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Q70YC4

- TALAN_HUMAN

UniProt

Q70YC4 - TALAN_HUMAN

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Protein

Talanin

Gene

ZNF365

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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

BgeeiQ70YC4.
CleanExiHS_ZNF365.
ExpressionAtlasiQ70YC4. baseline and differential.
GenevestigatoriQ70YC4.

Interactioni

Protein-protein interaction databases

BioGridi116557. 2 interactions.
STRINGi9606.ENSP00000387091.

Structurei

3D structure databases

ProteinModelPortaliQ70YC4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG41382.
GeneTreeiENSGT00530000063713.
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

        10         20         30         40         50
MSALGQITIT VSRCWNTERN QTDKNPCLHG AYLQLRETVK NKSTHLKKPL
60 70 80 90 100
MKQAPPWKDH LTFQPLHPAE RKTQVWRWQS GNSSDLETTS SASPWPTGSN
110 120 130 140 150
RDVVLNTLAE SCCGLSELIT APPYAGVSIQ GFSQIWVLFP FCGGTFHHNE
160 170 180 190 200
KDVLGLQDFE RESVSTSQSR NISLLTLGQL QNCVIGKLTI IDLLTEHLLG
210
VRHGVICFPW GLPSSS
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]
ENST00000614806; ENSP00000481372; 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 ]
ENST00000614806 ; ENSP00000481372 ; 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.
GeneTreei ENSGT00530000063713.
HOGENOMi HOG000154506.
KOi K16737.
OMAi APRENHI.
OrthoDBi EOG7NSB28.

Miscellaneous databases

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

Gene expression databases

Bgeei Q70YC4.
CleanExi HS_ZNF365.
ExpressionAtlasi Q70YC4. baseline and differential.
Genevestigatori Q70YC4.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 67 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