SLC30A9 - solute carrier family 30 member 9 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10463

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 References Source
enables zinc ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
34716203 GOA
Biological Process GO Annotation Evidence References 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 References 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

Cation_efflux: Cation efflux family (242 - 518)

  • 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

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 Set / 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
Others SLC30A9 NCBI