NBAS_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
NBAS
, NAG
Protein names and data:
NBAS_HUMAN
, Neuroblastoma-amplified sequence
, Neuroblastoma-amplified gene protein
Lenght: 2371 a.a.
Mass: 268571 Da
fasta formatted sequence
Disease:
( OMIM:
608025
614800
)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Tissue specificity:
Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblastoma cell lines.
Genetic variants
44 - 44
Q -> E (in dbSNP:rs77081203). VAR_068954
77081203
243 - 243
I -> V (in dbSNP:rs13029846). VAR_057611
13029846
655 - 655
K -> R (in dbSNP:rs4668909). VAR_057612
4668909
949 - 949
V -> L (in dbSNP:rs74727069). VAR_068955
74727069
1004 - 1004
R -> Q (in dbSNP:rs16862653). VAR_057613
16862653
1009 - 1009
C -> S (in dbSNP:rs74411619). VAR_068956
74411619
1178 - 1178
S -> N (in dbSNP:rs35770368). VAR_057614
35770368
1914 - 1914
R -> H (in SOPH). VAR_068957
2074 - 2074
A -> T (in dbSNP:rs6710817). VAR_057615
6710817
Database cross-references
UniProt:
A2RRP1
Ensembl:
ENST00000281513
Ensembl:
ENST00000441750
MIM:
608025
MIM:
614800
neXtProt:
NX_A2RRP1
Antibodypedia:
A2RRP1
(may not find the protein thus also not any antibody)
Local full text data:
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