SLC36A4 solute carrier family 36 member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC36A4provided by HGNC
Official Full Name: solute carrier family 36 member 4provided by HGNC
Primary source: HGNC:HGNC:19660
See related: Ensembl:ENSG00000180773 MIM:613760; AllianceGenome:HGNC:19660
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAT4
Summary: SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]
Expression: Ubiquitous expression in brain (RPKM 3.7), bone marrow (RPKM 3.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (93144174..93197991, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (93066962..93120802, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (92877340..92931157, complement)

Chromosome 11 - NC_000011.10 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?

Data predict that colorectal cancer cells with high PAT4 expression will be more resistant to depletion of serine and glutamine, allowing them to survive and outgrow neighbouring normal and tumorigenic cells.
Title: PAT4 levels control amino-acid sensitivity of rapamycin-resistant mTORC1 from the Golgi and affect clinical outcome in colorectal cancer.
SLC36A4 has a similar in vivo growth regulatory activity to fly SLC36 family members when expressed in Drosophila and is also required for amino acid-dependent mTORC1 activation, and mTORC1-regulated proliferation in human cells.
Title: Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation.
SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes.
Title: SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes.

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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

EBI GWAS Catalog

Description
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

General gene information

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Markers

WI-18662 (e-PCR)
- UniSTS:81206

RH66340 (e-PCR)
- UniSTS:59579

HSC2CA042 (e-PCR)
- UniSTS:36300

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-alanine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-proline transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables L-proline transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-proline transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-tryptophan transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables L-tryptophan transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-alanine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-alanine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-proline import across plasma membrane	TAS Traceable Author Statement more info
involved_in L-tryptophan transmembrane transport	TAS Traceable Author Statement more info
involved_in amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proline transport	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
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: neutral amino acid uniporter 4

Names: proton-coupled amino acid transporter 4; solute carrier family 36 (proton/amino acid symporter), member 4

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_001286139.2 → NP_001273068.1 neutral amino acid uniporter 4 isoform 2

See identical proteins and their annotated locations for NP_001273068.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, contains multiple differences in the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK096251, AP003072, AY162216

Consensus CDS

CCDS66202.1

UniProtKB/Swiss-Prot

Q6YBV0

Related

ENSP00000436570.1, ENST00000529184.5

Conserved Domains (1) summary

cl00456
Location:15 → 341

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_152313.4 → NP_689526.2 neutral amino acid uniporter 4 isoform 1

See identical proteins and their annotated locations for NP_689526.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AP003072, AY162216, HY170772

Consensus CDS

CCDS8291.1

UniProtKB/Swiss-Prot

Q6YBV0, Q86X30, Q8IVM5, Q8N8S6

Related

ENSP00000317382.4, ENST00000326402.9

Conserved Domains (1) summary

cl00456
Location:58 → 476

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