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Q70YC4

- TALAN_HUMAN

UniProt

Q70YC4 - TALAN_HUMAN

Protein

Talanin

Gene

ZNF365

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 66 (01 Oct 2014)
      Sequence version 2 (03 Apr 2007)
      Previous versions | rss
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    Functioni

    May play a role in uric acid excretion.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Talanin
    Gene namesi
    Name:ZNF365
    Synonyms:KIAA0844
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:18194. ZNF365.

    Pathology & Biotechi

    Involvement in diseasei

    Uric acid nephrolithiasis (UAN) [MIM:605990]: A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi605990. phenotype.
    Orphaneti2073. Narcolepsy-cataplexy.
    PharmGKBiPA134873576.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 216216TalaninPRO_0000076378Add
    BLAST

    Proteomic databases

    PaxDbiQ70YC4.
    PRIDEiQ70YC4.

    Expressioni

    Tissue specificityi

    Isoform 4 is expressed in placenta, lung, kidney and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiQ70YC4.
    BgeeiQ70YC4.
    CleanExiHS_ZNF365.
    GenevestigatoriQ70YC4.

    Interactioni

    Protein-protein interaction databases

    BioGridi116557. 2 interactions.
    STRINGi9606.ENSP00000387091.

    Structurei

    3D structure databases

    ProteinModelPortaliQ70YC4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG41382.
    HOGENOMiHOG000154506.
    KOiK16737.
    OMAiAPRENHI.
    OrthoDBiEOG7NSB28.

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 4 (identifier: Q70YC4-1) [UniParc]FASTAAdd to Basket

    Also known as: Talanin, ZNF365D

    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

    MSALGQITIT VSRCWNTERN QTDKNPCLHG AYLQLRETVK NKSTHLKKPL    50
    MKQAPPWKDH LTFQPLHPAE RKTQVWRWQS GNSSDLETTS SASPWPTGSN 100
    RDVVLNTLAE SCCGLSELIT APPYAGVSIQ GFSQIWVLFP FCGGTFHHNE 150
    KDVLGLQDFE RESVSTSQSR NISLLTLGQL QNCVIGKLTI IDLLTEHLLG 200
    VRHGVICFPW GLPSSS 216
    Length:216
    Mass (Da):24,036
    Last modified:April 3, 2007 - v2
    Checksum:iA512D14205C87DA2
    GO
    Isoform 1 (identifier: Q70YC5-1) [UniParc]FASTAAdd to Basket

    Also known as: ZNF365A

    The sequence of this isoform can be found in the external entry Q70YC5.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
    Length:407
    Mass (Da):46,542
    GO
    Isoform 2 (identifier: Q70YC5-2) [UniParc]FASTAAdd to Basket

    Also known as: ZNF365B

    The sequence of this isoform can be found in the external entry Q70YC5.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
    Length:333
    Mass (Da):38,217
    GO
    Isoform 3 (identifier: Q70YC5-3) [UniParc]FASTAAdd to Basket

    Also known as: ZNF365C

    The sequence of this isoform can be found in the external entry Q70YC5.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
    Length:462
    Mass (Da):52,501
    GO
    Isoform 5 (identifier: Q70YC5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform can be found in the external entry Q70YC5.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

    Note: No experimental confirmation available.

    Length:422
    Mass (Da):48,304
    GO
    Isoform 6 (identifier: Q70YC5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform can be found in the external entry Q70YC5.
    Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

    Note: No experimental confirmation available.

    Length:51
    Mass (Da):5,654
    GO

    Polymorphismi

    Thr-62 is associated with increased risk for uric acid nephrolithiasis.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti62 – 621T → A.1 Publication
    Corresponds to variant rs7076156 [ dbSNP | Ensembl ].
    VAR_024326

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ505150 mRNA. Translation: CAD43729.1.
    AC067751 Genomic DNA. No translation available.
    CCDSiCCDS7265.1. [Q70YC4-1]
    RefSeqiNP_955524.3. NM_199452.3.
    UniGeneiHs.22653.

    Genome annotation databases

    EnsembliENST00000395251; ENSP00000378672; ENSG00000138311. [Q70YC4-1]
    GeneIDi22891.
    KEGGihsa:22891.
    UCSCiuc001jmd.1. human. [Q70YC4-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ505150 mRNA. Translation: CAD43729.1 .
    AC067751 Genomic DNA. No translation available.
    CCDSi CCDS7265.1. [Q70YC4-1 ]
    RefSeqi NP_955524.3. NM_199452.3.
    UniGenei Hs.22653.

    3D structure databases

    ProteinModelPortali Q70YC4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116557. 2 interactions.
    STRINGi 9606.ENSP00000387091.

    Proteomic databases

    PaxDbi Q70YC4.
    PRIDEi Q70YC4.

    Protocols and materials databases

    DNASUi 22891.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000395251 ; ENSP00000378672 ; ENSG00000138311 . [Q70YC4-1 ]
    GeneIDi 22891.
    KEGGi hsa:22891.
    UCSCi uc001jmd.1. human. [Q70YC4-1 ]

    Organism-specific databases

    CTDi 22891.
    GeneCardsi GC10P064133.
    HGNCi HGNC:18194. ZNF365.
    MIMi 605990. phenotype.
    607818. gene.
    neXtProti NX_Q70YC4.
    Orphaneti 2073. Narcolepsy-cataplexy.
    PharmGKBi PA134873576.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41382.
    HOGENOMi HOG000154506.
    KOi K16737.
    OMAi APRENHI.
    OrthoDBi EOG7NSB28.

    Miscellaneous databases

    GeneWikii ZNF365.
    GenomeRNAii 22891.
    NextBioi 43497.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q70YC4.
    Bgeei Q70YC4.
    CleanExi HS_ZNF365.
    Genevestigatori Q70YC4.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate."
      Gianfrancesco F., Esposito T., Ombra M.N., Forabosco P., Maninchedda G., Fattorini M., Casula S., Vaccargiu S., Casu G., Cardia F., Deiana I., Melis P., Falchi M., Pirastu M.
      Am. J. Hum. Genet. 72:1479-1491(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, INVOLVEMENT IN UAN, VARIANT ALA-62.
      Tissue: Kidney.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Emergence of talanin protein associated with human uric acid nephrolithiasis in the hominidae lineage."
      Gianfrancesco F., Esposito T., Casu G., Maninchedda G., Roberto R., Parastu M.
      Gene 339:131-138(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING.

    Entry informationi

    Entry nameiTALAN_HUMAN
    AccessioniPrimary (citable) accession number: Q70YC4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 66 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

    Miscellaneous

    Isoform 4 (talanin) of ZNF365 does not exist in rodents. In primates, a canonical intron-exon structure exist, with several stop codons preventing talanin production in old world and new world monkeys. It seems therefore that isoform 4 transcript emerged during primate evolution from a noncoding genomic sequence.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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

    External Data

    Dasty 3