SLC45A1 solute carrier family 45 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC45A1provided by HGNC
Official Full Name: solute carrier family 45 member 1provided by HGNC
Primary source: HGNC:HGNC:17939
See related: Ensembl:ENSG00000162426 MIM:605763; AllianceGenome:HGNC:17939
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DNB5; IDDNPF; PAST-A
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]
Expression: Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (8318114..8344165)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (7849807..7876669)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (8378174..8404225)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our data strongly suggest that recessive mutations in SLC45A1 cause intellectual disability and epilepsy. SLC45A1 thus represents the second cerebral glucose transporter, in addition to GLUT1, to be involved in neurodevelopmental disability.
Title: Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder with neuropsychiatric features MedGen: C4479636 OMIM: 617532 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36035 (e-PCR)
- UniSTS:67398

SHGC-82023 (e-PCR)
- UniSTS:102993

DNB5__4762 (e-PCR)
- UniSTS:464476

SHGC-111898 (e-PCR)
- UniSTS:168811

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables galactose:proton symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucose:proton symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucose:proton symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sucrose:proton symporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in galactose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sucrose transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proton-associated sugar transporter A

Names: H+/sugar symporter; deleted in neuroblastoma 5 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034025.1 RefSeqGene

Range

5030..31081

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080397.3 → NP_001073866.3 proton-associated sugar transporter A isoform 2

Status: REVIEWED

Source sequence(s)

AL356072, BU527858, BY798065, HY013542, HY328991

Consensus CDS

CCDS30577.3

UniProtKB/Swiss-Prot

A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3

UniProtKB/TrEMBL

A0A2H2EQP0

Related

ENSP00000418096.3, ENST00000471889.7

Conserved Domains (1) summary

cd17313
Location:87 → 722

MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters
NM_001379614.1 → NP_001366543.1 proton-associated sugar transporter A isoform 1

Status: REVIEWED

Source sequence(s)

AL356072

UniProtKB/Swiss-Prot

A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3

Conserved Domains (1) summary

cl28910
Location:87 → 730

MFS; Major Facilitator Superfamily
NM_001379615.1 → NP_001366544.1 proton-associated sugar transporter A isoform 3

Status: REVIEWED

Source sequence(s)

AL356072

UniProtKB/Swiss-Prot

A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3

Conserved Domains (1) summary

cl28910
Location:469 → 699

MFS; Major Facilitator Superfamily
NM_001379616.1 → NP_001366545.1 proton-associated sugar transporter A isoform 4

Status: REVIEWED

Source sequence(s)

AL356072

UniProtKB/Swiss-Prot

A0A0A0MT80, Q5VY46, Q5VY49, Q9Y2W3

Conserved Domains (1) summary

cl28910
Location:87 → 691

MFS; Major Facilitator Superfamily
NM_001379617.1 → NP_001366546.1 proton-associated sugar transporter A isoform 5

Status: REVIEWED

Source sequence(s)

AL356072

Conserved Domains (1) summary

cl28910
Location:298 → 528

MFS; Major Facilitator Superfamily
NM_001379618.1 → NP_001366547.1 proton-associated sugar transporter A isoform 6

Status: REVIEWED

Source sequence(s)

AL356072

Related

ENST00000497660.5

Conserved Domains (1) summary

cl28910
Location:298 → 520

MFS; Major Facilitator Superfamily