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    DBNDD1 dysbindin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79007, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DBNDD1provided by HGNC
    Official Full Name
    dysbindin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28455
    See related
    Ensembl:ENSG00000003249 MIM:620388; AllianceGenome:HGNC:28455
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.9), esophagus (RPKM 5.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DBNDD1 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (90004871..90019890, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96090776..96106065, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90071279..90086298, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90039036-90040019 Neighboring gene CENPB DNA-binding domain containing 1, pseudogene Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90054784-90054958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:90059900-90060881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90061681-90062880 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46884 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46891 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90066749-90066899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7936 Neighboring gene Sharpr-MPRA regulatory region 21 Neighboring gene growth arrest specific 8 Neighboring gene GAS8 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90112831-90113344 Neighboring gene urate (hydroxyiso-) hydrolase, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Backbone and side chain resonance assignment of the intrinsically disordered human DBNDD1 protein. Wiedemann C, et al. Biomol NMR Assign, 2022 Oct. PMID 35474152, Free PMC Article
    2. Variation in the dysbindin gene and normal cognitive function in three independent population samples. Luciano M, et al. Genes Brain Behav, 2009 Mar. PMID 19077176
    3. TRIM32 is an E3 ubiquitin ligase for dysbindin. Locke M, et al. Hum Mol Genet, 2009 Jul 1. PMID 19349376, Free PMC Article
    4. Genome-wide association study of tanning phenotype in a population of European ancestry. Nan H, et al. J Invest Dermatol, 2009 Sep. PMID 19340012, Free PMC Article
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Backbone and side chain resonance assignment of the intrinsically disordered human DBNDD1 protein.
      Title: Backbone and side chain resonance assignment of the intrinsically disordered human DBNDD1 protein.
    2. TRIM32 is a widely expressed ubiquitin ligase and binds and ubiquitinates dysbindin.
      Title: TRIM32 is an E3 ubiquitin ligase for dysbindin.
    3. Our results therefore support involvement of the dysbindin gene in cognitive function
      Title: Variation in the dysbindin gene and normal cognitive function in three independent population samples.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of tanning phenotype in a population of European ancestry.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3101, FLJ12582

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dysbindin domain-containing protein 1
    Names
    dysbindin (dystrobrevin binding protein 1) domain containing 1

    NCBI Reference Sequences (RefSeq)

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    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_001042610.3 → NP_001036075.1  dysbindin domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001036075.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 4. The encoded isoform (1) has a shorter and distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      AK022644, BC000700, HY166977
      Consensus CDS
      CCDS42223.1
      UniProtKB/Swiss-Prot
      B4DQS3, Q69YT2, Q9BW25, Q9H9R9
      UniProtKB/TrEMBL
      H3BLZ2
      Related
      ENSP00000002501.6, ENST00000002501.11
      Conserved Domains (1) summary
      pfam04440
      Location:16 → 150
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    2. NM_001288708.2 → NP_001275637.1  dysbindin domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 4. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      BC000700, DA041774, DA713832
      UniProtKB/TrEMBL
      H3BLZ2
      Conserved Domains (1) summary
      pfam04440
      Location:16 → 150
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    3. NM_001288709.2 → NP_001275638.2  dysbindin domain-containing protein 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes isoform 5.
      Source sequence(s)
      AC092143, AC133919
      Consensus CDS
      CCDS73931.2
      UniProtKB/TrEMBL
      D3DX86
      Related
      ENSP00000457625.2, ENST00000568838.2
      Conserved Domains (1) summary
      pfam04440
      Location:1 → 68
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    4. NM_001371581.1 → NP_001358510.1  dysbindin domain-containing protein 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (5) with a shorter N-terminus, compared to isoform 4.
      Source sequence(s)
      AC092143
      Consensus CDS
      CCDS73931.2
      UniProtKB/TrEMBL
      D3DX86
      Related
      ENSP00000501273.1, ENST00000568662.2
      Conserved Domains (1) summary
      pfam04440
      Location:1 → 68
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    5. NM_024043.4 → NP_076948.2  dysbindin domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_076948.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 4. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 4.
      Source sequence(s)
      BC000700
      Consensus CDS
      CCDS10991.2
      UniProtKB/TrEMBL
      H3BLZ2
      Related
      ENSP00000306407.3, ENST00000304733.8
      Conserved Domains (1) summary
      pfam04440
      Location:36 → 170
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      90004871..90019890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      96090776..96106065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9R9.2 GenPept UniProtKB/Swiss-Prot:Q9H9R9

    Gene LinkOut

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

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