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    IGHMBP2 immunoglobulin mu binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 3508, updated on 20-Apr-2017
    Official Symbol
    IGHMBP2provided by HGNC
    Official Full Name
    immunoglobulin mu binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:5542
    See related
    Ensembl:ENSG00000132740 MIM:600502; Vega:OTTHUMG00000167894
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HCSA; HMN6; CATF1; CMT2S; SMARD1; SMUBP2; ZFAND7
    Summary
    This gene encodes 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. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (68903851..68940602)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68671319..68708070)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369364 Neighboring gene mitochondrial ribosomal protein L21 Neighboring gene MAS related GPR family member D Neighboring gene MRGPRF antisense RNA 1 Neighboring gene MAS related GPR family member F

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of immunoglobulin mu binding protein 2 (IGHMBP2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ34220, FLJ41171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent 5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent 5'-3' RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    single-stranded DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    tRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    translation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    NOT colocalizes_with SMN complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular ribonucleoprotein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA-binding protein SMUBP-2
    Names
    ATP-dependent helicase IGHMBP2
    GF-1
    cardiac transcription factor 1
    glial factor 1
    zinc finger, AN1-type domain 7
    NP_002171.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007976.1 RefSeqGene

      Range
      5001..41751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_250

    mRNA and Protein(s)

    1. NM_002180.2NP_002171.2  DNA-binding protein SMUBP-2

      See identical proteins and their annotated locations for NP_002171.2

      Status: REVIEWED

      Source sequence(s)
      BC025299, BE302389, DB448398, L14754
      Consensus CDS
      CCDS8187.1
      UniProtKB/Swiss-Prot
      P38935
      Related
      ENSP00000255078.3, OTTHUMP00000237202, ENST00000255078.7, OTTHUMT00000396862
      Conserved Domains (6) summary
      cd02641
      Location:726784
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      TIGR00376
      Location:19641
      TIGR00376; DNA helicase, putative
      pfam01428
      Location:897934
      zf-AN1; AN1-like Zinc finger
      pfam12300
      Location:766850
      DUF3628; Protein of unknown function (DUF3628)
      pfam13087
      Location:418615
      AAA_12; AAA domain
      pfam13245
      Location:198256
      AAA_19; Part of AAA domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      68903851..68940602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017671.1XP_016873160.1  DNA-binding protein SMUBP-2 isoform X4

    2. XM_005273976.1XP_005274033.1  DNA-binding protein SMUBP-2 isoform X5

      Conserved Domains (2) summary
      pfam13086
      Location:192410
      AAA_11; AAA domain
      pfam13245
      Location:198256
      AAA_19; Part of AAA domain
    3. XM_005273974.2XP_005274031.1  DNA-binding protein SMUBP-2 isoform X1

      Conserved Domains (4) summary
      cd02641
      Location:389447
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      pfam01428
      Location:560597
      zf-AN1; AN1-like Zinc finger
      pfam07793
      Location:448522
      DUF1631; Protein of unknown function (DUF1631)
      pfam13087
      Location:81278
      AAA_12; AAA domain
    4. XM_017017669.1XP_016873158.1  DNA-binding protein SMUBP-2 isoform X1

      Conserved Domains (4) summary
      cd02641
      Location:389447
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      pfam01428
      Location:560597
      zf-AN1; AN1-like Zinc finger
      pfam07793
      Location:448522
      DUF1631; Protein of unknown function (DUF1631)
      pfam13087
      Location:81278
      AAA_12; AAA domain
    5. XM_017017670.1XP_016873159.1  DNA-binding protein SMUBP-2 isoform X1

      Conserved Domains (4) summary
      cd02641
      Location:389447
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      pfam01428
      Location:560597
      zf-AN1; AN1-like Zinc finger
      pfam07793
      Location:448522
      DUF1631; Protein of unknown function (DUF1631)
      pfam13087
      Location:81278
      AAA_12; AAA domain
    6. XM_005273975.3XP_005274032.1  DNA-binding protein SMUBP-2 isoform X2

      Conserved Domains (4) summary
      cd02641
      Location:350408
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      pfam01428
      Location:521558
      zf-AN1; AN1-like Zinc finger
      pfam07793
      Location:409483
      DUF1631; Protein of unknown function (DUF1631)
      pfam13087
      Location:42239
      AAA_12; AAA domain
    7. XM_011544994.1XP_011543296.1  DNA-binding protein SMUBP-2 isoform X3

      Conserved Domains (4) summary
      cd02641
      Location:315373
      R3H_Smubp-2_like; R3H domain of Smubp-2_like proteins. Smubp-2_like proteins also contain a helicase_like and an AN1-like Zinc finger domain and have been shown to bind single-stranded DNA. The name of the R3H domain comes from the characteristic spacing of the most ...
      pfam01428
      Location:486523
      zf-AN1; AN1-like Zinc finger
      pfam07793
      Location:374448
      DUF1631; Protein of unknown function (DUF1631)
      pfam13087
      Location:7204
      AAA_12; AAA domain

    RNA

    1. XR_949903.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      68554758..68591518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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