1. Gene
  2. SLC30A5 - solute carrier family 30 member 5 Gene

SLC30A5 - solute carrier family 30 member 5 Gene

Homo sapiens

Also known as ZNT5; ZTL1; ZNTL1; ZnT-5

Gene ID: 64924 | Gene type: protein coding

About SLC30A5

Cytogenetic location: 5q13.1-q13.2 Genomic coordinates (GRCh38): 5:69,094,014-69,131,069 (from NCBI)

This gene has 8 transcripts (splice variants), 202 orthologues and 8 paralogues. Ubiquitous expression in thyroid (RPKM 17.6), gall bladder (RPKM 11.0) and 25 other tissues.

Summary

This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]

SLC30A5 Products(3)

mRNA Protein Name
NM_001251969.2 NP_001238898.1 zinc transporter 5 isoform 3
NM_022902.5 NP_075053.2 zinc transporter 5 isoform 1
NM_024055.5 NP_076960.1 zinc transporter 5 isoform 2

SLC30A5 Protein Structure

Cation_efflux

Cation_efflux: Cation efflux family (419 - 727)

  • 0
  • 200
  • 400
  • 600
  • 765 a.a.
Protein Preferred Names Protein Names

zinc transporter 5

solute carrier family 30 (zinc transporter), member 5

Related Diseases

Diseases Alias
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Hypermanganesemia With Dystonia 1

Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis

HMNDYT1

Hmdpc

Hypermanganesemia With Dystonia Polycythemia And Cirrhosis

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease

Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome

Acrodermatitis Enteropathica, Zinc-Deficiency Type

Acrodermatitis Enteropathica

AEZ

Enteropathica

Brandt Syndrome

Ae

Acrodermatitis Enteropathica Zinc Deficiency Type

Danbolt-Cross Syndrome

Acrodermatitis Enteropathica, Zinc Deficiency Type

Inherited Zinc Deficiency

Acrodermatitis Enteropathica, Zinc Deficiency

Danbolt-Closs Syndrome

Primary Zinc Malabsorption Syndrome

Hypermanganesemia With Dystonia 2

HMNDYT2

Dystonia-Parkinsonism-Hypermanganesemia Syndrome

Hypermanganesemia With Dystonia, Type 2

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Mucinous Stomach Adenocarcinoma

Mucinous Adenocarcinoma Of The Stomach

Mucinous Gastric Adenocarcinoma

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC30A5 RGD RGD:1306931
Canis familiaris SLC30A5 VGNC VGNC:46350
Bos taurus SLC30A5 VGNC VGNC:34809
Mus musculus SLC30A5 MGD MGI:1916298
Felis catus SLC30A5 VGNC VGNC:65311
Macaca mulatta SLC30A5 VGNC VGNC:77512