CLTRN (collectrin, amino acid transport regulator)

Gene

• Entrez ID: 57393
• Gene name: Collectrin, amino acid transport regulator
• Gene symbol: CLTRN
• Synonyms: NX-17, NX17, TMEM27
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma me

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16330323, 32296183
GO:0005737	Component	Cytoplasm	IDA	16330323
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	21907142, 22628310
GO:0016021	Component	Integral component of membrane	IEA
GO:0022898	Process	Regulation of transmembrane transporter activity	IGI	25534429
GO:0035543	Process	Positive regulation of SNARE complex assembly	IBA	21873635
GO:0035543	Process	Positive regulation of SNARE complex assembly	IDA	16330323
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IBA	21873635
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IDA	16330323
GO:0042803	Function	Protein homodimerization activity	IDA	22628310
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IBA	21873635
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IDA	16330323
GO:0051957	Process	Positive regulation of amino acid transport	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1905737	Process	Positive regulation of L-proline import across plasma membrane	IGI	25534429

Other IDs

• MIM: 300631
• HGNC: 29437
• e!Ensembl: ENSG00000147003

Protein

• UniProt ID: Q9HBJ8
• Protein name: Collectrin (Transmembrane protein 27)
• Protein function: Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also pla
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16959	Collectrin	24 → 171	Renal amino acid transporter	Domain

• Sequence:

  MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRK
  VPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLND
  QTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVD
  DAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL

• Sequence length: 222

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Hartnup disease	Hartnup disease
Liver carcinoma	Liver carcinoma		28284560