SLC45A1 - solute carrier family 45 member 1 Gene

Homo sapiens

Also known as DNB5; IDDNPF; PAST-A

Gene ID: 50651 | Gene type: protein coding

About SLC45A1

Cytogenetic location: 1p36.23 Genomic coordinates (GRCh38): 1:8,318,114-8,344,165 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues.

Summary

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

SLC45A1 Products(6)

mRNA	Protein	Name
NM_001080397.3	NP_001073866.3	proton-associated sugar transporter A isoform 2
NM_001379614.1	NP_001366543.1	proton-associated sugar transporter A isoform 1
NM_001379615.1	NP_001366544.1	proton-associated sugar transporter A isoform 3
NM_001379616.1	NP_001366545.1	proton-associated sugar transporter A isoform 4
NM_001379617.1	NP_001366546.1	proton-associated sugar transporter A isoform 5
NM_001379618.1	NP_001366547.1	proton-associated sugar transporter A isoform 6

SLC45A1 Protein Structure

MFS_1

0
200
400
600
748 a.a.

Protein Preferred Names

Protein Names

proton-associated sugar transporter A

H+/sugar symporter

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Neuropsychiatric Features

IDDNPF

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Neuroblastoma 5

Neuroblastoma, Susceptibility To, 5

NBLST5

Hypopigmentation Of Eyelid

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Brown-Vialetto-Van Laere Syndrome 1

BVVLS1	Pontobulbar Palsy With Deafness
Bulbar Palsy, Progressive, With Sensorineural Deafness	Rfvt2-Related Riboflavin Transporter Deficiency
Rtd2	Riboflavin Transporter Deficiency 2
Bulbar Palsy Progressive With Sensorineural Deafness	Riboflavin Transporter Deficiency Type 2
Brown-Vialetto-Van Laere Syndrome, Type 1	Brown-Vialetto-Van Laere Syndrome

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Brown-Vialetto-Van Laere Syndrome

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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-RS13256	SLC45A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC45A1	RGD	RGD:708502
Mus musculus	SLC45A1	MGD	MGI:2653235
Canis familiaris	SLC45A1	VGNC	VGNC:46422
Bos taurus	SLC45A1	VGNC	VGNC:34880
Macaca mulatta	SLC45A1	VGNC	VGNC:77732
Felis catus	SLC45A1	VGNC	VGNC:65376

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