SLC51A (solute carrier family 51 member A)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 200931
• Gene name: Solute carrier family 51 member A
• Gene symbol: SLC51A
• Synonyms (NCBI Gene): OSTA, OSTalpha, PFIC6, SLC51A1
• Chromosome: 3
• Chromosome location: 3q29

Gene ontology (GO) Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16713569, 32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12719432
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0015125	Function	Bile acid transmembrane transporter activity	IEA
GO:0015721	Process	Bile acid and bile salt transport	IBA
GO:0015721	Process	Bile acid and bile salt transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	IDA	16317684
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0032782	Process	Bile acid secretion	IPI	16317684
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 612084
• HGNC: 29955
• e!Ensembl: ENSG00000163959

Protein

• UniProt ID: Q86UW1
• Protein name: Organic solute transporter subunit alpha (OST-alpha) (Solute carrier family 51 subunit alpha)
• Protein function: Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684). Efficiently transports the major spec
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03619	Solute_trans_a	53 → 322	Organic solute transporter Ostalpha	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with a high expression in ileum. Expressed in testis, colon, liver, small intestine, kidney, ovary and adrenal gland; and at low levels in heart, lung, brain, pituitary, thyroid gland, uterus, prostate, mammary gland a
• Sequence:

  MEPGRTQIKLDPRYTADLLEVLKTNYGIPSACFSQPPTAAQLLRALGPVELALTSILTLL
  ALGSIAIFLEDAVYLYKNTLCPIKRRTLLWKSSAPTVVSVLCCFGLWIPRSLVLVEMTIT
  SFYAVCFYLLMLVMVEGFGGKEAVLRTLRDTPMMVHTGPCCCCCPCCPRLLLTRKKLQLL
  MLGPFQYAFLKITLTLVGLFLVPDGIYDPADISEGSTALWINTFLGVSTLLALWTLGIIS
  RQARLHLGEQNMGAKFALFQVLLILTALQPSIFSVLANGGQIACSPPYSSKTRSQVMNCH
  LLILETFLMTVLTRMYYRRKDHKVGYETFSSPDLDLNLKA

• Sequence length: 340

Pathways

KEGG Pathway:

Bile secretion

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cholestasis, progressive familial intrahepatic, 6	Pathogenic	rs1388285232	RCV001563712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BILIARY CIRRHOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	16423920, 22461449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	29382564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES COMPLICATIONS	—	CTD	29382564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	16423920	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC51A-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	16423920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	16423920		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	18469300	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	19995447	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	LHGDN	16423920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	16423920, 22461449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	24333169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	25798860	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	29420067, 34599072	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	37697751	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	29382564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	33031748	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	18469300	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	29420067	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860, 29420067	Associate	★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29420067		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28958825		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	16423920		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29420067		★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	16423920		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SLC51B 7 shared diseasesBiliary cirrhosis, Cholelithiasis, Liver cirrhosis, Cognition disorder, Diabetes complications, Delirium, dementia, and cognitive disorders, Biliary cholangitis 1 shared pathwayBile secretion 9 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Cholelithiasis), Disgenet (Cholelithiasis), CTD (Cognition disorder), Disgenet (Diabetes complications), Disgenet (Delirium, dementia, and cognitive disorders), CTD (Diabetes complications), CTD (Liver cirrhosis), Disgenet (Biliary cholangitis) Related via 7 shared diseases including Biliary cirrhosis, Cholelithiasis — evidence mostly Disgenet. CYGB 4 shared diseasesBiliary cirrhosis, Cholelithiasis, Liver cirrhosis, Biliary cholangitis 5 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Cholelithiasis), Disgenet (Cholelithiasis), CTD (Liver cirrhosis), Disgenet (Biliary cholangitis) Related via 4 shared diseases including Biliary cirrhosis, Cholelithiasis — evidence mostly Disgenet. ENTPD2 3 shared diseasesBiliary cirrhosis, Liver cirrhosis, Biliary cholangitis 3 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Liver cirrhosis), Disgenet (Biliary cholangitis) Related via 3 shared diseases including Biliary cirrhosis, Liver cirrhosis — evidence mostly Disgenet. NSA2 3 shared diseasesBiliary cirrhosis, Liver cirrhosis, Biliary cholangitis 3 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Liver cirrhosis), Disgenet (Biliary cholangitis) Related via 3 shared diseases including Biliary cirrhosis, Liver cirrhosis — evidence mostly Disgenet. SEMA7A 2 shared diseasesCholelithiasis, Progressive intrahepatic cholestasis 5 shared evidence sourcesCTD (Cholelithiasis), Disgenet (Cholelithiasis), HPO (Cholelithiasis), ClinVar (Cholelithiasis), Disgenet (Progressive intrahepatic cholestasis) Related via 2 shared diseases including Cholelithiasis, Progressive intrahepatic cholestasis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SLC51B	7	["Biliary cirrhosis","Cholelithiasis","Liver cirrhosis","Cognition disorder","Diabetes complications","Delirium, dementia, and cognitive disorders","Biliary cholangitis"]	1	["Bile secretion"]	9	["Disgenet (Biliary cirrhosis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","CTD (Cognition disorder)","Disgenet (Diabetes complications)","Disgenet (Delirium, dementia, and cognitive disorders)","CTD (Diabetes complications)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
CYGB	4	["Biliary cirrhosis","Cholelithiasis","Liver cirrhosis","Biliary cholangitis"]	0	[]	5	["Disgenet (Biliary cirrhosis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
ENTPD2	3	["Biliary cirrhosis","Liver cirrhosis","Biliary cholangitis"]	0	[]	3	["Disgenet (Biliary cirrhosis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
NSA2	3	["Biliary cirrhosis","Liver cirrhosis","Biliary cholangitis"]	0	[]	3	["Disgenet (Biliary cirrhosis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
SEMA7A	2	["Cholelithiasis","Progressive intrahepatic cholestasis"]	0	[]	5	["CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","HPO (Cholelithiasis)","ClinVar (Cholelithiasis)","Disgenet (Progressive intrahepatic cholestasis)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 2 of 5 related genesCYGB, SEMA7A Bile acid malabsorption Linked via 1 of 5 related genesSLC51B Diabetic neuropathy Linked via 1 of 5 related genesCYGB Hepatic insufficiency Linked via 1 of 5 related genesCYGB Hepatomegaly Linked via 1 of 5 related genesCYGB

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	2	["CYGB","SEMA7A"]
Bile acid malabsorption	1	["SLC51B"]
Diabetic neuropathy	1	["CYGB"]
Hepatic insufficiency	1	["CYGB"]
Hepatomegaly	1	["CYGB"]