Aliases for DBNDD1 Gene

Aliases for DBNDD1 Gene

  • Dysbindin Domain Containing 1 2 3 5
  • Dysbindin (Dystrobrevin Binding Protein 1) Domain Containing 1 2 3
  • Dysbindin Domain-Containing Protein 1 3 4
  • FLJ12582 2
  • MGC3101 2
  • DBNDD1 5

External Ids for DBNDD1 Gene

Previous GeneCards Identifiers for DBNDD1 Gene

  • GC16M088599
  • GC16M090071
  • GC16M075763

Summaries for DBNDD1 Gene

GeneCards Summary for DBNDD1 Gene

DBNDD1 (Dysbindin Domain Containing 1) is a Protein Coding gene. Diseases associated with DBNDD1 include Hermansky-Pudlak Syndrome 7. An important paralog of this gene is DTNBP1.

Additional gene information for DBNDD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DBNDD1 Gene

Genomics for DBNDD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DBNDD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DBNDD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DBNDD1

Top Transcription factor binding sites by QIAGEN in the DBNDD1 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • LCR-F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DBNDD1 Gene

Genomic Locations for DBNDD1 Gene
chr16:90,004,865-90,020,128
(GRCh38/hg38)
Size:
15,264 bases
Orientation:
Minus strand
chr16:90,071,273-90,086,536
(GRCh37/hg19)
Size:
15,264 bases
Orientation:
Minus strand

Genomic View for DBNDD1 Gene

Genes around DBNDD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBNDD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBNDD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBNDD1 Gene

Proteins for DBNDD1 Gene

  • Protein details for DBNDD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9R9-DBND1_HUMAN
    Recommended name:
    Dysbindin domain-containing protein 1
    Protein Accession:
    Q9H9R9
    Secondary Accessions:
    • B4DQS3
    • Q69YT2
    • Q9BW25

    Protein attributes for DBNDD1 Gene

    Size:
    158 amino acids
    Molecular mass:
    17042 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DBNDD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DBNDD1 Gene

Post-translational modifications for DBNDD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DBNDD1 Gene

Domains & Families for DBNDD1 Gene

Gene Families for DBNDD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DBNDD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DBNDD1 Gene

GenScript: Design optimal peptide antigens:
  • Dysbindin domain-containing protein 1 (DBND1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9R9

UniProtKB/Swiss-Prot:

DBND1_HUMAN :
  • Belongs to the dysbindin family.
Family:
  • Belongs to the dysbindin family.
genes like me logo Genes that share domains with DBNDD1: view

Function for DBNDD1 Gene

Phenotypes From GWAS Catalog for DBNDD1 Gene

genes like me logo Genes that share phenotypes with DBNDD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DBNDD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DBNDD1 Gene

Localization for DBNDD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DBNDD1 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DBNDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DBNDD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DBNDD1 Gene

Pathways & Interactions for DBNDD1 Gene

PathCards logo

SuperPathways for DBNDD1 Gene

No Data Available

Interacting Proteins for DBNDD1 Gene

Gene Ontology (GO) - Biological Process for DBNDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IBA 21873635
genes like me logo Genes that share ontologies with DBNDD1: view

No data available for Pathways by source and SIGNOR curated interactions for DBNDD1 Gene

Drugs & Compounds for DBNDD1 Gene

No Compound Related Data Available

Transcripts for DBNDD1 Gene

mRNA/cDNA for DBNDD1 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DBNDD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DBNDD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for DBNDD1 Gene

GeneLoc Exon Structure for
DBNDD1

Expression for DBNDD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DBNDD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DBNDD1 Gene

This gene is overexpressed in Brain - Cortex (x5.8), Brain - Frontal Cortex (BA9) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DBNDD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DBNDD1

SOURCE GeneReport for Unigene cluster for DBNDD1 Gene:

Hs.301394

Evidence on tissue expression from TISSUES for DBNDD1 Gene

  • Nervous system(4.8)
  • Eye(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with DBNDD1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DBNDD1 Gene

Orthologs for DBNDD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DBNDD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DBNDD1 30 31
  • 98.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DBNDD1 30 31
  • 82.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DBNDD1 30 31
  • 79.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dbndd1 30
  • 78.18 (n)
Mouse
(Mus musculus)
Mammalia Dbndd1 30 17 31
  • 72.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DBNDD1 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DBNDD1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DBNDD1 30 31
  • 69.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DBNDD1 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dbndd1 30
  • 69.23 (n)
Zebrafish
(Danio rerio)
Actinopterygii DBNDD1 31
  • 42 (a)
OneToOne
Species where no ortholog for DBNDD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DBNDD1 Gene

ENSEMBL:
Gene Tree for DBNDD1 (if available)
TreeFam:
Gene Tree for DBNDD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DBNDD1: view image

Paralogs for DBNDD1 Gene

Paralogs for DBNDD1 Gene

(1) SIMAP similar genes for DBNDD1 Gene using alignment to 3 proteins:

  • DBND1_HUMAN
  • H3BLZ2_HUMAN
  • H3BS76_HUMAN
genes like me logo Genes that share paralogs with DBNDD1: view

Variants for DBNDD1 Gene

Additional dbSNP identifiers (rs#s) for DBNDD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DBNDD1 Gene

Variant ID Type Subtype PubMed ID
dgv3067n100 CNV gain 25217958
esv1095561 CNV deletion 17803354
esv1361959 CNV deletion 17803354
esv26767 CNV gain 19812545
esv2762221 CNV gain+loss 21179565
esv3332179 CNV duplication 20981092
esv3448710 CNV duplication 20981092
esv3582452 CNV loss 25503493
esv3639603 CNV gain 21293372
nsv1062080 CNV loss 25217958
nsv1066499 CNV loss 25217958
nsv1070787 CNV deletion 25765185
nsv428331 CNV gain+loss 18775914
nsv457626 CNV loss 19166990
nsv471119 CNV loss 18288195
nsv471120 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv573799 CNV gain 21841781
nsv573810 CNV loss 21841781
nsv573841 CNV loss 21841781
nsv573842 CNV loss 21841781
nsv952080 CNV deletion 24416366

Variation tolerance for DBNDD1 Gene

Residual Variation Intolerance Score: 33.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.19; 39.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DBNDD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DBNDD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DBNDD1 Gene

Disorders for DBNDD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DBNDD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 7
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DBNDD1

genes like me logo Genes that share disorders with DBNDD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DBNDD1 Gene

Publications for DBNDD1 Gene

  1. Genome-wide association study of tanning phenotype in a population of European ancestry. (PMID: 19340012) Nan H … Han J (The Journal of investigative dermatology 2009) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4

Products for DBNDD1 Gene

Sources for DBNDD1 Gene