Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57393
Gene name Gene Name - the full gene name approved by the HGNC.	Collectrin, amino acid transport regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLTRN
Synonyms (NCBI Gene) Gene synonyms aliases	NX-17, NX17, TMEM27
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(16)

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

MIM	HGNC	e!Ensembl
300631	29437	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

Tissue specificity

TISSUE SPECIFICITY: Kidney; collecting ducts. Pancreas; beta cells of islets. {ECO:0000269|PubMed:11278314, ECO:0000269|PubMed:16330323}.

Sequence

MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRK
VPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLND
QTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVD
DAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL

Sequence length

222

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Hartnup Disease	Hartnup disease			GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Renal Cell	Associate	27417314
COVID 19	Associate	37567834, 38069039
Death	Associate	27417314
Diabetes Mellitus Type 2	Inhibit	24905913
Mental Fatigue	Associate	38069039
Neoplasms	Associate	27417314
Post Acute COVID 19 Syndrome	Associate	38069039

CLTRN (collectrin, amino acid transport regulator)