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

Gene ID: 3508, updated on 8-Dec-2018

Summary

Official Symbol
IGHMBP2provided by HGNC
Official Full Name
immunoglobulin mu DNA binding protein 2provided by HGNC
Primary source
HGNC:HGNC:5542
See related
Ensembl:ENSG00000132740 MIM:600502
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]
Expression
Broad expression in testis (RPKM 9.6), endometrium (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See IGHMBP2 in Genome Data Viewer
Location:
11q13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (68903851..68940601)
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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
translation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
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
 
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
DNA-binding protein SMUBP-2
Names
ATP-dependent helicase IGHMBP2
GF-1
cardiac transcription factor 1
glial factor 1
immunoglobulin mu binding protein 2
zinc finger, AN1-type domain 7
NP_002171.2
XP_005274031.1
XP_005274032.1
XP_005274033.1
XP_011543296.1
XP_016873158.1
XP_016873159.1
XP_016873160.1

NCBI Reference Sequences (RefSeq)

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, ENST00000255078.7
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    68903851..68940601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_005273976.2XP_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_017017669.2XP_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_017017670.2XP_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_949903.3 RNA Sequence

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