CLTRN - collectrin, amino acid transport regulator Gene

Homo sapiens

Also known as NX17; NX-17; TMEM27

Gene ID: 57393 | Gene type: protein coding

About CLTRN

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,627,318-15,675,644 (from NCBI)

This gene has 2 transcripts (splice variants), 173 orthologues and is associated with 1 phenotype. Biased expression in kidney (RPKM 116.5) and liver (RPKM 8.9).

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 membrane. It also plays a role in controlling Insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

CLTRN Products(1)

mRNA	Protein	Name
NM_020665.6	NP_065716.1	collectrin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16330323	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	22628310	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in SNARE complex assembly	IDA IDA: Inferred from direct assay	16330323	GOA
acts upstream of positive effect calcium-ion regulated exocytosis	IDA IDA: Inferred from direct assay	16330323	GOA
acts upstream of positive effect insulin secretion involved in cellular response to glucose stimulus	IDA IDA: Inferred from direct assay	16330323	GOA
involved in positive regulation of L-proline import across plasma membrane	IGI IGI: Inferred from genetic interaction	25534429	GOA
involved in regulation of transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	25534429	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16330323	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21907142	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

collectrin

kidney-specific membrane protein

CLTRN Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CLTRN	Q9HBJ8	SMCO4	Homo sapiens	Q9NRQ5	Validated Y2H	32296183
Intra	CLTRN	Q9HBJ8	UBE2J1	Homo sapiens	Q9Y385	Validated Y2H	32296183
Intra	CLTRN	Q9HBJ8	UBE2J1	Homo sapiens	Q9Y385	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CLTRN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77246	Collectrin/TMEM27 Protein, Human (HEK293, Fc)	Q9HBJ8 (E15-P141)	≥95%

Related Diseases

Diseases

Alias

Aminoaciduria

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

Iminoglycinuria

Iminoglycinuria, Digenic

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02847	CLTRN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLTRN	RGD	RGD:708489
Mus musculus	CLTRN	MGD	MGI:1926234
Canis familiaris	CLTRN	VGNC	VGNC:47568
Others	CLTRN	NCBI

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