CLTRN
entrez
57393
canonical
uniprot
Q9HBJ8
canonical
ensembl
ENSG00000147003
resolver
ensp
ENSP00000369699
resolver
ensp
ENSP00000497814
resolver
ensp
ENSP00000539775
resolver
ensp
ENSP00000588309
resolver
ensp
ENSP00000588310
resolver
ensp
ENSP00000624022
resolver
enst
ENST00000380342
resolver
enst
ENST00000650271
resolver
enst
ENST00000918250
resolver
enst
ENST00000918251
resolver
enst
ENST00000953963
resolver
genesymbol
CLTRN
resolver
genesymbol_syn
TMEM27
resolver
hgnc
HGNC:29437
resolver
uniprot
A0A3B3ITM8
resolver
uniprot
B2R9M1
resolver
uniprot
Q6UW07
resolver
uniprot_entry
A0A3B3ITM8_HUMAN
resolver
uniprot_entry
CLTRN_HUMAN
resolver
uniprot_sec
B2R9M1
resolver
uniprot_sec
Q6UW07
resolver
amino_acid_sequence
MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRKVPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLNDQTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVDDAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL
uniprot
proteins
disease_involvement
DISEASE: Note=An interstitial deletion on chromosome Xp22.2 encompassing CLTRN and a deletion spanning CLTRN exons 1 to 3 have been found in two individuals with a neuropsychiatric disorder characterized by autistic features, anxiety, depression, compulsions, motor tics, and neutral aminoaciduria. Plasma amino acids were normal in both patients. {ECO:0000269|PubMed:31520464}.
uniprot
proteins
function
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 play a role in trafficking of amino acid transporters SLC3A1 and SLC7A9 to the renal cortical cell membrane (By similarity). Regulator of SNARE complex function (PubMed:16330323). Stimulator of beta cell replication (PubMed:16330323). {ECO:0000250|UniProtKB:Q9ESG4, ECO:0000269|PubMed:16330323}.
uniprot
proteins
mass_dalton
25235
uniprot
proteins
mutagenesis
MUTAGEN 75; /note="C->A: Increased dimerization leading to hyperoligomerized. Abolishes processing by BACE2. Abolishes localization to the cell membrane."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 76; /note="N->I: Loss of localization to the cell membrane. Abolishes processing by BACE2. Loss of localization to the cell membrane; when associated with I-93."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 93; /note="N->I: Loss of localization to the cell membrane. Abolishes processing by BACE2. Loss of localization to the cell membrane; when associated with I-76."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 115..119; /note="AFFLN->GGGGG,AAAAA,TYYLR: Increases processing by BACE2. Decreases of protein abundance."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 123..128; /note="LEFLKI->NTYGKR: Does not affet processing by BACE2."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 152; /note="C->A: Does not affect dimerization. Does not affect cell membrane localization. Abolishes dimerization; when associated with A-186."; /evidence="ECO:0000269|PubMed:22628310"; MUTAGEN 186; /note="C->A: Abolishes dimerization. Does not affect cell membrane localization. Does not affect processing by BACE2. Abolishes dimerization; when associated with A-152."; /evidence="ECO:0000269|PubMed:22628310
uniprot
proteins
post_translational_modification
PTM: Glycosylated. Glycosylation is required for plasma membrane localization and for its cleavage by BACE2. {ECO:0000269|PubMed:22628310}.; PTM: Proteolytically processed in pancreatic beta cells by BACE2 leading to the generation and extracellular release of soluble CLTRN, and a corresponding cell-associated C-terminal fragment which is later cleaved by gamma-secretase. This shedding process inactivates CLTRN (By similarity). Three cleavage sites have been identified for BACE2, two clustered sites after Phe-116 and Leu-118 and a more membrane proximal site at Phe-125; the preferred BACE2 cleavage site seems to be between Phe-125 and Leu-126, Phe-116 and Leu-118 act as alternative sites (PubMed:21907142, PubMed:22628310). {ECO:0000250|UniProtKB:Q9ESG4, ECO:0000269|PubMed:21907142, ECO:0000269|PubMed:22628310}.
uniprot
proteins
protein_family
CLTRN family
uniprot
proteins
pubmed
11278314
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16330323
uniprot
proteins
pubmed
21907142
uniprot
proteins
pubmed
22628310
uniprot
proteins
pubmed
31520464
uniprot
proteins
sequence_length
222
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22628310}; Single-pass type I membrane protein {ECO:0000255}. Note=Localizes to the brush border membranes of cells in the proximal tubules of kidney (By similarity). Colocalizes with SLC6A19 in the early proximal S1 tubule (By similarity). {ECO:0000250|UniProtKB:Q9ESG4}.
uniprot
proteins
transmembrane_region
TRANSMEM 142..162; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU01354
uniprot
proteins