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

Gene ID: 120103, updated on 23-Nov-2023

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
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Genomic context

See SLC36A4 in Genome Data Viewer
Location:
11q21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93144174..93197991, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93066962..93120802, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (92877340..92931157, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:92703365-92703864 Neighboring gene melatonin receptor 1B Neighboring gene Sharpr-MPRA regulatory region 15019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:92764815-92765672 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:92787513-92788712 Neighboring gene NANOG hESC enhancer GRCh37_chr11:92806893-92807563 Neighboring gene ribosomal protein L26 pseudogene 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:92850128-92850670 Neighboring gene Sharpr-MPRA regulatory region 7617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3834 Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93063547-93064048 Neighboring gene uncharacterized LOC124902734 Neighboring gene deuterosome assembly protein 1

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

Phenotypes

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

General gene information

Markers

Clone Names

  • FLJ36579, FLJ38932, FLJ39593

Gene Ontology Provided by GOA

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

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)

  1. NM_001286139.2NP_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:15341
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_152313.4NP_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:58476
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    93144174..93197991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426350.1XP_047282306.1  neutral amino acid uniporter 4 isoform X1

  2. XM_047426351.1XP_047282307.1  neutral amino acid uniporter 4 isoform X2

  3. XM_047426352.1XP_047282308.1  neutral amino acid uniporter 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    93066962..93120802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367638.1XP_054223613.1  neutral amino acid uniporter 4 isoform X1

  2. XM_054367639.1XP_054223614.1  neutral amino acid uniporter 4 isoform X2

  3. XM_054367640.1XP_054223615.1  neutral amino acid uniporter 4 isoform X3