SLC7A10 (solute carrier family 7 member 10)

Gene

• Entrez ID: 56301
• Gene name: Solute carrier family 7 member 10
• Gene symbol: SLC7A10
• Synonyms (NCBI Gene): ASC1, HASC-1, asc-1
• Chromosome: 19
• Chromosome location: 19q13.11
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1366731	hsa-miR-1245b-5p	CLIP-seq
MIRT1366732	hsa-miR-3142	CLIP-seq
MIRT1366733	hsa-miR-621	CLIP-seq
MIRT1366734	hsa-miR-873	CLIP-seq
MIRT2108798	hsa-miR-4436b-3p	CLIP-seq
MIRT2108799	hsa-miR-4690-5p	CLIP-seq
MIRT1366733	hsa-miR-621	CLIP-seq
MIRT1366734	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	10863037
GO:0005886	Component	Plasma membrane	TAS	10734121
GO:0006865	Process	Amino acid transport	IEA
GO:0006865	Process	Amino acid transport	TAS	10734121
GO:0015101	Function	Organic cation transmembrane transporter activity	IEA
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IBA
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IDA	10863037
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IEA
GO:0015179	Function	L-amino acid transmembrane transporter activity	IBA
GO:0015179	Function	L-amino acid transmembrane transporter activity	IEA
GO:0015194	Function	L-serine transmembrane transporter activity	TAS	10863037
GO:0015804	Process	Neutral amino acid transport	IDA	10863037
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015816	Process	Glycine transport	IEA
GO:0015825	Process	L-serine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10734121
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0042941	Process	D-alanine transmembrane transport	IBA
GO:0042941	Process	D-alanine transmembrane transport	IEA
GO:0042942	Process	D-serine transmembrane transport	IBA
GO:0042942	Process	D-serine transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060094	Process	Positive regulation of synaptic transmission, glycinergic	IEA
GO:1902475	Process	L-alpha-amino acid transmembrane transport	IEA
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA

Other IDs

• MIM: 607959
• HGNC: 11058
• e!Ensembl: ENSG00000130876

Protein

• UniProt ID: Q9NS82
• Protein name: Asc-type amino acid transporter 1 (Asc-1) (Solute carrier family 7 member 10)
• Protein function: Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane. Preferentially mediates exchange transport, but can also operate via facilitated diffusion (
• PDB: 8QEY, 8WNS, 8WNT, 8WNY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13520	AA_permease_2	40 → 468	Amino acid permease	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle. {ECO:0000269|PubMed:10863037}.
• Sequence:

  MAGHTQQPSGRGNPRPAPSPSPVPGTVPGASERVALKKEIGLLSACTIIIGNIIGSGIFI
  SPKGVLEHSGSVGLALFVWVLGGGVTALGSLCYAELGVAIPKSGGDYAYVTEIFGGLAGF
  LLLWSAVLIMYPTSLAVISMTFSNYVLQPVFPNCIPPTTASRVLSMACLMLLTWVNSSSV
  RWATRIQDMFTGGKLLALSLIIGVGLLQIFQGHFEELRPSNAFAFWMTPSVGHLALAFLQ
  GSFAFSGWNFLNYVTEEMVDARKNLPRAIFISIPLVTFVYTFTNIAYFTAMSPQELLSSN
  AVAVTFGEKLLGYFSWVMPVSVALSTFGGINGYLFTYSRLCFSGAREGHLPSLLAMIHVR
  HCTPIPALLVCCGATAVIMLVGDTYTLINYVSFINYLCYGVTILGLLLLRWRRPALHRPI
  KVNLLIPVAYLVFWAFLLVFSFISEPMVCGVGVIIILTGVPIFFLGVFWRSKPKCVHRLT
  ESMTHWGQELCFVVYPQDAPEEEENGPCPPSLLPATDKPSKPQ

• Sequence length: 523

Pathways

Reactome:

Basigin interactions
Amino acid transport across the plasma membrane

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Diseases Metabolic	Brain disease	Pubtator	38203703	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25219498, 9597010		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	31794073		★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	11509015, 15458438		★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	23178314		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31306660		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30398641	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25219498		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	30398641	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	30289745		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27008887, 31794073		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25219498		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30398641	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28218388		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15292941		★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	23178314	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18400471, 21888942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18400471, 21888942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	39392394	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30398641, 31794073		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	27759100		★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	21888942		★☆☆☆☆ Found in Text Mining only