1]

    Polymorphism databases

    DMDMi311033379.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037811 mRNA. Translation: BAA92628.1 . Different initiation.
    AK002142 mRNA. Translation: BAA92104.1 .
    AK125493 mRNA. Translation: BAG54206.1 .
    AK125959 mRNA. Translation: BAG54270.1 .
    AK301946 mRNA. Translation: BAG63364.1 .
    AK303962 mRNA. Translation: BAG64886.1 .
    AL590133 Genomic DNA. Translation: CAI13336.1 .
    CH471121 Genomic DNA. Translation: EAW53491.1 .
    CH471121 Genomic DNA. Translation: EAW53492.1 .
    CH471121 Genomic DNA. Translation: EAW53493.1 .
    CH471121 Genomic DNA. Translation: EAW53495.1 .
    BC032321 mRNA. Translation: AAH32321.1 .
    CCDSi CCDS30854.1. [Q8N5J2-2 ]
    CCDS53361.1. [Q8N5J2-3 ]
    CCDS55635.1. [Q8N5J2-4 ]
    CCDS976.1. [Q8N5J2-1 ]
    RefSeqi NP_001035307.1. NM_001040217.2.
    NP_001156730.1. NM_001163258.1.
    NP_001156731.1. NM_001163259.1.
    NP_001156732.1. NM_001163260.1.
    NP_060849.2. NM_018379.4.
    XP_005245380.1. XM_005245323.1. [Q8N5J2-1 ]
    XP_006711511.1. XM_006711448.1. [Q8N5J2-3 ]
    UniGenei Hs.743952.

    3D structure databases

    ProteinModelPortali Q8N5J2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120906. 2 interactions.
    IntActi Q8N5J2. 2 interactions.
    STRINGi 9606.ENSP00000354814.

    PTM databases

    PhosphoSitei Q8N5J2.

    Polymorphism databases

    DMDMi 311033379.

    Proteomic databases

    MaxQBi Q8N5J2.
    PaxDbi Q8N5J2.
    PRIDEi Q8N5J2.

    Protocols and materials databases

    DNASUi 55793.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312210 ; ENSP00000310923 ; ENSG00000143409 . [Q8N5J2-2 ]
    ENST00000361738 ; ENSP00000354669 ; ENSG00000143409 . [Q8N5J2-3 ]
    ENST00000361936 ; ENSP00000354814 ; ENSG00000143409 . [Q8N5J2-1 ]
    ENST00000493834 ; ENSP00000437174 ; ENSG00000143409 . [Q8N5J2-4 ]
    GeneIDi 55793.
    KEGGi hsa:55793.
    UCSCi uc001ewf.3. human. [Q8N5J2-1 ]

    Organism-specific databases

    CTDi 55793.
    GeneCardsi GC01M150965.
    H-InvDB HIX0001041.
    HGNCi HGNC:25648. FAM63A.
    HPAi HPA028351.
    HPA028358.
    neXtProti NX_Q8N5J2.
    PharmGKBi PA142671872.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307988.
    HOVERGENi HBG054318.
    InParanoidi Q8N5J2.
    OMAi VIPENHE.
    OrthoDBi EOG7Q5HD8.
    PhylomeDBi Q8N5J2.
    TreeFami TF314589.

    Miscellaneous databases

    ChiTaRSi FAM63A. human.
    GenomeRNAii 55793.
    NextBioi 35535065.
    PROi Q8N5J2.

    Gene expression databases

    ArrayExpressi Q8N5J2.
    Bgeei Q8N5J2.
    CleanExi HS_FAM63A.
    Genevestigatori Q8N5J2.

    Family and domain databases

    InterProi IPR007518. DUF544.
    [Graphical view ]
    PANTHERi PTHR18063. PTHR18063. 1 hit.
    Pfami PF04424. DUF544. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-385.
      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; 2; 3 AND 4), VARIANT LYS-385.
      Tissue: Placenta, Testis and Trachea.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LYS-385.
    5. "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 LYS-385.
      Tissue: Brain.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiFA63A_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5J2
    Secondary accession number(s): B3KWP4
    , B3KWV8, B4DXF2, B4E1S4, D3DV09, J3KP53, Q5SZF0, Q9NUL9, Q9P2F7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 22, 2008
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 91 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3