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neuron navigator 2; helicase APC down-regulated 1; retinoic acid inducible in neuroblastoma 1; steerin-2; unc53H2 (NAV2, HELAD1, KIAA1419, RAINB1, STEERIN2)
Function:
1) 3' to 5' helicase activity & exonuclease activity
2) role in neuronal development, specifically development of sensory organs
Structure:
- belongs to the Nav/unc-53 family
- contains 1 CH domain (calponin-homology domain)
Compartment: nucleus
Alternative splicing:
- named isoforms=13
- additional isoforms may exist
Expression:
- expressed in the brain, kidney liver > thyroid, mammary gland, spinal cord, heart, placenta, lung
- highly expressed in nervous system of developing embryos
- induced by all-trans retinoic acid (atRA)
Pathology:
- abundantly expressed in colon cancers
General
exoribonuclease
helicase (DNA unwinding protein, DNA untwisting protein)
human longevity protein
Properties
SIZE: MW = 268 kD
entity length = 2488 aa
COMPARTMENT: cell nucleus
MOTIF: calponin homology domain
NAME: calponin homology domain
SITE: 85-192
glutamine-rich region {192-255}
MOTIF: glutamine residue (SEVERAL)
proline-rich region
SITE: 324-328
MOTIF: proline residue (SEVERAL)
coiled coil {498-531}
serine-rich region {633-638}
MOTIF: serine residue (SEVERAL)
coiled coil {743-771}
serine-rich region {1363-1683}
MOTIF: serine residue (SEVERAL)
coiled coil {1686-1773}
lysine-rich region {1824-1829}
MOTIF: lysine residue (SEVERAL)
coiled coil {1897-1964}
Ser phosphorylation site {S1977}
ATP-binding site
NAME: ATP-binding site
SITE: 2157-2164
Database Correlations
OMIM 607026
UniProt Q8IVL1
Pfam PF00307
Entrez Gene 89797
Kegg hsa:89797
ENZYME 3.6.4.12
References
- UniProt :accession Q8IVL1
- UniProt PubMed refs
- PMID: 12079279
- PMID: 079279
- PMID: 12214280