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

Gene ID: 8501, updated on 27-Nov-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
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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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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

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