SLC36A1 solute carrier family 36 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC36A1provided by HGNC
Official Full Name: solute carrier family 36 member 1provided by HGNC
Primary source: HGNC:HGNC:18761
See related: Ensembl:ENSG00000123643 MIM:606561; AllianceGenome:HGNC:18761
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: Dct1; PAT1; LYAAT1; TRAMD3
Summary: This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Broad expression in duodenum (RPKM 7.4), small intestine (RPKM 6.6) and 20 other tissues See more
Orthologs: all
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Genomic context

Location:: 5q33.1

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (151344596..151556085)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (151883565..152095073)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (150816607..150871940)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

SLC36A1-mTORC1 signaling drives acquired resistance to CDK4/6 inhibitors.
Title: SLC36A1-mTORC1 signaling drives acquired resistance to CDK4/6 inhibitors.
Increasing the PAT1 level does not readily increase the mTORC1 activity. The lysosomal PAT1 was increased by starvation and decreased by nutrient replenishment. The lysosomal PAT1 plays a negative role on the mTORC1 activity.
Title: The amino acid transporter PAT1 regulates mTORC1 in a nutrient-sensitive manner that requires its transport activity.
A mechanism through which amino acids may suppress the expression of PAT1 on lysosomes by inducing protein cleavage to remove a targeting signal.
Title: Amino acids suppress the expression of PAT1 on lysosomes via inducing the cleavage of a targeting signal.
Data indicate that the glycosylation-deficient mutant of amino acid transporter PAT1 (PAT1(3)(NQ) ) is unstable and is degraded mainly via the endoplasmic reticulum-associated degradation pathway in HEK293 cells.
Title: Glycosylation affects the stability and subcellular distribution of human PAT1 protein.
Sertraline is an apparent non-competitive inhibitor of PAT1-mediated transport.
Title: Sertraline inhibits the transport of PAT1 substrates in vivo and in vitro.
Data suggest that PAT1 in enterocytes is responsible for intestinal absorption of some of the alkaloids from areca nut (i.e., arecaidine, guvacine, isoguvacine).
Title: Transport of the areca nut alkaloid arecaidine by the human proton-coupled amino acid transporter 1 (hPAT1).
estrogen attenuates the activity of PAT1 by directly closing PAT1
Title: Estradiol inhibits the activity of proton-coupled amino acid transporter PAT1 expressed in Xenopus oocytes.
In hPAT1 expressing oocytes Gly-Tyr, Gly-Pro, and Gly-Phe inhibited currents induced by drug substances.
Title: Intestinal drug transport via the proton-coupled amino acid transporter PAT1 (SLC36A1) is inhibited by Gly-X(aa) dipeptides.
PATs function as part of an amino acid-sensing engine that drives mTORC1 activation from endosomal and lysosomal membranes
Title: Proton-assisted amino acid transporter PAT1 complexes with Rag GTPases and activates TORC1 on late endosomal and lysosomal membranes.
In human cells, SLC36A1 localized on intracellular membranes is required for amino acid-dependent mTORC1 activation and cell proliferation. SLC36A1 also has similar in vivo growth regulatory activity to fly SLC36 AAAPs when expressed in Drosophila.
Title: Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

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

D5S2195E (e-PCR)
- UniSTS:154401

SHGC-148481 (e-PCR)
- UniSTS:176417

NoName (e-PCR)
- UniSTS:480611

SGC35164 (e-PCR)
- UniSTS:40334

G59583 (e-PCR)
- UniSTS:136887

SLC36A1_8157 (e-PCR)
- UniSTS:467897

D5S1838 (e-PCR)
- UniSTS:79295

D5S1938 (e-PCR)
- UniSTS:87765

NoName (e-PCR)
- UniSTS:482029

WIAF-2087 (e-PCR)
- UniSTS:41208

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-alanine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-proline transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables alanine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables amino acid:proton symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables amino acid:proton symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glycine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables proline:proton symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables taurine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-alanine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in alanine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in glycine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in proline transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proline transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in taurine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in vacuolar membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proton-coupled amino acid transporter 1

Names: lysosomal amino acid transporter 1; proton/amino acid transporter 1; solute carrier family 36 (proton/amino acid symporter), member 1

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.

mRNA and Protein(s)

NM_001308150.2 → NP_001295079.1 proton-coupled amino acid transporter 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a shorter 3' coding region and alternate 3' UTR, compared to variant 1. The encoded isoform (b) is shorter at the C-terminus, compared to isoform a.

Source sequence(s)

AY162213, AY227111, BM787446

Consensus CDS

CCDS83035.1

UniProtKB/TrEMBL

E7EW39

Related

ENSP00000430305.1, ENST00000521925.5

Conserved Domains (1) summary

cl00456
Location:47 → 386

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001308151.2 → NP_001295080.1 proton-coupled amino acid transporter 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon and it thus differs in the 5' UTR, and it also lacks several 3' exons but contains alternate 3' exon structure, thereby differing in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK057340, AY227113

Consensus CDS

CCDS78073.1

Related

ENSP00000395640.2, ENST00000429484.6

Conserved Domains (1) summary

cl00456
Location:47 → 243

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001349740.2 → NP_001336669.1 proton-coupled amino acid transporter 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in its 5' coding region, resulting in use of an alternate start codon, and a longer 5' UTR, compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform a.

Source sequence(s)

AC034205, AL833703, AY162213, BC136438, BM787446

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:52 → 425

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_078483.4 → NP_510968.2 proton-coupled amino acid transporter 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL833703, AY162213, BC136438, BM787446

Consensus CDS

CCDS4316.1

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Related

ENSP00000243389.3, ENST00000243389.8

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

151344596..151556085

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537591.2 → XP_011535893.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047416924.1 → XP_047272880.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_011537585.1 → XP_011535887.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Related

ENSP00000428140.1, ENST00000520701.5

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_017009217.2 → XP_016864706.1 proton-coupled amino acid transporter 1 isoform X7

UniProtKB/TrEMBL

E7EW39
XM_011537581.2 → XP_011535883.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047416923.1 → XP_047272879.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_011537590.2 → XP_011535892.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011537587.4 → XP_011535889.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011537584.3 → XP_011535886.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011537592.3 → XP_011535894.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011537580.3 → XP_011535882.1 proton-coupled amino acid transporter 1 isoform X2

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:53 → 459

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_011537589.4 → XP_011535891.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047416928.1 → XP_047272884.1 proton-coupled amino acid transporter 1 isoform X8
XM_011537586.3 → XP_011535888.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_017009216.2 → XP_016864705.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:47 → 453

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_047416921.1 → XP_047272877.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_047416925.1 → XP_047272881.1 proton-coupled amino acid transporter 1 isoform X4
XM_011537595.3 → XP_011535897.3 proton-coupled amino acid transporter 1 isoform X5
XM_047416920.1 → XP_047272876.1 proton-coupled amino acid transporter 1 isoform X1
XM_047416927.1 → XP_047272883.1 proton-coupled amino acid transporter 1 isoform X6
XM_011537596.3 → XP_011535898.3 proton-coupled amino acid transporter 1 isoform X10
XM_047416929.1 → XP_047272885.1 proton-coupled amino acid transporter 1 isoform X11
XM_006714759.5 → XP_006714822.1 proton-coupled amino acid transporter 1 isoform X9

UniProtKB/TrEMBL

D2Y3F6

Conserved Domains (1) summary

cl00456
Location:2 → 375

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

151883565..152095073

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352033.1 → XP_054208008.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352036.1 → XP_054208011.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352027.1 → XP_054208002.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352030.1 → XP_054208005.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352040.1 → XP_054208015.1 proton-coupled amino acid transporter 1 isoform X7
XM_054352025.1 → XP_054208000.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352043.1 → XP_054208018.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352031.1 → XP_054208006.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352032.1 → XP_054208007.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352034.1 → XP_054208009.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352029.1 → XP_054208004.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352028.1 → XP_054208003.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352024.1 → XP_054207999.1 proton-coupled amino acid transporter 1 isoform X2
XM_054352041.1 → XP_054208016.1 proton-coupled amino acid transporter 1 isoform X8
XM_054352035.1 → XP_054208010.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352026.1 → XP_054208001.1 proton-coupled amino acid transporter 1 isoform X3

UniProtKB/Swiss-Prot

C9JI34, Q1LZ56, Q7Z2H8, Q7Z7C0, Q86YK4, Q96M74
XM_054352037.1 → XP_054208012.1 proton-coupled amino acid transporter 1 isoform X4
XM_054352038.1 → XP_054208013.1 proton-coupled amino acid transporter 1 isoform X5
XM_054352023.1 → XP_054207998.1 proton-coupled amino acid transporter 1 isoform X1
XM_054352039.1 → XP_054208014.1 proton-coupled amino acid transporter 1 isoform X6
XM_054352044.1 → XP_054208019.1 proton-coupled amino acid transporter 1 isoform X10
XM_054352045.1 → XP_054208020.1 proton-coupled amino acid transporter 1 isoform X11
XM_054352042.1 → XP_054208017.1 proton-coupled amino acid transporter 1 isoform X9