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SLC46A1 solute carrier family 46 member 1 [ Homo sapiens (human) ]

Gene ID: 113235, updated on 24-Nov-2020

Summary

Official Symbol
SLC46A1provided by HGNC
Official Full Name
solute carrier family 46 member 1provided by HGNC
Primary source
HGNC:HGNC:30521
See related
Ensembl:ENSG00000076351 MIM:611672
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
G21; HCP1; PCFT
Summary
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in duodenum (RPKM 45.1), small intestine (RPKM 21.0) and 22 other tissues See more
Orthologs

Genomic context

See SLC46A1 in Genome Data Viewer
Location:
17q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28394642..28406630, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26721661..26733230, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SEBOX homeobox Neighboring gene vitronectin Neighboring gene sterile alpha and TIR motif containing 1 Neighboring gene H3 histone pseudogene 41 Neighboring gene RAP1A, member of RAS oncogene family pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital defect of folate absorption Compare labs
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of solute carrier family 46 (folate transporter), member 1 (SLC46A1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9564, FLJ39875

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
folate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
folic acid metabolic process TAS
Traceable Author Statement
more info
 
folic acid transport IDA
Inferred from Direct Assay
more info
PubMed 
folic acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
heme transport IEA
Inferred from Electronic Annotation
more info
 
intestinal folate absorption IC
Inferred by Curator
more info
PubMed 
methotrexate transport IDA
Inferred from Direct Assay
more info
PubMed 
methotrexate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
proton transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface HDA PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
proton-coupled folate transporter
Names
heme carrier protein 1
solute carrier family 46 (folate transporter), member 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_013306.1 RefSeqGene

    Range
    4999..16567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_183

mRNA and Protein(s)

  1. NM_001242366.3NP_001229295.1  proton-coupled folate transporter isoform 2

    See identical proteins and their annotated locations for NP_001229295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as HCP-1B) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment (containing one of the transmembrane domains) compared to isoform 1. This isoform was shown to have a different subcellular localization compared to the longer isoform 1 (PMID:17947394).
    Source sequence(s)
    AK074161, BC010691, BC022100, BC065365, DA013269, DA188147, DA436636, DA527125
    Consensus CDS
    CCDS74019.1
    UniProtKB/Swiss-Prot
    Q96NT5
    UniProtKB/TrEMBL
    A0A024QZ44
    Related
    ENSP00000483652.1, ENST00000618626.1
    Conserved Domains (2) summary
    cd06174
    Location:73230
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:94291
    MFS_1; Major Facilitator Superfamily
  2. NM_080669.6NP_542400.2  proton-coupled folate transporter isoform 1

    See identical proteins and their annotated locations for NP_542400.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as HCP-1A) encodes the longer protein (isoform 1).
    Source sequence(s)
    AK054669, AK074161, BC022100, BC065365, DA013269, DA188147, DA436636, DA527125, DB121588
    Consensus CDS
    CCDS74020.1
    UniProtKB/Swiss-Prot
    Q96NT5
    UniProtKB/TrEMBL
    A0A024QZ15
    Related
    ENSP00000480703.1, ENST00000612814.5
    Conserved Domains (2) summary
    cd06174
    Location:73443
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:94407
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    28394642..28406630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024110.1XP_016879599.1  proton-coupled folate transporter isoform X2

  2. XM_005277786.3XP_005277843.1  proton-coupled folate transporter isoform X1

    Conserved Domains (2) summary
    cd06174
    Location:73230
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:94291
    MFS_1; Major Facilitator Superfamily
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