RBCC Red Blood Cell Collection

TTC37_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: TTC37 , KIAA0372
Protein names and data: TTC37_HUMAN , Tetratricopeptide repeat protein 37; TPR repeat protein 37 , SKI3 homolog; Ski3; Tricho-hepatic-enteric syndrome protein; Thespin Lenght: 1564 a.a.
Mass: 175486 Da
fasta formatted sequence
Function: Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).
Disease: ( OMIM: 222470 614589 ) Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus.
Tissue specificity: Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver.

Genetic variants

251 - 251 G -> R (in THES1). VAR_067957
437 - 437 L -> V (in dbSNP:rs17084873). VAR_027705 17084873
860 - 878 Missing (found in a THES1 patient). VAR_065297
1077 - 1077 A -> D (found in a THES1 patient). VAR_065298
1270 - 1270 P -> A (found in a THES1 patient). VAR_065299
1283 - 1283 D -> N (in THES1). VAR_067958
1296 - 1296 R -> S (in dbSNP:rs2303650). VAR_027706 2303650
1485 - 1485 L -> R (found in a THES1 patient). VAR_065300
1505 - 1505 L -> S (in THES1). VAR_067959

Database cross-references

UniProt: Q6PGP7
Ensembl: ENST00000358746
MIM: 222470
MIM: 614589
neXtProt: NX_Q6PGP7
Antibodypedia: Q6PGP7 (may not find the protein thus also not any antibody)
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