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Aliases for DCBLD1 Gene

Aliases for DCBLD1 Gene

  • Discoidin, CUB And LCCL Domain Containing 1 2 3 5
  • Discoidin, CUB And LCCL Domain-Containing Protein 1 3
  • DJ94G16.1 3

External Ids for DCBLD1 Gene

Previous GeneCards Identifiers for DCBLD1 Gene

  • GC06P117803
  • GC06P117849
  • GC06P117910
  • GC06P115384

Summaries for DCBLD1 Gene

GeneCards Summary for DCBLD1 Gene

DCBLD1 (Discoidin, CUB And LCCL Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oligosaccharide binding. An important paralog of this gene is DCBLD2.

Additional gene information for DCBLD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCBLD1 Gene

Genomics for DCBLD1 Gene

GeneHancer (GH) Regulatory Elements for DCBLD1 Gene

Promoters and enhancers for DCBLD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J117481 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.9 +29.0 29013 3.5 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 DCBLD1 ZUP1 RPL29P4 RNU6-253P PIR41328 ENSG00000282218
GH06J117451 Enhancer 0.7 Ensembl dbSUPER 655.1 -1.9 -1916 0.2 KLF16 HLF CEBPA CEBPB RARA DCBLD1 ENSG00000226181 RAP1BP3 ENSG00000282218
GH06J117490 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 34.9 +41.1 41112 9.1 JUN TEAD4 TAL1 MZF1 ZMYM3 BATF TCF12 ZNF316 POLR2A EED DCBLD1 RNU6-253P ENSG00000226181 PIR41328 ENSG00000282218
GH06J117505 Enhancer 1.2 Ensembl ENCODE dbSUPER 23 +52.3 52317 1.8 ELF3 FOXA2 ARID4B DMAP1 ZNF48 RARA ZNF614 THAP11 SP5 ELF1 DCBLD1 ENSG00000226181 RNU6-253P NUS1 PIR41328 ENSG00000282218
GH06J117446 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 14.8 -5.3 -5334 3.8 RAD21 RFX5 ZNF366 ZNF143 RCOR1 FOS ZNF362 ZNF654 CEBPB REST ROS1 DCBLD1 SLC35F1 CALHM6 ENSG00000226181 RAP1BP3 ENSG00000282218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCBLD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCBLD1 gene promoter:
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • MyoD
  • HFH-1
  • POU2F1
  • POU2F1a
  • FOXC1
  • Lmo2
  • Pax-6

Genomic Locations for DCBLD1 Gene

Genomic Locations for DCBLD1 Gene
chr6:117,453,817-117,569,858
(GRCh38/hg38)
Size:
116,042 bases
Orientation:
Plus strand
chr6:117,774,980-117,891,021
(GRCh37/hg19)
Size:
116,042 bases
Orientation:
Plus strand

Genomic View for DCBLD1 Gene

Genes around DCBLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCBLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCBLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCBLD1 Gene

Proteins for DCBLD1 Gene

  • Protein details for DCBLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8Z6-DCBD1_HUMAN
    Recommended name:
    Discoidin, CUB and LCCL domain-containing protein 1
    Protein Accession:
    Q8N8Z6
    Secondary Accessions:
    • Q5H992
    • Q8IYK5
    • Q8N7L9
    • Q96NH2

    Protein attributes for DCBLD1 Gene

    Size:
    715 amino acids
    Molecular mass:
    77920 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04663.1; Type=Frameshift; Positions=483; Evidence={ECO:0000305}; Sequence=BAC05258.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DCBLD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCBLD1 Gene

Post-translational modifications for DCBLD1 Gene

  • Glycosylation at posLast=455455, Asn418, posLast=351351, Asn277, Asn124, and Asn64
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DCBLD1 Gene

Domains & Families for DCBLD1 Gene

Gene Families for DCBLD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for DCBLD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCBLD1: view

No data available for UniProtKB/Swiss-Prot for DCBLD1 Gene

Function for DCBLD1 Gene

Phenotypes From GWAS Catalog for DCBLD1 Gene

Gene Ontology (GO) - Molecular Function for DCBLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070492 oligosaccharide binding IBA --
genes like me logo Genes that share ontologies with DCBLD1: view
genes like me logo Genes that share phenotypes with DCBLD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DCBLD1

miRNA for DCBLD1 Gene

miRTarBase miRNAs that target DCBLD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DCBLD1 Gene

Localization for DCBLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCBLD1 Gene

Membrane; Single-pass type I membrane protein.

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 DCBLD1 gene
Compartment Confidence
plasma membrane 3
peroxisome 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DCBLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DCBLD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DCBLD1 Gene

Pathways & Interactions for DCBLD1 Gene

SuperPathways for DCBLD1 Gene

No Data Available

Interacting Proteins for DCBLD1 Gene

Gene Ontology (GO) - Biological Process for DCBLD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DCBLD1 Gene

Drugs & Compounds for DCBLD1 Gene

(2) Drugs for DCBLD1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1181
genes like me logo Genes that share compounds with DCBLD1: view

Transcripts for DCBLD1 Gene

Unigene Clusters for DCBLD1 Gene

Discoidin, CUB and LCCL domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCBLD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: - - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for DCBLD1 Gene

GeneLoc Exon Structure for
DCBLD1
ECgene alternative splicing isoforms for
DCBLD1

Expression for DCBLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCBLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCBLD1 Gene

This gene is overexpressed in Liver (55.2) and Testis (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCBLD1 Gene



Protein tissue co-expression partners for DCBLD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DCBLD1 Gene:

DCBLD1

SOURCE GeneReport for Unigene cluster for DCBLD1 Gene:

Hs.658304

Evidence on tissue expression from TISSUES for DCBLD1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DCBLD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCBLD1 Gene

Orthologs for DCBLD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCBLD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCBLD1 34 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCBLD1 34 33
  • 87.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dcbld1 16 34 33
  • 84.38 (n)
rat
(Rattus norvegicus)
Mammalia Dcbld1 33
  • 83.12 (n)
dog
(Canis familiaris)
Mammalia DCBLD1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCBLD1 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCBLD1 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCBLD1 34 33
  • 71.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCBLD1 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcbld1 33
  • 62.85 (n)
zebrafish
(Danio rerio)
Actinopterygii dcbld1 34
  • 32 (a)
OneToOne
Species where no ortholog for DCBLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 DCBLD1 Gene

ENSEMBL:
Gene Tree for DCBLD1 (if available)
TreeFam:
Gene Tree for DCBLD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCBLD1: view image

Paralogs for DCBLD1 Gene

Paralogs for DCBLD1 Gene

(3) SIMAP similar genes for DCBLD1 Gene using alignment to 3 proteins:

  • DCBD1_HUMAN
  • H0Y4G4_HUMAN
  • Q5H993_HUMAN
genes like me logo Genes that share paralogs with DCBLD1: view

Variants for DCBLD1 Gene

Sequence variations from dbSNP and Humsavar for DCBLD1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000037219 -- 117,543,994(+) T/G intron_variant
rs1000051632 -- 117,505,973(+) C/T intron_variant
rs1000075267 -- 117,549,975(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000138918 -- 117,551,433(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000171965 -- 117,556,515(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DCBLD1 Gene

Variant ID Type Subtype PubMed ID
esv2668460 CNV deletion 23128226
esv2732613 CNV deletion 23290073
esv3610496 CNV loss 21293372
esv3610497 CNV loss 21293372
nsv1133382 CNV tandem duplication 24896259
nsv477000 CNV novel sequence insertion 20440878
nsv507356 OTHER sequence alteration 20534489

Variation tolerance for DCBLD1 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCBLD1 Gene

Human Gene Mutation Database (HGMD)
DCBLD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCBLD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCBLD1 Gene

Disorders for DCBLD1 Gene

Additional Disease Information for DCBLD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DCBLD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DCBLD1 Gene

Publications for DCBLD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DCBLD1 Gene

Sources for DCBLD1 Gene

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