SLC46A1

GENE INFORMATION

? »

Gene name

SLC46A1 (HGNC Symbol)

Synonyms

HCP1, MGC9564, PCFT

Description

Solute carrier family 46 (folate transporter), member 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

17

Cytoband

q11.2

Chromosome location (bp)

28394756 - 28407197

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000076351 (version 78.38)

Entrez gene

113235

UniProt

Q96NT5 (UniProt - Evidence at protein level)

neXtProt

NX_Q96NT5

Antibodypedia

SLC46A1 antibodies
 

PROTEIN VIEW

? »
 
 
 
SLC46A1-001
 
SLC46A1-002
 
SLC46A1-005
 
SLC46A1-006
 
SLC46A1-008
 
SLC46A1-011
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC46A1-001 ENSP00000480703
ENST00000612814
Q96NT5
Show all »
Show » Show » 459 49.8 No >9
SLC46A1-002 ENSP00000483652
ENST00000618626
Q96NT5
Show all »
Show » Show » 431 46.6 No >9
SLC46A1-005 ENSP00000462942
ENST00000581516
J3KTE6
Show all »
Show » 32 3.5 No 1
SLC46A1-006 ENSP00000464190
ENST00000584995
J3QRF7
Show all »
Show » Show » 250 27.3 No 6
SLC46A1-008 ENSP00000463339
ENST00000582735
Show » 124 13.2 No 2
SLC46A1-011 ENSP00000467416
ENST00000584426
K7EPJ7
Show all »
Show » Show » 128 13.4 No 3