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SLC6A14 solute carrier family 6 member 14 [ Homo sapiens (human) ]

Gene ID: 11254, updated on 28-Oct-2024

Summary

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Official Symbol
SLC6A14provided by HGNC
Official Full Name
solute carrier family 6 member 14provided by HGNC
Primary source
HGNC:HGNC:11047
See related
Ensembl:ENSG00000268104 MIM:300444; AllianceGenome:HGNC:11047
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BMIQ11
Summary
This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]
Expression
Biased expression in lung (RPKM 8.9), salivary gland (RPKM 4.7) and 7 other tissues See more
Orthologs
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Genomic context

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See SLC6A14 in Genome Data Viewer
Location:
Xq23
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (116436606..116461458)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (114846229..114871074)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (115567774..115592625)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene angiotensin II receptor type 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:115376237-115376764 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:115403048-115404247 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:115462947-115463872 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:115465875-115466567 Neighboring gene NANOG hESC enhancer GRCh37_chrX:115467427-115467937 Neighboring gene NANOG hESC enhancer GRCh37_chrX:115506523-115507090 Neighboring gene RNA, U6 small nuclear 154, pseudogene Neighboring gene cancer/testis antigen 83 Neighboring gene SLC6A14 pseudogene 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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Related articles in PubMed

  1. Machine learning identifies SLC6A14 as a novel biomarker promoting the proliferation and metastasis of pancreatic cancer via Wnt/β-catenin signaling. Dang C, et al. Sci Rep, 2024 Jan 24. PMID 38267509, Free PMC Article
  2. Upregulation of the amino acid transporter ATB0,+ (SLC6A14) in colorectal cancer and metastasis in humans. Gupta N, et al. Biochim Biophys Acta, 2005 Jun 30. PMID 15905073
  3. Human solute carrier SLC6A14 is the beta-alanine carrier. Anderson CM, et al. J Physiol, 2008 Sep 1. PMID 18599538, Free PMC Article
  4. SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis. Gu Q, et al. World J Gastroenterol, 2024 Jan 21. PMID 38314135, Free PMC Article
  5. The SLC6A14 gene shows evidence of association with obesity. Suviolahti E, et al. J Clin Invest, 2003 Dec. PMID 14660752, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis.
    Title: SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis.
  2. Machine learning identifies SLC6A14 as a novel biomarker promoting the proliferation and metastasis of pancreatic cancer via Wnt/beta-catenin signaling.
    Title: Machine learning identifies SLC6A14 as a novel biomarker promoting the proliferation and metastasis of pancreatic cancer via Wnt/β-catenin signaling.
  3. SLC6A14 facilitates epithelial cell ferroptosis via the C/EBPbeta-PAK6 axis in ulcerative colitis.
    Title: SLC6A14 facilitates epithelial cell ferroptosis via the C/EBPβ-PAK6 axis in ulcerative colitis.
  4. SLC6A14 Depletion Contributes to Amino Acid Starvation to Suppress EMT-Induced Metastasis in Gastric Cancer by Perturbing the PI3K/AKT/mTORC1 Pathway.
    Title: SLC6A14 Depletion Contributes to Amino Acid Starvation to Suppress EMT-Induced Metastasis in Gastric Cancer by Perturbing the PI3K/AKT/mTORC1 Pathway.
  5. A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus.
    Title: A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus.
  6. [SLC6A14, a modifier gene in cystic fibrosis].", trans "SLC6A14, un gene modificateur dans la mucoviscidose.
    Title: [SLC6A14, a modifier gene in cystic fibrosis].
  7. Reprogramming of Amino Acid Transporters to Support Aspartate and Glutamate Dependency Sustains Endocrine Resistance in Breast Cancer.
    Title: Reprogramming of Amino Acid Transporters to Support Aspartate and Glutamate Dependency Sustains Endocrine Resistance in Breast Cancer.
  8. New aspects of the human SLC6A14 structure-function relationship.
    Title: SLC6A14, a Pivotal Actor on Cancer Stage: When Function Meets Structure.
  9. Together, these findings suggest that SLC6A14 activity plays a role in the modification of the initial stages of airway infection by altering the level of l-arginine in the airway surface liquid, which in turn affects the attachment of Pseudomonas aeruginosa.
    Title: SLC6A14 Is a Genetic Modifier of Cystic Fibrosis That Regulates Pseudomonas aeruginosa Attachment to Human Bronchial Epithelial Cells.
  10. SLC6A14 was up-regulated several fold in patient-derived pancreatic cancer xenografts, primary tumour tissues and pancreatic cancer cells lines compared to normal pancreatic tissue or normal pancreatic epithelial cells
    Title: Amino acid transporter SLC6A14 is a novel and effective drug target for pancreatic cancer.
Submit: New GeneRIF Correction See all GeneRIFs (21)

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)

Genotypes

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 (R)-carnitine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables (R)-carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables (R)-carnitine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables alanine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alanine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables aromatic amino acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-alanine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables beta-alanine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables branched-chain amino acid:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables branched-chain amino acid:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables neutral, basic amino acid:sodium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables neutral, basic amino acid:sodium:chloride symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in (R)-carnitine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in (R)-carnitine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in (R)-carnitine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in alanine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amino acid import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amino acid transmembrane transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in amino acid transport TAS
Traceable Author Statement
more info
  
involved_in aromatic amino acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in beta-alanine transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in beta-alanine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in branched-chain amino acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transport IEA
Inferred from Electronic Annotation
more info
  
involved_in glycine import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to toxic substance IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in vesicle HDA PubMed 

General protein information

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Preferred Names
sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
Names
amino acid transporter ATB0+
amino acid transporter B0+
solute carrier family 6 (amino acid transporter), member 14
solute carrier family 6 (neurotransmitter transporter), member 14

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.

Genomic

  1. NG_021305.2 RefSeqGene

    Range
    5020..29872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007231.5 → NP_009162.1  sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)

    See identical proteins and their annotated locations for NP_009162.1

    Status: REVIEWED

    Source sequence(s)
    AC241580, AF151978, AK313390, BC093710, BU686768, DB207722
    Consensus CDS
    CCDS14570.1
    UniProtKB/Swiss-Prot
    Q5H942, Q9UN76
    UniProtKB/TrEMBL
    B2R8J1
    Related
    ENSP00000470801.1, ENST00000598581.3
    Conserved Domains (1) summary
    cd11501
    Location:36 → 641
    SLC6sbd_ATB0; Na(+)- and Cl(-)-dependent beta-alanine transporter ATB0+; 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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    116436606..116461458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    114846229..114871074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UN76.1 GenPept UniProtKB/Swiss-Prot:Q9UN76

Gene LinkOut

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