SKIV2_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:
SKIV2L
, DDX13, SKI2W, SKIV2, W
Protein names and data:
SKIV2_HUMAN
, Helicase SKI2W; Ski2; 3.6.4.-
, Helicase-like protein; HLP
Lenght: 1246 a.a.
Mass: 137755 Da
fasta formatted sequence
Function:
Helicase; has ATPase activity. 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:
600478
614602
)
Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]: 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:
Nucleus (Probable). Cytoplasm (Probable).
Genetic variants
151 - 151
Q -> R (in dbSNP:rs438999). VAR_060379
438999
183 - 183
L -> V (in a breast cancer sample; somatic mutation). VAR_035944
214 - 214
M -> L (in dbSNP:rs437179). VAR_060380
437179
324 - 324
R -> W (in dbSNP:rs36038685). VAR_055888
36038685
341 - 341
V -> G (in THES2; dbSNP:rs281875237). VAR_067721
281875237
765 - 765
M -> I (in a colorectal cancer sample; somatic mutation). VAR_035945
887 - 887
D -> N (in dbSNP:rs3911893). VAR_055889
3911893
917 - 917
V -> M (in dbSNP:rs106287). VAR_055890
106287
1071 - 1071
A -> V (in dbSNP:rs449643). VAR_055891
449643
1153 - 1153
G -> R (in dbSNP:rs2734329). VAR_060381
2734329
1238 - 1238
V -> G (in dbSNP:rs2746400). VAR_060382
2746400
Database cross-references
UniProt:
Q15477
Ensembl:
ENST00000375394
Ensembl:
ENST00000383336
Ensembl:
ENST00000412823
Ensembl:
ENST00000421789
Ensembl:
ENST00000429465
Ensembl:
ENST00000448219
MIM:
600478
MIM:
614602
neXtProt:
NX_Q15477
Antibodypedia:
Q15477
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.