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 IGHMBP2 gene.[5][6]
IGHMBP2 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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1MSZ, 2LRR, 4B3F, 4B3G |
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Identifiers |
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Aliases | IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2 |
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External IDs | OMIM: 600502 MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2 |
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Gene location (Human) |
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| Chr. | Chromosome 11 (human)[1] |
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| Band | 11q13.3 | Start | 68,903,863 bp[1] |
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End | 68,940,602 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 19 (mouse)[2] |
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| Band | 19 A|19 3.03 cM | Start | 3,259,076 bp[2] |
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End | 3,283,017 bp[2] |
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Gene ontology |
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Molecular function | • DNA binding • nucleotide binding • ATPase, acting on DNA • GO:0043141 5'-3' DNA helicase activity • GO:0008026 helicase activity • GO:0032575 5'-3' RNA helicase activity • ribosome binding • tRNA binding • zinc ion binding • transcription factor binding • metal ion binding • single-stranded DNA binding • GO:0004003 DNA helicase activity • GO:0001948 protein binding • RNA binding • nucleic acid binding • hydrolase activity • ATP binding • ATPase, acting on RNA
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Cellular component | • cytoplasm • cell projection • membrane • growth cone • SMN complex • axon • nucleus • ribonucleoprotein complex
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Biological process | • DNA recombination • regulation of transcription, DNA-templated • transcription, DNA-templated • DNA replication • protein homooligomerization • DNA repair • DNA duplex unwinding • protein biosynthesis
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Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 11: 68.9 – 68.94 Mb | Chr 19: 3.26 – 3.28 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[7]