TALAN_HUMAN
ID TALAN_HUMAN Reviewed; 216 AA.
AC Q70YC4;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Talanin;
GN Name=ZNF365; Synonyms=KIAA0844;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, INVOLVEMENT IN
RP UAN, AND VARIANT ALA-62.
RC TISSUE=Kidney;
RX PubMed=12740763; DOI=10.1086/375628;
RA Gianfrancesco F., Esposito T., Ombra M.N., Forabosco P., Maninchedda G.,
RA Fattorini M., Casula S., Vaccargiu S., Casu G., Cardia F., Deiana I.,
RA Melis P., Falchi M., Pirastu M.;
RT "Identification of a novel gene and a common variant associated with uric
RT acid nephrolithiasis in a Sardinian genetic isolate.";
RL Am. J. Hum. Genet. 72:1479-1491(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP ALTERNATIVE SPLICING.
RX PubMed=15363853; DOI=10.1016/j.gene.2004.06.030;
RA Gianfrancesco F., Esposito T., Casu G., Maninchedda G., Roberto R.,
RA Parastu M.;
RT "Emergence of talanin protein associated with human uric acid
RT nephrolithiasis in the hominidae lineage.";
RL Gene 339:131-138(2004).
CC -!- FUNCTION: May play a role in uric acid excretion.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Comment=Additional isoforms seem to exist.;
CC Name=4; Synonyms=Talanin, ZNF365D;
CC IsoId=Q70YC4-1; Sequence=Displayed;
CC Name=1; Synonyms=ZNF365A;
CC IsoId=Q70YC5-1; Sequence=External;
CC Name=2; Synonyms=ZNF365B;
CC IsoId=Q70YC5-2; Sequence=External;
CC Name=3; Synonyms=ZNF365C;
CC IsoId=Q70YC5-3; Sequence=External;
CC Name=5;
CC IsoId=Q70YC5-4; Sequence=External;
CC Name=6;
CC IsoId=Q70YC5-5; Sequence=External;
CC -!- TISSUE SPECIFICITY: Isoform 4 is expressed in placenta, lung, kidney
CC and pancreas. {ECO:0000269|PubMed:12740763}.
CC -!- POLYMORPHISM: Thr-62 is associated with increased risk for uric acid
CC nephrolithiasis. {ECO:0000269|PubMed:12740763}.
CC -!- DISEASE: Uric acid nephrolithiasis (UAN) [MIM:605990]: A form of
CC nephrolithiasis, a common multifactorial disease characterized by
CC stones formation in the kidney and urinary tract. Nephrolithiasis is
CC due to supersaturation of the urine by stone-forming constituents,
CC including calcium, oxalate and uric acid. Crystals or foreign bodies
CC can act as nidi, upon which ions from the supersaturated urine form
CC microscopic crystalline structures. Uric acid nephrolithiasis occurs
CC when the urine becomes overly concentrated with uric acid and accounts
CC for 20% of all stones. {ECO:0000269|PubMed:12740763}. Note=Disease
CC susceptibility is associated with variants affecting the gene
CC represented in this entry.
CC -!- MISCELLANEOUS: Isoform 4 (talanin) of ZNF365 does not exist in rodents.
CC In primates, a canonical intron-exon structure exist, with several stop
CC codons preventing talanin production in old world and new world
CC monkeys. It seems therefore that isoform 4 transcript emerged during
CC primate evolution from a noncoding genomic sequence.
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DR EMBL; AJ505150; CAD43729.1; -; mRNA.
DR EMBL; AC067751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_955524.3; NM_199452.3.
DR AlphaFoldDB; Q70YC4; -.
DR BioGRID; 116557; 13.
DR IntAct; Q70YC4; 2.
DR BioMuta; ZNF365; -.
DR PaxDb; Q70YC4; -.
DR PRIDE; Q70YC4; -.
DR DNASU; 22891; -.
DR GeneID; 22891; -.
DR UCSC; uc001jmd.1; human. [Q70YC4-1]
DR CTD; 22891; -.
DR DisGeNET; 22891; -.
DR GeneCards; ZNF365; -.
DR HGNC; HGNC:18194; ZNF365.
DR MalaCards; ZNF365; -.
DR MIM; 605990; phenotype.
DR MIM; 607818; gene.
DR neXtProt; NX_Q70YC4; -.
DR PharmGKB; PA134873576; -.
DR HOGENOM; CLU_118865_0_0_1; -.
DR PathwayCommons; Q70YC4; -.
DR SignaLink; Q70YC4; -.
DR BioGRID-ORCS; 22891; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; ZNF365; human.
DR GeneWiki; ZNF365; -.
DR GenomeRNAi; 22891; -.
DR Pharos; Q70YC4; Tbio.
DR Proteomes; UP000005640; Chromosome 10.
DR GO; GO:0005813; C:centrosome; IDA:MGI.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:MGI.
DR GO; GO:0033566; P:gamma-tubulin complex localization; IMP:MGI.
DR GO; GO:0000281; P:mitotic cytokinesis; IMP:MGI.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..216
FT /note="Talanin"
FT /id="PRO_0000076378"
FT VARIANT 62
FT /note="T -> A (in dbSNP:rs7076156)"
FT /evidence="ECO:0000269|PubMed:12740763"
FT /id="VAR_024326"
SQ SEQUENCE 216 AA; 24036 MW; A512D14205C87DA2 CRC64;
MSALGQITIT VSRCWNTERN QTDKNPCLHG AYLQLRETVK NKSTHLKKPL MKQAPPWKDH
LTFQPLHPAE RKTQVWRWQS GNSSDLETTS SASPWPTGSN RDVVLNTLAE SCCGLSELIT
APPYAGVSIQ GFSQIWVLFP FCGGTFHHNE KDVLGLQDFE RESVSTSQSR NISLLTLGQL
QNCVIGKLTI IDLLTEHLLG VRHGVICFPW GLPSSS
