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    DTNB dystrobrevin, beta [ Homo sapiens ]

    Gene ID: 1838, updated on 21-May-2012
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    Summary

    Official Symbol
    DTNBprovided by HGNC
    Official Full Name
    dystrobrevin, betaprovided by HGNC
    Primary source
    HGNC:3058
    See related
    Ensembl:ENSG00000138101; HPRD:09091; MIM:602415; Vega:OTTHUMG00000152129
    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
    MGC17163; MGC57126
    Summary
    This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    2p24
    Sequence :
    Chromosome: 2; NC_000002.11 (25600112..25896503, complement)
    See DTNB in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene DNA (cytosine-5-)-methyltransferase 3 alpha Neighboring gene uncharacterized LOC100131510 Neighboring gene microRNA 1301 Neighboring gene uncharacterized LOC100505472 Neighboring gene additional sex combs like 2 (Drosophila) Neighboring gene tropomyosin 3 pseudogene 7 Neighboring gene kinesin family member 3C

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Lettre G, et al. PLoS Genet, 2011 Feb 10. PMID 21347282.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation. Artegiani B, et al. J Biol Chem, 2010 Aug 6. PMID 20530487.
    4. Many sequence variants affecting diversity of adult human height. Gudbjartsson DF, et al. Nat Genet, 2008 May. PMID 18391951.
    5. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Nazarian R, et al. Biochem J, 2006 May 1. PMID 16448387.

    See all (22) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35
      Title: The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.
    2. results suggest that dysbindin assembled into BLOC-1 is not a physiological binding partner of the dystrobrevins, likely due to engagement of its dystrobrevin-binding region in interactions with other subunits
      Title: Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

    Many sequence variants affecting diversity of adult human height.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O60941 Brain enriched guanylate kinase associated protein BEGAIN    HPRD  PubMed  
    O60941 Q96A04 C1orf182    HPRD  PubMed  
    O60941 Q15834 CCDC85B    HPRD  PubMed  
    O60941 P11532 DMD    HPRD  PubMed  
    O60941 O60941 DTNB    HPRD  PubMed  
    O60941 Q96EV8 DTNBP1    HPRD  PubMed  
    O60941 Q9NP66 HMG20A    HPRD  PubMed  
    O60941 Q12840 KIF5A    HPRD  PubMed  
    O60941 P37198 NUP62    HPRD  PubMed  
    O60941 Q8ND30 PPFIBP2    HPRD  PubMed  
    O60941 Phosphoribosyl transferase domain containing 1 PRTFDC1    HPRD  PubMed  
    O60941 Q9NSN8 SNTG1    HPRD  PubMed  
    O60941 Q9NY99 SNTG2    HPRD  PubMed  
    O60941 Q12933 TRAF2    HPRD  PubMed  
    O60941 P46939 UTRN    HPRD  PubMed  
    BioGRID:108171 BioGRID:121647 BEGAIN    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:126101 C1orf182    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:116198 CCDC85B    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:108096 DMD    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108171 BioGRID:115643 HMG20A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108171 BioGRID:109999 KIF5A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108171 BioGRID:110000 KIF5B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108171 BioGRID:117165 NUP62    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:114067 PPFIBP2    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:121276 PRTFDC1    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:112523 SNTA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108171 BioGRID:113038 TRAF2    BioGRID  PubMed Two-hybrid 
    BioGRID:108171 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    dystrobrevin beta
    Names
    dystrobrevin beta
    DTN-B
    beta-dystrobrevin
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    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.

    mRNA and Protein(s)

    1. NM_001256303.1 → NP_001243232.1  dystrobrevin beta isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (6) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK300019, BC016655, DB460644, Y15722
      UniProtKB/TrEMBL
      B7Z6A9
      UniProtKB/Swiss-Prot
      O60941
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 222
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 485
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 385
      efhand_2; EF-hand
      pfam02403
      Location:440 – 514
      Blast Score: 89
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    2. NM_001256304.1 → NP_001243233.1  dystrobrevin beta isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (7) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      BC016655, DQ160290
      UniProtKB/TrEMBL
      Q1I0L3
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 222
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 485
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 384
      efhand_2; EF-hand
      pfam02403
      Location:440 – 514
      Blast Score: 89
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    3. NM_001256308.1 → NP_001243237.1  dystrobrevin beta isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream AUG start codon, and lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (8) has a shorter N-terminus and lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AK301386, BC016655
      UniProtKB/TrEMBL
      B7Z733
      UniProtKB/TrEMBL
      F5GZG4
      Conserved Domains (4) summary
      cd02334
      Location:184 – 232
      Blast Score: 223
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:1 – 83
      Blast Score: 301
      efhand_1; EF hand
      pfam09069
      Location:87 – 175
      Blast Score: 384
      efhand_2; EF-hand
      pfam02403
      Location:383 – 457
      Blast Score: 91
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    4. NM_021907.4 → NP_068707.1  dystrobrevin beta isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1).
      Source sequence(s)
      AF022728, DB460644
      Consensus CDS
      CCDS46237.1
      UniProtKB/Swiss-Prot
      O60941
      Related
      ENSP00000384084, OTTHUMP00000201254, ENST00000406818, OTTHUMT00000325361
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 221
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 487
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 387
      efhand_2; EF-hand
      cl05125
      Location:432 – 504
      Blast Score: 84
      FliT; Flagellar protein FliT

    5. NM_033147.3 → NP_149159.2  dystrobrevin beta isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AF022728, BC016655, DB460644
      Consensus CDS
      CCDS46235.1
      UniProtKB/Swiss-Prot
      O60941
      Related
      ENSP00000385482, OTTHUMP00000201255, ENST00000404103, OTTHUMT00000325362
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 218
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 490
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 386
      efhand_2; EF-hand
      cl05125
      Location:432 – 504
      Blast Score: 84
      FliT; Flagellar protein FliT

    6. NM_033148.3 → NP_149160.1  dystrobrevin beta isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      DB460644, Y12712
      Consensus CDS
      CCDS46234.1
      UniProtKB/Swiss-Prot
      O60941
      Related
      ENSP00000384767, OTTHUMP00000201257, ENST00000407038, OTTHUMT00000325364
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 220
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 492
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 387
      efhand_2; EF-hand
      cl05125
      Location:402 – 474
      Blast Score: 86
      FliT; Flagellar protein FliT

    7. NM_183360.2 → NP_899204.1  dystrobrevin beta isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      BC016655, BC049366, DB460644, Y12712
      Consensus CDS
      CCDS46236.1
      UniProtKB/TrEMBL
      G5E9F6
      UniProtKB/Swiss-Prot
      O60941
      UniProtKB/TrEMBL
      Q86VR4
      Related
      ENSP00000385193, OTTHUMP00000201256, ENST00000407661, OTTHUMT00000325363
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 220
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 487
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 386
      efhand_2; EF-hand
      cl05125
      Location:432 – 504
      Blast Score: 84
      FliT; Flagellar protein FliT

    8. NM_183361.2 → NP_899205.1  dystrobrevin beta isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (5) lacks three internal segments, compared to isoform 1.
      Source sequence(s)
      BC016655, DB460644
      Consensus CDS
      CCDS46233.1
      Related
      ENSP00000384787, OTTHUMP00000201258, ENST00000405222, OTTHUMT00000325365
      Conserved Domains (4) summary
      cd02334
      Location:241 – 289
      Blast Score: 221
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:14 – 140
      Blast Score: 489
      efhand_1; EF hand
      pfam09069
      Location:144 – 232
      Blast Score: 385
      efhand_2; EF-hand
      pfam02403
      Location:410 – 484
      Blast Score: 89
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      25600112..25896503, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      25337508..25633561, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010150.3 AAY14840.1
    genomic AC012074.9 AAY14762.1
    genomic AC019144.9 AAY24111.1
    genomic AC104699.2 AAY24207.1
    genomic CH471053.2 EAX00719.1
      EAX00720.1
      EAX00721.1
      EAX00722.1
      EAX00723.1
      EAX00724.1
      EAX00725.1
    mRNA AF022728.1 AAC05082.1
    mRNA AF070567.1 AAC28643.1
    mRNA AK094494.1 None
    mRNA AK225724.1 None
    mRNA AK294174.1 BAH11688.1
    mRNA AK294357.1 BAH11744.1
    mRNA AK300019.1 BAH13195.1
    mRNA AK301386.1 BAH13469.1
    mRNA BC016655.1 AAH16655.1
    mRNA BC049366.1 AAH49366.1
    mRNA BT009805.1 AAP88807.1
    mRNA DB460644.1 None
    mRNA DQ160290.1 ABA08463.1
    mRNA R15062.1 None
    mRNA Y12712.1 CAA73249.1
    mRNA Y15718.1 CAA75733.1
    mRNA Y15719.1 CAA75734.1
    mRNA Y15720.1 CAA75735.1
    mRNA Y15721.1 CAA75736.1
    mRNA Y15722.1 CAA75737.1
    other-genetic JF432264.1 ADZ15481.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60941.1 GenPept UniProtKB/Swiss-Prot:O60941
    Q1I0L3 GenPept UniProtKB/TrEMBL:Q1I0L3
    Q53QV1 GenPept UniProtKB/TrEMBL:Q53QV1
    Q53SF9 GenPept UniProtKB/TrEMBL:Q53SF9
    Q53T51 GenPept UniProtKB/TrEMBL:Q53T51
    Q53TC8 GenPept UniProtKB/TrEMBL:Q53TC8
    Q86VR4 GenPept UniProtKB/TrEMBL:Q86VR4
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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