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    SLC43A1 solute carrier family 43 member 1 [ Homo sapiens (human) ]

    Gene ID: 8501, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC43A1provided by HGNC
    Official Full Name
    solute carrier family 43 member 1provided by HGNC
    Primary source
    HGNC:HGNC:9225
    See related
    Ensembl:ENSG00000149150 MIM:603733; AllianceGenome:HGNC:9225
    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
    LAT3; PB39; POV1; R00504
    Summary
    SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in pancreas (RPKM 25.5), liver (RPKM 24.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC43A1 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57484534..57515702, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57434741..57465880, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57252007..57283175, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57229713-57230251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57231341-57231845 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57231895-57232490 Neighboring gene reticulon 4 receptor like 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57235875-57236324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57241779-57242279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57243453-57244281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3350 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:57256964-57257464 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:57260708-57261907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57267535-57268310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57268311-57269084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4719 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:57293175-57293772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4720 Neighboring gene RNA, 7SL, cytoplasmic 605, pseudogene Neighboring gene translocase of inner mitochondrial membrane 10

    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
    • 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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    Related articles in PubMed

    1. Encephalomalacia unrelated to vascular occlusion. Shuangshoti S, et al. J Med Assoc Thai, 1976 Sep. PMID 972295
    2. Identification of a novel transcript up-regulated in a clinically aggressive prostate carcinoma. Chuaqui RF, et al. Urology, 1997 Aug. PMID 9255310
    3. cDNA sequencing and analysis of POV1 (PB39): a novel gene up-regulated in prostate cancer. Cole KA, et al. Genomics, 1998 Jul 15. PMID 9722952
    4. New insights into testicular germ cell tumorigenesis from gene expression profiling. Skotheim RI, et al. Cancer Res, 2002 Apr 15. PMID 11956097
    5. Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters. Babu E, et al. J Biol Chem, 2003 Oct 31. PMID 12930836

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LAT3 is a transporter subserving system L2 and should denote a new family of organic solute transporters
      Title: Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-isoleucine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-isoleucine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables L-leucine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-leucine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables L-valine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-valine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables neutral L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables neutral L-amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-leucine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in L-valine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-valine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in isoleucine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in isoleucine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of L-leucine import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neutral amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neutral amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in podocyte foot IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large neutral amino acids transporter small subunit 3
    Names
    L-type amino acid transporter 3
    prostate cancer overexpressed gene 1 protein
    solute carrier family 43 (amino acid system L transporter), member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001198810.2 → NP_001185739.1  large neutral amino acids transporter small subunit 3

      See identical proteins and their annotated locations for NP_001185739.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP002893, BC001639, BQ029981
      Consensus CDS
      CCDS7958.1
      UniProtKB/Swiss-Prot
      O75387
      Related
      ENSP00000435673.1, ENST00000528450.5
      Conserved Domains (1) summary
      cd06174
      Location:75 → 219
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    2. NM_003627.6 → NP_003618.1  large neutral amino acids transporter small subunit 3

      See identical proteins and their annotated locations for NP_003618.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB103033, BM147085, BQ029981
      Consensus CDS
      CCDS7958.1
      UniProtKB/Swiss-Prot
      O75387
      Related
      ENSP00000278426.3, ENST00000278426.8
      Conserved Domains (1) summary
      cd06174
      Location:75 → 219
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    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
      57484534..57515702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018452.2 → XP_016873941.1  large neutral amino acids transporter small subunit 3 isoform X3

    2. XM_011545320.4 → XP_011543622.1  large neutral amino acids transporter small subunit 3 isoform X2

      Conserved Domains (1) summary
      cd06174
      Location:91 → 175
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    3. XM_005274358.6 → XP_005274415.1  large neutral amino acids transporter small subunit 3 isoform X1

      See identical proteins and their annotated locations for XP_005274415.1

      Conserved Domains (1) summary
      cd06174
      Location:91 → 235
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    4. XM_047427777.1 → XP_047283733.1  large neutral amino acids transporter small subunit 3 isoform X3

    5. XM_024448727.2 → XP_024304495.1  large neutral amino acids transporter small subunit 3 isoform X4

      UniProtKB/TrEMBL
      B3KNL1
      Conserved Domains (1) summary
      cl26868
      Location:6 → 160
      2A0111; oxalate/formate antiporter family transporter

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57434741..57465880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370303.1 → XP_054226278.1  large neutral amino acids transporter small subunit 3 isoform X3

    2. XM_054370302.1 → XP_054226277.1  large neutral amino acids transporter small subunit 3 isoform X2

    3. XM_054370301.1 → XP_054226276.1  large neutral amino acids transporter small subunit 3 isoform X1

    4. XM_054370304.1 → XP_054226279.1  large neutral amino acids transporter small subunit 3 isoform X3

    5. XM_054370305.1 → XP_054226280.1  large neutral amino acids transporter small subunit 3 isoform X4

      UniProtKB/TrEMBL
      B3KNL1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75387.1 GenPept UniProtKB/Swiss-Prot:O75387

    Gene LinkOut

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