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

Gene ID: 79007, updated on 2-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
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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 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)

Genotypes

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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