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Q70YC4 (TALAN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 63. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Talanin
Gene names
Name:ZNF365
Synonyms:KIAA0844
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length216 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May play a role in uric acid excretion.

Tissue specificity

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

Polymorphism

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

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.1

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.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 4 (identifier: Q70YC4-1)

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.
Isoform 1 (identifier: Q70YC5-1)

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.
Isoform 2 (identifier: Q70YC5-2)

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.
Isoform 3 (identifier: Q70YC5-3)

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.
Isoform 5 (identifier: Q70YC5-4)

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.
Isoform 6 (identifier: Q70YC5-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 216216Talanin
PRO_0000076378

Natural variations

Natural variant621T → A. Ref.1
Corresponds to variant rs7076156 [ dbSNP | Ensembl ].
VAR_024326

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 (Talanin) (ZNF365D) [UniParc].

Last modified April 3, 2007. Version 2.
Checksum: A512D14205C87DA2

FASTA21624,036
        10         20         30         40         50         60 
MSALGQITIT VSRCWNTERN QTDKNPCLHG AYLQLRETVK NKSTHLKKPL MKQAPPWKDH 

        70         80         90        100        110        120 
LTFQPLHPAE RKTQVWRWQS GNSSDLETTS SASPWPTGSN RDVVLNTLAE SCCGLSELIT 

       130        140        150        160        170        180 
APPYAGVSIQ GFSQIWVLFP FCGGTFHHNE KDVLGLQDFE RESVSTSQSR NISLLTLGQL 

       190        200        210 
QNCVIGKLTI IDLLTEHLLG VRHGVICFPW GLPSSS 

« Hide

Isoform 1 (ZNF365A) [UniParc].

See Q70YC5.

Isoform 2 (ZNF365B) [UniParc].

See Q70YC5.

Isoform 3 (ZNF365C) [UniParc].

See Q70YC5.

Isoform 5 [UniParc].

See Q70YC5.

Isoform 6 [UniParc].

See Q70YC5.

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ505150 mRNA. Translation: CAD43729.1.
AC067751 Genomic DNA. No translation available.
RefSeqNP_955524.3. NM_199452.3.
UniGeneHs.22653.

3D structure databases

ProteinModelPortalQ70YC4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116557. 2 interactions.
STRING9606.ENSP00000387091.

Proteomic databases

PaxDbQ70YC4.
PRIDEQ70YC4.

Protocols and materials databases

DNASU22891.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000395251; ENSP00000378672; ENSG00000138311. [Q70YC4-1]
GeneID22891.
KEGGhsa:22891.
UCSCuc001jmd.1. human. [Q70YC4-1]

Organism-specific databases

CTD22891.
GeneCardsGC10P064133.
HGNCHGNC:18194. ZNF365.
MIM605990. phenotype.
607818. gene.
neXtProtNX_Q70YC4.
Orphanet2073. Narcolepsy-cataplexy.
PharmGKBPA134873576.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41382.
HOGENOMHOG000154506.
KOK16737.
OrthoDBEOG7NSB28.

Gene expression databases

ArrayExpressQ70YC4.
BgeeQ70YC4.
CleanExHS_ZNF365.
GenevestigatorQ70YC4.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiZNF365.
GenomeRNAi22891.
NextBio43497.
SOURCESearch...

Entry information

Entry nameTALAN_HUMAN
AccessionPrimary (citable) accession number: Q70YC4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: April 3, 2007
Last modified: March 19, 2014
This is version 63 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM