SLC2A13 - solute carrier family 2 member 13 Gene

Homo sapiens

Also known as HMIT

Gene ID: 114134 | Gene type: protein coding

About SLC2A13

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:39,755,025-40,106,081 (from NCBI)

This gene has 4 transcripts (splice variants), 314 orthologues and 13 paralogues. Broad expression in brain (RPKM 11.8), kidney (RPKM 3.4) and 21 other tissues.

Summary

Enables ATPase binding activity; myo-inositol:proton symporter activity; and Protease binding activity. Involved in myo-inositol transport and positive regulation of amyloid-beta formation. Is integral component of plasma membrane. Part of cell body; cell periphery; and cell projection. [provided by Alliance of Genome Resources, Apr 2022]

SLC2A13 Products(1)

mRNA	Protein	Name
NM_052885.4	NP_443117.3	proton myo-inositol cotransporter

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables myo-inositol:proton symporter activity	IDA IDA: Inferred from direct assay	11500374	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in myo-inositol transport	IDA IDA: Inferred from direct assay	11500374	GOA
involved in positive regulation of amyloid-beta formation	IGI IGI: Inferred from genetic interaction	26094765	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell body	IDA IDA: Inferred from direct assay	19607714	GOA
located in cell periphery	IDA IDA: Inferred from direct assay	19607714	GOA
located in cell projection	IDA IDA: Inferred from direct assay	19607714	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11500374	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

SLC2A13 Protein Structure

Sugar_tr

0
100
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300
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648 a.a.

Protein Preferred Names

Protein Names

proton myo-inositol cotransporter

H(+)-myo-inositol symporter

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 32

RP32	Retinitis Pigmentosa-32

Amyotrophic Lateral Sclerosis Type 5

Amyotrophic Lateral Sclerosis 5

Als5

Arterial Tortuosity Syndrome

Arterial Tortuosity	Ats
ATORS	Tortuosity, Arterial, 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13162	SLC2A13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC2A13	VGNC	VGNC:34799
Rattus norvegicus	SLC2A13	RGD	RGD:621814
Mus musculus	SLC2A13	MGD	MGI:2146030
Canis familiaris	SLC2A13	VGNC	VGNC:46340
Macaca mulatta	SLC2A13	VGNC	VGNC:77491

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