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

Summary

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis.
Title: SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis.
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.
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.
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.
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.
[SLC6A14, a modifier gene in cystic fibrosis].", trans "SLC6A14, un gene modificateur dans la mucoviscidose.
Title: [SLC6A14, a modifier gene in cystic fibrosis].
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.
New aspects of the human SLC6A14 structure-function relationship.
Title: SLC6A14, a Pivotal Actor on Cancer Stage: When Function Meets Structure.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SLC6A14 (e-PCR)
- UniSTS:498202

RH93168 (e-PCR)
- UniSTS:92232

DXS6804 (e-PCR), detects polymorphism
- UniSTS:31318

SLC6A14_411.2 (e-PCR)
- UniSTS:277748

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 more info	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 more info	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

NG_021305.2 RefSeqGene

Range

5020..29872

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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