SLC51A (solute carrier family 51 member A)

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)

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:

Bile secretion

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cholestasis, progressive familial intrahepatic, 6	Pathogenic	rs1388285232	RCV001563712

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SLC51A-related disorder	Uncertain significance; Likely benign; Benign	rs141959809, rs139191241, rs201745104, rs9849888, rs781144406, rs1488534773, rs925691713, rs370423851, rs780006859, rs939885, rs1476331, rs17852687, rs199724731, rs376473125, rs148131579, rs372259930, rs144417558, rs192475271, rs140725914, rs140837522, rs202017943, rs779143599, rs149437891, rs374534021, rs779232895, rs2474005278, rs530565206, rs145068718, rs963667914, rs372691007, rs747550066, rs148913870, rs538670663, rs143576972	RCV003408595 RCV003392846 RCV003907110 RCV003921511 RCV003921694 RCV003982583 RCV003893772 RCV003896423 RCV003894154 RCV003979853 RCV003984644 RCV003982429 RCV003899212 RCV003899349 RCV003952162 RCV003959519 RCV003959813 RCV003917135 RCV003931587 RCV003929534 RCV003941640 RCV003949577 RCV003949745 RCV003958952 RCV003959019 RCV003959159 RCV003922287 RCV003956704 RCV003969622 RCV003967165 RCV003969148 RCV003966851 RCV003966915 RCV004756564
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs141959809	RCV005932780

Associations from Text Mining
Disease Name	Relationship Type	References
Chemical and Drug Induced Liver Injury	Associate	29420067, 34599072
Cholelithiasis	Inhibit	18469300
Cholelithiasis	Associate	19995447
Cholestasis	Inhibit	25798860
Cholestasis	Associate	29420067, 34599072
Cholestasis Intrahepatic	Associate	37697751
Coronary Disease	Associate	33031748
Gallstones	Associate	18469300
Liver Cirrhosis Biliary	Associate	29420067
Liver Failure	Associate	25798860, 29420067
Non alcoholic Fatty Liver Disease	Associate	27301979
Non alcoholic Fatty Liver Disease	Stimulate	29420067