SLC46A1

GENERAL INFORMATION

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Gene name

SLC46A1

Gene description

Solute carrier family 46 (folate transporter), member 1

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Tissue enhanced (adrenal gland)

Protein evidence

Evidence at protein level

Protein localization

The gastric mucosa, basal cells in ductus seminiferus and occasional airway epithelial cells showed moderate cytoplasmic positivity. Weak cytoplasmic positivity was observed in intestinal glands while most remaining cells were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB011614
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (adrenal gland)

Organ

Expression



GENE INFORMATION

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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 BROWSER

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ENST00000581516
 
ENST00000582735
 
ENST00000584426
 
ENST00000584995
 
ENST00000612814
 
ENST00000618626
 
 
 
 


PROTEIN INFORMATION

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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