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DNA-binding protein SMUBP-2; ATP-dependent helicase IGHMBP2; immunoglobulin mu-binding protein 2; SMUBP-2; glial factor 1; GF-1 (IGHMBP2, SMBP2, SMUBP2)
Function:
- DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region
- preferentially binds to the motif 5'-GGGCT-3'
- phosphorylated upon DNA damage, probably by ATM or ATR
Structure:
- belongs to the DNA2/NAM7 helicase family
- contains 1 AN1-type Zn+2 finger
- contains 1 R3H domain
Compartment: nucleus (putative)
Expression: In all tissues examined
Pathology:
- defects in IGHMBP2 are the cause of spinal muscle atrophy with respiratory distress type 1
- stimulates transcription of human neurotropic virus JCV
General
DNA-binding protein
helicase (DNA unwinding protein, DNA untwisting protein)
phosphoprotein
zinc finger protein
Properties
SIZE: entity length = 993 aa
MW = 109 kD
COMPARTMENT: cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
ATP-binding site
NAME: ATP-binding site
SITE: 214-221
DNA-binding motif
SITE: 638-785
MOTIF: Ser phosphorylation site {S656}
R3H {723-786}
proline-rich region
SITE: 795-859
MOTIF: proline residue (SEVERAL)
lysine-rich region {864-870}
MOTIF: lysine residue (SEVERAL)
nuclear translocation signal {864-868}
Zinc finger
NAME: Zinc finger
SITE: 894-940
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
UniProt P38935
Pfam PF01424
References
- UniProt :accession P38935
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IGHMBP2