IGHMBP2

Immunoglobulin mu binding protein 2

PDB rendering based on 1msz.

Available structures
PDB	1msz

Identifiers

Symbols

IGHMBP2; CATF1; FLJ34220; FLJ41171; HCSA; HMN6; SMARD1; SMUBP2

External IDs

OMIM: 600502 MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2 Gene

Gene Ontology
Molecular function	• tRNA binding • nucleotide binding • DNA binding • DNA helicase activity • single-stranded DNA binding • RNA binding • protein binding • ATP binding • DNA-dependent ATPase activity • transcription factor binding • RNA-dependent ATPase activity • zinc ion binding • hydrolase activity • ATP-dependent 5'-3' RNA helicase activity • ribosome binding • ATP-dependent 5'-3' DNA helicase activity • metal ion binding
Cellular component	• nucleus • cytoplasm • axon • growth cone • ribonucleoprotein complex • SMN complex • cell projection • neuronal cell body • perinuclear region of cytoplasm
Biological process	• negative regulation of transcription from RNA polymerase II promoter • DNA replication • DNA repair • DNA recombination • regulation of transcription, DNA-dependent • translation • cell death • spinal cord motor neuron differentiation • protein homooligomerization
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 11:
68.67 – 68.71 Mb

Chr 19:
3.26 – 3.28 Mb

PubMed search

[1]

[2]

DNA-binding protein SMUBP-2 is a protein that in humans is encoded by the IGHMBP2 gene.^[1]^[2]

References

^ Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (Sep 1993). "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 (23): 17463–70. PMID 8349627.
^ "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3508.

Giannini A, Pinto AM, Rossetti G, et al. (2007). "Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.". Intensive care medicine 32 (11): 1851–5. doi:10.1007/s00134-006-0346-8. PMID 16964485.
Kerr D, Khalili K (1991). "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 (24): 15876–81. PMID 1714899.
Mizuta TR, Fukita Y, Miyoshi T, et al. (1993). "Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences". Nucleic Acids Res. 21 (8): 1761–6. doi:10.1093/nar/21.8.1761. PMC 309412. PMID 8493094. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=309412.
Gulley ML, Zhang Q, Gascoyne RD, et al. (1998). "Translocations of 11q13 in mantle cell lymphoma fail to disrupt the S mu bp-2 gene". Hematopathology and molecular hematology 11 (1): 1–11. PMID 9439975.
Mohan WS, Chen ZQ, Zhang X, et al. (1998). "Human S mu binding protein-2 binds to the drug response element and transactivates the human apoA-I promoter: role of gemfibrozil". J. Lipid Res. 39 (2): 255–67. PMID 9507986.
Zhang Q, Wang YC, Montalvo EA (1999). "Smubp-2 represses the Epstein-Barr virus lytic switch promoter". Virology 255 (1): 160–70. doi:10.1006/viro.1998.9588. PMID 10049831.
Biswas EE, Nagele RG, Biswas S (2001). "A novel human hexameric DNA helicase: expression, purification and characterization". Nucleic Acids Res. 29 (8): 1733–40. doi:10.1093/nar/29.8.1733. PMC 31321. PMID 11292846. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=31321.
Grohmann K, Schuelke M, Diers A, et al. (2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nat. Genet. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Liepinsh E, Leonchiks A, Sharipo A, et al. (2003). "Solution structure of the R3H domain from human Smubp-2". J. Mol. Biol. 326 (1): 217–23. doi:10.1016/S0022-2836(02)01381-5. PMID 12547203.
Grohmann K, Varon R, Stolz P, et al. (2004). "Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)". Ann. Neurol. 54 (6): 719–24. doi:10.1002/ana.10755. PMID 14681881.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Chen YZ, Bennett CL, Huynh HM, et al. (2004). "DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)". Am. J. Hum. Genet. 74 (6): 1128–35. doi:10.1086/421054. PMC 1182077. PMID 15106121. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182077.
Lehner B, Sanderson CM (2004). "A Protein Interaction Framework for Human mRNA Degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=442147.
Guenther UP, Schuelke M, Bertini E, et al. (2005). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Hum. Genet. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238.
Ohtsubo S, Iida A, Nitta K, et al. (2005). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". J. Hum. Genet. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
Tachi N, Kikuchi S, Kozuka N, Nogami A (2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatr. Neurol. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
Shen J, Beth Terry M, Gammon MD, et al. (2007). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Res. Treat. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224.

PDB gallery

1msz: Solution structure of the R3H domain from human Smubp-2

IGHMBP2

References

Further reading