CLTRN - collectrin, amino acid transport regulator Gene

Also Known as NX17; NX-17; TMEM27

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 57393

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

製品番号 製品名 アクセッション番号 純度
HY-P77246 Collectrin/TMEM27 Protein, Human (HEK293, Fc) Q9HBJ8 (E15-P141) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

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

  • IG
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

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS02847 CLTRN Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18512 Cltrn Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24994 Cltrn Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus CLTRN RGD RGD:708489
Mus musculus CLTRN MGD MGI:1926234
Canis familiaris CLTRN VGNC VGNC:47568
Others CLTRN NCBI