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Immunoglobulin Mu Binding Protein 2 (IGHmBP2)

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CATF1; HCSA; SMARD1; SMUBP2; HMN6; Cardiac Transcription Factor 1; DNA-binding protein SMUBP-2; ATP-dependent helicase IGHMBP2; Short name: GF-1

Immunoglobulin Mu Binding Protein 2 (IGHmBP2)
CCC D037
HGNC 5542
MGI 99954
PubMed 22965130
RGD 68325
UniProt P38935
Wiki IGHMBP2
IGHMBP2 is a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1.Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibited strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region (By similarity). DNA- binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Stimulates the transcription of the human neurotropic virus JCV.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Mu Binding Protein 2 (IGHmBP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Mu Binding Protein 2 (IGHmBP2) ELISA Kit Customized Service Offer
  1. "The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region."J. Biol. Chem. 268:17463-17470(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Smubp-2 represses the Epstein-Barr virus lytic switch promoter."Virology 255:160-170(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. , Submitted (JUL-2007) to UniProtKB
  6. "A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV."J. Biol. Chem. 266:15876-15881(1991) [PubMed] [Europe PMC] [Abstract]
  7. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  8. "IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)."Hum. Mol. Genet. 18:1288-1300(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery."Hum. Mol. Genet. 18:2115-2126(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  13. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  14. "Solution structure of the R3H domain from human Smubp-2."J. Mol. Biol. 326:217-223(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1."Nat. Genet. 29:75-77(2001) [PubMed] [Europe PMC] [Abstract]
  16. "Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)." Ann. Neurol. 54:719-724(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1."Hum. Genet. 115:319-326(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus."Hum. Mutat. 23:525-526(2004) [PubMed] [Europe PMC] [Abstract]
  19. "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1."Pediatr. Neurol. 32:288-290(2005) [PubMed] [Europe PMC] [Abstract]
  20. "Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis."Hum. Mutat. 28:808-815(2007) [PubMed] [Europe PMC] [Abstract]
  21. "Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease."J. Mol. Med. 87:31-41(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2." Am. J. Hum. Genet. 95:590-601(2014) [PubMed] [Europe PMC] [Abstract]