SLC7A10 solute carrier family 7 member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A10provided by HGNC
Official Full Name: solute carrier family 7 member 10provided by HGNC
Primary source: HGNC:HGNC:11058
See related: Ensembl:ENSG00000130876 MIM:607959; AllianceGenome:HGNC:11058
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: ASC1; asc-1; HASC-1
Summary: SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in fat (RPKM 24.7), ovary (RPKM 10.1) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (33208664..33225850, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (35727305..35744598, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33699570..33716756, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.
Title: Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.
Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism.
Title: Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism.
ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation.
Title: ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation.
NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y2R Activation in Breast Cancer Cells.
Title: NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y(2)R Activation in Breast Cancer Cells.
Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism.
Title: Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism.
results identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation.
Title: ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
The amino acid transporter ASC-1 is a white adipocyte-specific cell surface protein.
Title: ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes.
ASC1 is a target for ufmylation and that UFBP1 is an essential component for ASC1 ufmylation.
Title: Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development.
In conclusion, SLC7A10 had no apparent degree of association with schizophrenia as a candidate susceptibility gene in the disease per se.
Title: No genetic association between SLC7A10 and Japanese patients with schizophrenia.
The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids
Title: The amino acid transporter asc-1 is not involved in cystinuria.

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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
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-52396 (e-PCR)
- UniSTS:43612

D19S392 (e-PCR)
- UniSTS:16808

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-serine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
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 D-alanine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in D-serine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-alpha-amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in L-serine transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transport	TAS Traceable Author Statement more info	PubMed
involved_in glycine transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synaptic transmission, glycinergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: asc-type amino acid transporter 1

Names: solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10; solute carrier family 7, (cationic amino acid transporter, y+ system) member 10; solute carrier family 7, (neutral amino acid transporter, y+ system) member 10

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)

NM_019849.3 → NP_062823.1 asc-type amino acid transporter 1

See identical proteins and their annotated locations for NP_062823.1

Status: VALIDATED

Source sequence(s)

AB037670, BC022457

Consensus CDS

CCDS12431.1

UniProtKB/Swiss-Prot

B2RE84, Q9NS82

Related

ENSP00000253188.2, ENST00000253188.8

Conserved Domains (1) summary

cl26159
Location:15 → 498

AA_permease_2; Amino acid permease

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

33208664..33225850 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451610.2 → XP_024307378.1 asc-type amino acid transporter 1 isoform X3

Conserved Domains (2) summary

cl26159
Location:97 → 471

AA_permease_2; Amino acid permease

cl26386
Location:2 → 84

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
XM_011527120.2 → XP_011525422.1 asc-type amino acid transporter 1 isoform X2

Conserved Domains (1) summary

TIGR00911
Location:97 → 608

2A0308; L-type amino acid transporter
XM_006723284.3 → XP_006723347.1 asc-type amino acid transporter 1 isoform X4

Conserved Domains (1) summary

TIGR00911
Location:15 → 419

2A0308; L-type amino acid transporter
XM_011527119.2 → XP_011525421.1 asc-type amino acid transporter 1 isoform X1

Conserved Domains (1) summary

TIGR00911
Location:15 → 635

2A0308; L-type amino acid transporter
XM_047439101.1 → XP_047295057.1 asc-type amino acid transporter 1 isoform X5

UniProtKB/TrEMBL

K7EK24

Related

ENSP00000465421.1, ENST00000590036.5

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

35727305..35744598 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321472.1 → XP_054177447.1 asc-type amino acid transporter 1 isoform X3
XM_054321471.1 → XP_054177446.1 asc-type amino acid transporter 1 isoform X2
XM_054321473.1 → XP_054177448.1 asc-type amino acid transporter 1 isoform X4
XM_054321470.1 → XP_054177445.1 asc-type amino acid transporter 1 isoform X1
XM_054321474.1 → XP_054177449.1 asc-type amino acid transporter 1 isoform X5

UniProtKB/TrEMBL

K7EK24