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

    Gene ID: 120103, updated on 2-Nov-2024

    Summary

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    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

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    See SLC36A4 in Genome Data Viewer
    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_000011.10Genomic 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. 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.
    2. 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.
    3. 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.
    Submit: New GeneRIF Correction

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36579, FLJ38932, FLJ39593

    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)

    1. 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

    2. 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

    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

    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_047426350.1 → XP_047282306.1  neutral amino acid uniporter 4 isoform X1

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

    3. XM_047426352.1 → XP_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_054367638.1 → XP_054223613.1  neutral amino acid uniporter 4 isoform X1

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6YBV0.1 GenPept UniProtKB/Swiss-Prot:Q6YBV0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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