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SLC38A11 solute carrier family 38 member 11 [ Homo sapiens (human) ]

Gene ID: 151258, updated on 11-Apr-2024

Summary

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Official Symbol
SLC38A11provided by HGNC
Official Full Name
solute carrier family 38 member 11provided by HGNC
Primary source
HGNC:HGNC:26836
See related
Ensembl:ENSG00000169507 MIM:616526; AllianceGenome:HGNC:26836
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
AVT2
Summary
Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 4.2), stomach (RPKM 2.0) and 14 other tissues See more
Orthologs
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Genomic context

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See SLC38A11 in Genome Data Viewer
Location:
2q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (164894354..164955525, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165351705..165412860, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165750864..165812035, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cordon-bleu WH2 repeat protein like 1 Neighboring gene uncharacterized LOC101929633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12065 Neighboring gene RNA, 5S ribosomal pseudogene 110 Neighboring gene NANOG hESC enhancer GRCh37_chr2:165769454-165769970 Neighboring gene RNA, 5S ribosomal pseudogene 111 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:165840567-165840754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165851409-165851909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165926349-165926850 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:165926851-165927350 Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12066 Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3

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. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. Schiöth HB, et al. Mol Aspects Med, 2013 Apr-Jun. PMID 23506890
  2. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39822, MGC150450

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-alpha-amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
putative sodium-coupled neutral amino acid transporter 11

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_001199148.2 → NP_001186077.1  putative sodium-coupled neutral amino acid transporter 11 isoform 1

    See identical proteins and their annotated locations for NP_001186077.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variant 4, encodes isoform 1.
    Source sequence(s)
    AC019197
    Consensus CDS
    CCDS56142.1
    UniProtKB/Swiss-Prot
    B4DF99, Q08AI6, Q8N887
    UniProtKB/TrEMBL
    B8ZZ86
    Related
    ENSP00000386272.3, ENST00000409149.7
    Conserved Domains (1) summary
    cl00456
    Location:1 → 362
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. NM_001351537.2 → NP_001338466.1  putative sodium-coupled neutral amino acid transporter 11 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC019197
    Consensus CDS
    CCDS92885.1
    UniProtKB/TrEMBL
    A0A8I5QKK7, B8ZZ86
    Related
    ENSP00000508649.1, ENST00000685975.1
    Conserved Domains (1) summary
    cl00456
    Location:37 → 418
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. NM_001351538.2 → NP_001338467.1  putative sodium-coupled neutral amino acid transporter 11 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AC019197
    Consensus CDS
    CCDS56142.1
    UniProtKB/Swiss-Prot
    B4DF99, Q08AI6, Q8N887
    UniProtKB/TrEMBL
    B8ZZ86
    Related
    ENSP00000386774.1, ENST00000409662.5
    Conserved Domains (1) summary
    cl00456
    Location:1 → 362
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  4. NM_001351539.2 → NP_001338468.1  putative sodium-coupled neutral amino acid transporter 11 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC019197
    Conserved Domains (1) summary
    cl00456
    Location:1 → 296
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  5. NM_001351540.2 → NP_001338469.1  putative sodium-coupled neutral amino acid transporter 11 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC019197
    Conserved Domains (1) summary
    cl00456
    Location:24 → 223
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  6. NM_173512.3 → NP_775783.1  putative sodium-coupled neutral amino acid transporter 11 isoform 2

    See identical proteins and their annotated locations for NP_775783.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC019197
    Consensus CDS
    CCDS2224.1
    UniProtKB/TrEMBL
    B8ZZ86
    Related
    ENSP00000306178.4, ENST00000303735.8
    Conserved Domains (1) summary
    cl00456
    Location:1 → 340
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    164894354..164955525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    165351705..165412860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001394061.1: Suppressed sequence

    Description
    NM_001394061.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08AI6.1 GenPept UniProtKB/Swiss-Prot:Q08AI6

Gene LinkOut

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

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