InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NBAS

Summary

InnateDB Protein

IDBP-30505.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NBAS

Protein Name

neuroblastoma amplified sequence

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000281513

InnateDB Gene

IDBG-30503 (NBAS)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:20577004}.

Disease Associations

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. {ECO:0000269PubMed:20577004}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10882752, ECO:0000269PubMed:12706883, ECO:0000269PubMed:20577004, ECO:0000269PubMed:9926938}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0000956	nuclear-transcribed mRNA catabolic process
GO:2000623	negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

Cellular Component