DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2gene.[5][6]
^ abcGRCh38: Ensembl release 89: ENSG00000132740 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000024831 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 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". The Journal of Biological Chemistry. 268 (23): 17463–70. doi:10.1016/S0021-9258(19)85357-7. PMID 8349627.
^"Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
^Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396. S2CID 7028396.
Further readingedit
Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y (2004). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". Journal of Human Genetics. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
Tachi N, Kikuchi S, Kozuka N, Nogami A (April 2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatric Neurology. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6. doi:10.1002/humu.9241. PMID 15108294. S2CID 39222622.
Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238. S2CID 24478377.
Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM (September 2006). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Research and Treatment. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224. S2CID 9625880.
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
ighmbp2, binding, protein, smubp, also, known, immunoglobulin, helicase, binding, protein, cardiac, transcription, factor, catf1, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1msz, 2lrr, 4b3f, 4b3gidentif. DNA binding protein SMUBP 2 also known as immunoglobulin helicase m binding protein 2 IGHMBP2 and cardiac transcription factor 1 CATF1 is a protein that in humans is encoded by the IGHMBP2 gene 5 6 IGHMBP2Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1MSZ 2LRR 4B3F 4B3GIdentifiersAliasesIGHMBP2 CATF1 HCSA HMN6 SMARD1 SMUBP2 ZFAND7 CMT2S immunoglobulin mu binding protein 2 immunoglobulin mu DNA binding protein 2External IDsOMIM 600502 MGI 99954 HomoloGene 1642 GeneCards IGHMBP2Gene location Human Chr Chromosome 11 human 1 Band11q13 3Start68 903 863 bp 1 End68 940 602 bp 1 Gene location Mouse Chr Chromosome 19 mouse 2 Band19 A 19 3 03 cMStart3 309 076 bp 2 End3 333 017 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastric mucosapopliteal arteryascending aortasural nerveright coronary arteryleft coronary arterycanal of the cervixganglionic eminenceleft uterine tubetransverse colonTop expressed insacculeurethramale urethraspermatocytemorulaneural tubesuperior frontal gyrusprimitive streaksecondary oocytelipMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding nucleotide binding ATP dependent activity acting on DNA 5 3 DNA helicase activity helicase activity 5 3 RNA helicase activity ribosome binding tRNA binding zinc ion binding transcription factor binding metal ion binding single stranded DNA binding DNA helicase activity protein binding RNA binding nucleic acid binding hydrolase activity ATP binding ATP dependent activity acting on RNACellular componentcytoplasm cell projection membrane growth cone SMN complex axon nucleus ribonucleoprotein complexBiological processDNA recombination regulation of transcription DNA templated transcription DNA templated DNA replication protein homooligomerization DNA repair DNA duplex unwinding protein biosynthesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez350820589EnsemblENSG00000132740ENSMUSG00000024831UniProtP38935P40694RefSeq mRNA NM 002180NM 009212RefSeq protein NP 002171n aLocation UCSC Chr 11 68 9 68 94 MbChr 19 3 31 3 33 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseMutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 distal hereditary motor neuropathy type VI 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000132740 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000024831 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Fukita Y Mizuta TR Shirozu M Ozawa K Shimizu A Honjo T August 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 The Journal of Biological Chemistry 268 23 17463 70 doi 10 1016 S0021 9258 19 85357 7 PMID 8349627 Entrez Gene IGHMBP2 immunoglobulin mu binding protein 2 Grohmann K Schuelke M Diers A Hoffmann K Lucke B Adams C Bertini E Leonhardt Horti H Muntoni F Ouvrier R Pfeufer A Rossi R Van Maldergem L Wilmshurst JM Wienker TF Sendtner M Rudnik Schoneborn S Zerres K Hubner C September 2001 Mutations in the gene encoding immunoglobulin mu binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 Nature Genetics 29 1 75 7 doi 10 1038 ng703 PMID 11528396 S2CID 7028396 Further reading editOhtsubo S Iida A Nitta K Tanaka T Yamada R Ohnishi Y Maeda S Tsunoda T Takei T Obara W Akiyama F Ito K Honda K Uchida K Tsuchiya K Yumura W Ujiie T Nagane Y Miyano S Suzuki Y Narita I Gejyo F Fujioka T Nihei H Nakamura Y 2004 Association of a single nucleotide polymorphism in the immunoglobulin mu binding protein 2 gene with immunoglobulin A nephropathy Journal of Human Genetics 50 1 30 5 doi 10 1007 s10038 004 0214 8 PMID 15599641 Tachi N Kikuchi S Kozuka N Nogami A April 2005 A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1 Pediatric Neurology 32 4 288 90 doi 10 1016 j pediatrneurol 2004 11 003 PMID 15797190 Maystadt I Zarhrate M Landrieu P Boespflug Tanguy O Sukno S Collignon P Melki J Verellen Dumoulin C Munnich A Viollet L May 2004 Allelic heterogeneity of SMARD1 at the IGHMBP2 locus Human Mutation 23 5 525 6 doi 10 1002 humu 9241 PMID 15108294 S2CID 39222622 Guenther UP Schuelke M Bertini E D Amico A Goemans N Grohmann K Hubner C Varon R September 2004 Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1 Human Genetics 115 4 319 26 doi 10 1007 s00439 004 1156 0 PMID 15290238 S2CID 24478377 Shen J Terry MB Gammon MD Gaudet MM Teitelbaum SL Eng SM Sagiv SK Neugut AI Santella RM September 2006 IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH DNA adducts to breast cancer risk Breast Cancer Research and Treatment 99 1 1 7 doi 10 1007 s10549 006 9174 3 PMID 16752224 S2CID 9625880 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title IGHMBP2 amp oldid 1142717233, wikipedia, wiki, book, books, library,
