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

Gene ID: 79007, updated on 12-Oct-2019

Summary

Official Symbol
DBNDD1provided by HGNC
Official Full Name
dysbindin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28455
See related
Ensembl:ENSG00000003249
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
Expression
Ubiquitous expression in brain (RPKM 6.9), esophagus (RPKM 5.3) and 22 other tissues See more
Orthologs

Genomic context

See DBNDD1 in Genome Data Viewer
Location:
16q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (90004865..90020131, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90071279..90085937, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CENPB DNA-binding domain containing 1 Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3926 Neighboring gene growth arrest specific 8 Neighboring gene GAS8 antisense RNA 1 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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • MGC3101, FLJ12582

Gene Ontology Provided by GOA

Component Evidence Code Pubs
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)

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

    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
    Q9H9R9
    Related
    ENSP00000002501.6, ENST00000002501.10
    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/Swiss-Prot
    Q9H9R9
    Conserved Domains (1) summary
    pfam04440
    Location:16150
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  3. NM_001288709.1NP_001275638.1  dysbindin domain-containing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001275638.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AK298932, BC000700, BM682437, DA713832
    Consensus CDS
    CCDS73931.1
    UniProtKB/Swiss-Prot
    Q9H9R9
    Related
    ENSP00000457625.1, ENST00000568838.1
    Conserved Domains (1) summary
    pfam04440
    Location:136270
    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
  5. NM_024043.3NP_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, BM682437
    Consensus CDS
    CCDS10991.2
    UniProtKB/Swiss-Prot
    Q9H9R9
    Related
    ENSP00000306407.3, ENST00000304733.7
    Conserved Domains (1) summary
    pfam04440
    Location:36170
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    90004865..90020131 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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