NUTM1_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
NUTM1
, C15orf55, NUT
Protein names and data:
NUTM1_HUMAN
, NUT family member 1
, Nuclear protein in testis
Lenght: 1132 a.a.
Mass: 120314 Da
fasta formatted sequence
Disease:
( OMIM:
608963
)
Note=A chromosomal aberration involving NUT is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;19)(q14;p13) with BRD4 which produces a BRD4-NUT fusion protein. Note=A chromosomal aberration involving NUT is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;9)(q14;q34) with BRD3 which produces a BRD3-NUT fusion protein.
Cellular location:
Cytoplasm. Nucleus. Note=Shuttles between nucleus and cytoplasm.
Tissue specificity:
Specifically expressed in testis.
Genetic variants
22 - 22
P -> L (in dbSNP:rs374230). VAR_037239
374230
781 - 781
T -> M (in dbSNP:rs16959028). VAR_037240
16959028
785 - 785
V -> E (in dbSNP:rs17236868). VAR_037241
17236868
973 - 973
T -> N (in dbSNP:rs2279683). VAR_037242
2279683
985 - 985
P -> R (in dbSNP:rs2279684). VAR_037243
2279684
1113 - 1113
R -> H (in dbSNP:rs2279685). VAR_037244
2279685
Database cross-references
UniProt:
Q86Y26
Ensembl:
ENST00000333756
MIM:
608963
neXtProt:
NX_Q86Y26
Antibodypedia:
Q86Y26
(may not find the protein thus also not any antibody)
Local full text data:
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