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SLC45A1 - solute carrier family 45 member 1 Gene

Also Known as DNB5; IDDNPF; PAST-A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50651

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables D-glucose:proton symporter activity	IMP IMP: Inferred from mutant phenotype	28434495	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in D-glucose transmembrane transport	IMP IMP: Inferred from mutant phenotype	28434495	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

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

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 Set	/	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
Others	SLC45A1	NCBI