NAL14_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:
NLRP14
, NALP14, NOD5
Protein names and data:
NAL14_HUMAN
, NACHT, LRR and PYD domains-containing protein 14
, Nucleotide-binding oligomerization domain protein 5
Lenght: 1093 a.a.
Mass: 124733 Da
fasta formatted sequence
Function:
May be involved in inflammation and spermatogenesis.
Tissue specificity:
Testis-specific.
Genetic variants
21 - 21
E -> K (in dbSNP:rs11041150). VAR_053622
11041150
48 - 48
N -> T (in dbSNP:rs12801277). VAR_031932
12801277
55 - 55
R -> E (requires 2 nucleotide substitutions). VAR_031933
86 - 86
D -> V (associated with spermatogenic failure). VAR_031934
92 - 92
K -> R (in dbSNP:rs16921697). VAR_031935
16921697
98 - 98
S -> L (in dbSNP:rs117823353). VAR_031936
117823353
375 - 375
A -> T (associated with spermatogenic failure). VAR_031937
397 - 397
T -> I (in dbSNP:rs76670455). VAR_031938
76670455
441 - 441
V -> M (in dbSNP:rs147389856). VAR_031939
147389856
511 - 511
L -> F (in dbSNP:rs11041151). VAR_053623
11041151
522 - 522
D -> Q (associated with spermatogenic failure; requires 2 nucleotide substitutions). VAR_031940
779 - 779
S -> C (in a breast cancer sample; somatic mutation). VAR_036387
808 - 808
E -> K (in dbSNP:rs10839708). VAR_024180
10839708
951 - 951
S -> T (in dbSNP:rs117124176). VAR_031941
117124176
954 - 954
L -> S (in dbSNP:rs117583918). VAR_031942
117583918
1010 - 1010
L -> F (in dbSNP:rs17280682). VAR_031943
17280682
1019 - 1019
M -> I (associated with spermatogenic failure; dbSNP:rs115776642). VAR_031944
115776642
Database cross-references
UniProt:
Q86W24
Ensembl:
ENST00000299481
MIM:
609665
neXtProt:
NX_Q86W24
Antibodypedia:
Q86W24
(may not find the protein thus also not any antibody)
Local full text data:
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