SLC30A9 - solute carrier family 30 member 9 Gene

Homo sapiens

Also known as HUEL; ZNT9; GAC63; C4orf1; BILAPES

Gene ID: 10463 | Gene type: protein coding

About SLC30A9

Cytogenetic location: 4p13 Genomic coordinates (GRCh38): 4:41,990,530-42,090,461 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 32.5), brain (RPKM 27.2) and 25 other tissues.

Summary

Predicted to enable nuclear receptor coactivator activity. Involved in cellular zinc ion homeostasis and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

SLC30A9 Products(1)

mRNA	Protein	Name
NM_006345.4	NP_006336.3	zinc transporter 9

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables zinc ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	34716203	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular zinc ion homeostasis	IMP IMP: Inferred from mutant phenotype	28334855	GOA
involved in regulation of mitochondrion organization	IDA IDA: Inferred from direct assay	34716203	GOA
involved in zinc ion transport	IMP IMP: Inferred from mutant phenotype	28334855	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	28334855	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	10409434	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28334855	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	34716203	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10409434	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC30A9 Protein Structure

Cation_efflux

0
100
200
300
400
500
568 a.a.

Protein Preferred Names

Protein Names

zinc transporter 9

GRIP1-dependent nuclear receptor coactivator

Related Diseases

Diseases

Alias

Birk-Landau-Perez Syndrome

Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome	BILAPES
Cerebrorenal Syndrome, Perez Type

Mucinous Stomach Adenocarcinoma

Mucinous Adenocarcinoma Of The Stomach

Mucinous Gastric Adenocarcinoma

Hemochromatosis, Type 5

Hemochromatosis Type 5	HFE5
Fth1-Related Iron Overload	Iron Overload, Autosomal Dominant
Fth1-Associated Iron Overload	Hemochromatosis 5
Autosomal Dominant Iron Overload

Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10	CMS10
Lgm	Myasthenia, Limb-Girdle, Familial
Myasthenia, Limb-Girdle, Familial, Formerly	Lgm, Formerly
Congenital Myasthenic Syndrome Type Ib, Formerly	Cms1b, Formerly
Cms Ib, Formerly	Myasthenic Myopathy, Formerly
Familial Limb-Girdle Myasthenia	Cms1b
Cms Ib	Congenital Myasthenic Syndrome Type 1b
Congenital Myasthenic Syndrome Type Ib	Myasthenic Myopathy
Myasthenic Syndrome, Congenital, Type 10	Congenital Myasthenic Syndrome Ib
Myopathy In Myasthenia Gravis

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13187	SLC30A9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC30A9	VGNC	VGNC:34812
Macaca mulatta	SLC30A9	VGNC	VGNC:77464
Canis familiaris	SLC30A9	VGNC	VGNC:46354
Rattus norvegicus	SLC30A9	RGD	RGD:1593180
Mus musculus	SLC30A9	MGD	MGI:1923690
Felis catus	SLC30A9	VGNC	VGNC:65315

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