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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 (Collectrin, Amino Acid Transport Regulator) is a Protein Coding gene. Diseases associated with CLTRN include Aminoaciduria and Hartnup Disorder. Among its related pathways are Metabolism of proteins and Peptide hormone metabolism. An important paralog of this gene is ENSG00000285602.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16330323 |
GO:0042803 | protein homodimerization activity | IDA | 22628310 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 16330323 |
GO:0005886 | plasma membrane | IEA,IDA | 21907142 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide hormone metabolism | ||
2 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0035543 | positive regulation of SNARE complex assembly | IDA | 16330323 |
GO:0035774 | positive regulation of insulin secretion involved in cellular response to glucose stimulus | IDA | 16330323 |
GO:0045956 | positive regulation of calcium ion-dependent exocytosis | IDA | 16330323 |
GO:0051957 | positive regulation of amino acid transport | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM27 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM27 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM27 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Tmem27 30 31 |
|
OneToOne | |
Cltrn 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Tmem27 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TMEM27 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM27 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM27 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM27 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem27 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68634 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-194e6.1 30 |
|
||
TMEM27 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ance-2 31 |
|
OneToMany | |
Ance-4 31 |
|
OneToMany | |||
Ance-5 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | acn-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758862 | CNV | loss | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aminoaciduria |
|
|
hartnup disorder |
|
|
fanconi-like syndrome |
|
|
maturity-onset diabetes of the young, type 3 |
|
|
renal cysts and diabetes syndrome |
|
|