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Q96IP4

- FA46A_HUMAN

UniProt

Q96IP4 - FA46A_HUMAN

Protein

Protein FAM46A

Gene

FAM46A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 2 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. regulation of blood coagulation Source: UniProt
    2. regulation of gene expression Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM46A
    Alternative name(s):
    HBV X-transactivated gene 11 protein
    HBV XAg-transactivated protein 11
    Gene namesi
    Name:FAM46A
    Synonyms:C6orf37, XTP11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:18345. FAM46A.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38531.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 442442Protein FAM46APRO_0000259929Add
    BLAST

    Proteomic databases

    MaxQBiQ96IP4.
    PaxDbiQ96IP4.
    PRIDEiQ96IP4.

    PTM databases

    PhosphoSiteiQ96IP4.

    Expressioni

    Tissue specificityi

    Widely expressed, with preferential expression observed in the retina compared to other ocular tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ96IP4.
    BgeeiQ96IP4.
    CleanExiHS_FAM46A.
    GenevestigatoriQ96IP4.

    Interactioni

    Protein-protein interaction databases

    BioGridi120744. 18 interactions.
    IntActiQ96IP4. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96IP4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati24 – 2851
    Repeati29 – 3352
    Repeati34 – 3853
    Repeati39 – 4354

    Sequence similaritiesi

    Belongs to the FAM46 family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG310777.
    HOGENOMiHOG000234733.
    HOVERGENiHBG057969.
    InParanoidiQ96IP4.
    PhylomeDBiQ96IP4.
    TreeFamiTF315239.

    Family and domain databases

    InterProiIPR012937. DUF1693.
    [Graphical view]
    PfamiPF07984. DUF1693. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96IP4-1) [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

    MAEGEGYFAM SEDELACSPY IPLGGDFGGG DFGGGDFGGG DFGGGGSFGG    50
    HCLDYCESPT AHCNVLNWEQ VQRLDGILSE TIPIHGRGNF PTLELQPSLI 100
    VKVVRRRLAE KRIGVRDVRL NGSAASHVLH QDSGLGYKDL DLIFCADLRG 150
    EGEFQTVKDV VLDCLLDFLP EGVNKEKITP LTLKEAYVQK MVKVCNDSDR 200
    WSLISLSNNS GKNVELKFVD SLRRQFEFSV DSFQIKLDSL LLFYECSENP 250
    MTETFHPTII GESVYGDFQE AFDHLCNKII ATRNPEEIRG GGLLKYCNLL 300
    VRGFRPASDE IKTLQRYMCS RFFIDFSDIG EQQRKLESYL QNHFVGLEDR 350
    KYEYLMTLHG VVNESTVCLM GHERRQTLNL ITMLAIRVLA DQNVIPNVAN 400
    VTCYYQPAPY VADANFSNYY IAQVQPVFTC QQQTYSTWLP CN 442
    Length:442
    Mass (Da):49,666
    Last modified:October 14, 2008 - v2
    Checksum:iC72092C590C1E369
    GO
    Isoform 2 (identifier: Q96IP4-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:461
    Mass (Da):51,943
    Checksum:i40DEE86DB396F61A
    GO

    Sequence cautioni

    The sequence AAH00683.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti47 – 471S → T in AAM53071. (PubMed:12054608)Curated
    Sequence conflicti145 – 1451C → S in AAM53071. (PubMed:12054608)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241G → GGDFGG.2 Publications
    VAR_046649
    Natural varianti39 – 435Missing.2 Publications
    VAR_028978
    Natural varianti313 – 3131T → A.2 Publications
    VAR_028979

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MHQRYFWTDQGQVALGGHYM in isoform 2. 2 PublicationsVSP_035502

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF350451 mRNA. Translation: AAM53071.1.
    AY740520 mRNA. Translation: AAW66943.1.
    AK000044 mRNA. Translation: BAA90903.1.
    AK056057 mRNA. No translation available.
    AK292109 mRNA. Translation: BAF84798.1.
    AL078599 Genomic DNA. Translation: CAI23544.1.
    AL078599 Genomic DNA. Translation: CAI23545.1.
    CH471051 Genomic DNA. Translation: EAW48692.1.
    BC000683 mRNA. Translation: AAH00683.1. Different initiation.
    BC007351 mRNA. Translation: AAH07351.1.
    CCDSiCCDS34489.1. [Q96IP4-1]
    PIRiJC7837.
    RefSeqiNP_060103.2. NM_017633.2. [Q96IP4-1]
    UniGeneiHs.10784.

    Genome annotation databases

    EnsembliENST00000320172; ENSP00000318298; ENSG00000112773. [Q96IP4-1]
    ENST00000369754; ENSP00000358769; ENSG00000112773. [Q96IP4-2]
    GeneIDi55603.
    KEGGihsa:55603.
    UCSCiuc003pjf.3. human. [Q96IP4-2]
    uc003pjg.3. human. [Q96IP4-1]

    Polymorphism databases

    DMDMi209572613.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF350451 mRNA. Translation: AAM53071.1 .
    AY740520 mRNA. Translation: AAW66943.1 .
    AK000044 mRNA. Translation: BAA90903.1 .
    AK056057 mRNA. No translation available.
    AK292109 mRNA. Translation: BAF84798.1 .
    AL078599 Genomic DNA. Translation: CAI23544.1 .
    AL078599 Genomic DNA. Translation: CAI23545.1 .
    CH471051 Genomic DNA. Translation: EAW48692.1 .
    BC000683 mRNA. Translation: AAH00683.1 . Different initiation.
    BC007351 mRNA. Translation: AAH07351.1 .
    CCDSi CCDS34489.1. [Q96IP4-1 ]
    PIRi JC7837.
    RefSeqi NP_060103.2. NM_017633.2. [Q96IP4-1 ]
    UniGenei Hs.10784.

    3D structure databases

    ProteinModelPortali Q96IP4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120744. 18 interactions.
    IntActi Q96IP4. 2 interactions.

    PTM databases

    PhosphoSitei Q96IP4.

    Polymorphism databases

    DMDMi 209572613.

    Proteomic databases

    MaxQBi Q96IP4.
    PaxDbi Q96IP4.
    PRIDEi Q96IP4.

    Protocols and materials databases

    DNASUi 55603.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320172 ; ENSP00000318298 ; ENSG00000112773 . [Q96IP4-1 ]
    ENST00000369754 ; ENSP00000358769 ; ENSG00000112773 . [Q96IP4-2 ]
    GeneIDi 55603.
    KEGGi hsa:55603.
    UCSCi uc003pjf.3. human. [Q96IP4-2 ]
    uc003pjg.3. human. [Q96IP4-1 ]

    Organism-specific databases

    CTDi 55603.
    GeneCardsi GC06M082201.
    H-InvDB HIX0006030.
    HGNCi HGNC:18345. FAM46A.
    MIMi 611357. gene.
    neXtProti NX_Q96IP4.
    PharmGKBi PA38531.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310777.
    HOGENOMi HOG000234733.
    HOVERGENi HBG057969.
    InParanoidi Q96IP4.
    PhylomeDBi Q96IP4.
    TreeFami TF315239.

    Miscellaneous databases

    ChiTaRSi FAM46A. human.
    GeneWikii FAM46A.
    GenomeRNAii 55603.
    NextBioi 60149.
    PROi Q96IP4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96IP4.
    Bgeei Q96IP4.
    CleanExi HS_FAM46A.
    Genevestigatori Q96IP4.

    Family and domain databases

    InterProi IPR012937. DUF1693.
    [Graphical view ]
    Pfami PF07984. DUF1693. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14."
      Lagali P.S., Kakuk L.E., Griesinger I.B., Wong P.W., Ayyagari R.
      Biochem. Biophys. Res. Commun. 293:356-365(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT 39-GLY--GLY-43 DEL, TISSUE SPECIFICITY.
    2. "Homo sapiens HBV XAg-transactivated protein 11 (XTP11) mRNA."
      Liu Y., Li J., Cheng J., Ji D., Gong M., Zhang L., Chen J.
      Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND ALA-313.
      Tissue: Synovium.
    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 1 AND 2), VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND ALA-313.
      Tissue: Colon and Teratocarcinoma.
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 2), VARIANT GLY-ASP-PHE-GLY-GLY-24 INS.
      Tissue: Eye and Skin.
    7. "Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population."
      Cui J., Wang W., Lai M.D., Xu E.P., Lv B.J., Lin J., Ruan W.J., Ma Y., Yao C.
      Clin. Chim. Acta 368:155-159(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND 39-GLY--GLY-43 DEL.

    Entry informationi

    Entry nameiFA46A_HUMAN
    AccessioniPrimary (citable) accession number: Q96IP4
    Secondary accession number(s): A8K7U4
    , Q5TF86, Q8NFZ9, Q9BW32, Q9NXV5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 80 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 6
      Human chromosome 6: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3