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

    Gene ID: 79007, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.9), esophagus (RPKM 5.3) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001042610.3NP_001036075.1  dysbindin domain-containing protein 1 isoform 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:16150
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    2. NM_001288708.2NP_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:16150
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    3. NM_001288709.2NP_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:168
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    4. NM_001371581.1NP_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:168
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    5. NM_024043.4NP_076948.2  dysbindin domain-containing protein 1 isoform 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:36170
      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)