HuLPr50111

Uniprot ID

S39AD_HUMAN

Uniprot Acc

Q96H72;D3DQR6;D3DQR7;Q659D9;Q8N7C9;Q8WV10;

Protein name

Zinc transporter ZIP13

Comment

FUNCTION: Acts as a zinc-influx transporter (Potential).||SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).||ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96H72-1; Sequence=Displayed; Name=2; IsoId=Q96H72-2; Sequence=VSP 029819;||DISEASE: Defects in SLC39A13 are the cause of Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) [MIM:612350]. SCD- EDS is a 'spondylocheiro dysplastic form of Ehlers-Danlos syndrome'. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers- Danlos-like phenot

Subcellular localization

Membrane; Multi-pass membrane protein (Potential).

Gene name

solute carrier family 39 (zinc transporter), member 13

Protein sequence

MPGCPCPGCGMAGPRLLFLTALALELLERAGGSQPALRSR GTATACRLDNKESESWGALLSGERLDTWICSLLGSLMVG LSGVFPLLVIPLEMGTMLRSEAGAWRLKQLLSFALGGLL GNVFLHLLPEAWAYTCSASPGGEGQSLQQQQQLGLWVIA GILTFLALEKMFLDSKEEGTSQAPNKDPTAAAAALNGGH CLAQPAAEPGLGAVVRSIKVSGYLNLLANTIDNFTHGLA VAASFLVSKKIGLLTTMAILLHEIPHEVGDFAILLRAGF DRWSAAKLQLSTALGGLLGAGFAICTQSPKGVVGCSPAA EETAAWVLPFTSGGFLYIALVNVLPDLLEEEDPWRSLQQ LLLLCAGIVVMVLFSLFVD

Database cross reference

RefSeq Protein accession:NP_001121697
RefSeq Protein gi:190014617

GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.

GO-F

GO:0046873; F:metal ion transmembrane transporter activity; IEA:InterPro.

GO-P

GO:0006829; P:zinc ion transport; IEA:UniProtKB-KW.