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Q14320

- FA50A_HUMAN

UniProt

Q14320 - FA50A_HUMAN

Protein

Protein FAM50A

Gene

FAM50A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    Functioni

    May be a DNA-binding protein or transcriptional factor.1 Publication

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. spermatogenesis Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM50A
    Alternative name(s):
    Protein HXC-26
    Protein XAP-5
    Gene namesi
    Name:FAM50A
    Synonyms:DXS9928E, HXC26, XAP5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:18786. FAM50A.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134984709.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 339338Protein FAM50APRO_0000068284Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ14320.
    PaxDbiQ14320.
    PeptideAtlasiQ14320.
    PRIDEiQ14320.

    PTM databases

    PhosphoSiteiQ14320.

    Expressioni

    Tissue specificityi

    Expressed in all tissues examined. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine.1 Publication

    Gene expression databases

    ArrayExpressiQ14320.
    BgeeiQ14320.
    CleanExiHS_FAM50A.
    GenevestigatoriQ14320.

    Organism-specific databases

    HPAiHPA003585.

    Interactioni

    Protein-protein interaction databases

    BioGridi114578. 4 interactions.
    IntActiQ14320. 1 interaction.
    MINTiMINT-3029323.
    STRINGi9606.ENSP00000377225.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14320.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi152 – 1554Nuclear localization signalSequence Analysis

    Sequence similaritiesi

    Belongs to the FAM50 family.Curated

    Phylogenomic databases

    eggNOGiNOG252249.
    HOGENOMiHOG000283611.
    HOVERGENiHBG000678.
    InParanoidiQ14320.
    KOiK13119.
    OMAiVMADQLM.
    PhylomeDBiQ14320.
    TreeFamiTF314738.

    Family and domain databases

    InterProiIPR007005. XAP5.
    [Graphical view]
    PANTHERiPTHR12722. PTHR12722. 1 hit.
    PfamiPF04921. XAP5. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q14320-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS    50
    AHYDAVEAEL KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK 100
    LEKLREKERK KEAKRKISSL SFTLEEEEEG GEEEEEAAMY EEEMEREEIT 150
    TKKRKLGKNP DVDTSFLPDR DREEEENRLR EELRQEWEAK QEKIKSEEIE 200
    ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE LRSAGVEQLM 250
    YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE 300
    SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR 339
    Length:339
    Mass (Da):40,242
    Last modified:January 11, 2001 - v2
    Checksum:i88BCA57E49B0AA32
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti166 – 1661F → S in BAF85808. (PubMed:14702039)Curated
    Sequence conflicti330 – 3301E → G in BAF85808. (PubMed:14702039)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AD001530 mRNA. Translation: AAB81663.1.
    AK293119 mRNA. Translation: BAF85808.1.
    AK313697 mRNA. Translation: BAG36444.1.
    BX936365 Genomic DNA. Translation: CAI43193.1.
    CH471172 Genomic DNA. Translation: EAW72708.1.
    BC000028 mRNA. Translation: AAH00028.1.
    BC015499 mRNA. Translation: AAH15499.1.
    D83389 Genomic DNA. Translation: BAA11907.1.
    D83260 mRNA. Translation: BAA11871.1.
    L44140 Genomic DNA. Translation: AAA92649.1.
    CCDSiCCDS14751.1.
    PIRiJC5276.
    RefSeqiNP_004690.1. NM_004699.3.
    UniGeneiHs.54277.

    Genome annotation databases

    EnsembliENST00000393600; ENSP00000377225; ENSG00000071859.
    GeneIDi9130.
    KEGGihsa:9130.
    UCSCiuc004fll.4. human.

    Polymorphism databases

    DMDMi12231058.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AD001530 mRNA. Translation: AAB81663.1 .
    AK293119 mRNA. Translation: BAF85808.1 .
    AK313697 mRNA. Translation: BAG36444.1 .
    BX936365 Genomic DNA. Translation: CAI43193.1 .
    CH471172 Genomic DNA. Translation: EAW72708.1 .
    BC000028 mRNA. Translation: AAH00028.1 .
    BC015499 mRNA. Translation: AAH15499.1 .
    D83389 Genomic DNA. Translation: BAA11907.1 .
    D83260 mRNA. Translation: BAA11871.1 .
    L44140 Genomic DNA. Translation: AAA92649.1 .
    CCDSi CCDS14751.1.
    PIRi JC5276.
    RefSeqi NP_004690.1. NM_004699.3.
    UniGenei Hs.54277.

    3D structure databases

    ProteinModelPortali Q14320.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114578. 4 interactions.
    IntActi Q14320. 1 interaction.
    MINTi MINT-3029323.
    STRINGi 9606.ENSP00000377225.

    PTM databases

    PhosphoSitei Q14320.

    Polymorphism databases

    DMDMi 12231058.

    Proteomic databases

    MaxQBi Q14320.
    PaxDbi Q14320.
    PeptideAtlasi Q14320.
    PRIDEi Q14320.

    Protocols and materials databases

    DNASUi 9130.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393600 ; ENSP00000377225 ; ENSG00000071859 .
    GeneIDi 9130.
    KEGGi hsa:9130.
    UCSCi uc004fll.4. human.

    Organism-specific databases

    CTDi 9130.
    GeneCardsi GC0XP153672.
    HGNCi HGNC:18786. FAM50A.
    HPAi HPA003585.
    MIMi 300453. gene.
    neXtProti NX_Q14320.
    PharmGKBi PA134984709.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG252249.
    HOGENOMi HOG000283611.
    HOVERGENi HBG000678.
    InParanoidi Q14320.
    KOi K13119.
    OMAi VMADQLM.
    PhylomeDBi Q14320.
    TreeFami TF314738.

    Miscellaneous databases

    ChiTaRSi FAM50A. human.
    GeneWikii FAM50A.
    GenomeRNAii 9130.
    NextBioi 34225.
    PROi Q14320.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14320.
    Bgeei Q14320.
    CleanExi HS_FAM50A.
    Genevestigatori Q14320.

    Family and domain databases

    InterProi IPR007005. XAP5.
    [Graphical view ]
    PANTHERi PTHR12722. PTHR12722. 1 hit.
    Pfami PF04921. XAP5. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Differential expression of XAP5, a candidate disease gene."
      Mazzarella R., Pengue G., Yoon J., Jones J., Schlessinger D.
      Genomics 45:216-219(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    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].
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
      Tissue: Colon and Placenta.
    6. "Isolation and analysis of a novel gene, HXC-26, adjacent to the rab GDP dissociation inhibitor gene located at human chromosome Xq28 region."
      Toyoda A., Sakai T., Sugiyama Y., Kusuda J., Hashimoto K., Maeda H.
      DNA Res. 3:337-340(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 15-339.
      Tissue: Skeletal muscle.
    7. "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci."
      Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M.
      Hum. Mol. Genet. 5:659-668(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-339.
    8. Lubec G., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 159-170, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Fetal brain cortex.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiFA50A_HUMAN
    AccessioniPrimary (citable) accession number: Q14320
    Secondary accession number(s): A8KAQ4
    , B2R997, Q5HY37, Q6PJH5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 11, 2001
    Last modified: October 1, 2014
    This is version 115 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3