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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DCBLD1 Gene

protein-coding GIFtS: 46
GCID: GC06P117849

discoidin, CUB and LCCL domain containing 1

Search for DCBLD1
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Discoidin, CUB And LCCL Domain Containing 1¹ ²
DJ94G16.1¹
MGC46341¹
Discoidin, CUB And LCCL Domain-Containing Protein 1²

External Ids:	HGNC: 21479¹	Entrez Gene: 285761²	Ensembl: ENSG00000164465⁷	UniProtKB: Q8N8Z6³

Export aliases for DCBLD1 gene to outside databases

Previous GC identifers: GC06P117803 GC06P117910 GC06P115384

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DCBLD1 gene promoter:
Pax-6 SREBP-1c Lmo2 MyoD SREBP-1b SREBP-1a POU2F1 FOXC1 HFH-1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DCBLD1 promoter sequence

Search SABiosciences Chromatin IP Primers for DCBLD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCBLD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22.1 Ensembl cytogenetic band: 6q22.1 HGNC cytogenetic band: 6q22.31

DCBLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCBLD1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P117849: view genomic region (about GC identifiers)

Start:	117,774,980 bp from pter	End:	117,891,021 bp from pter
Size:	116,042 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DCBD1_HUMAN, Q8N8Z6 (See protein sequence)

Recommended Name: Discoidin, CUB and LCCL domain-containing protein 1 precursor

Size: 715 amino acids; 77920 Da

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Sequence caution: Sequence=BAC04663.1; Type=Frameshift; Positions=483; Sequence=BAC05258.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: Q5H992 Q8IYK5 Q8N7L9 Q96NH2

Alternative splicing: 2 isoforms: Q8N8Z6-1 Q8N8Z6-2

Explore the universe of human proteins at neXtProt for DCBLD1: NX_Q8N8Z6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N8Z6

DCBLD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_775945.1

ENSEMBL proteins:

ENSP00000296955 ENSP00000342422 ENSP00000391700 ENSP00000357489

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	Uscn Proteins for DCBLD1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

DCBLD1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DCBLD1 for domains About GeneDecksing

4 InterPro domains/families:

IPR004043 LCCL

IPR008979 Galactose-bd-like

IPR000859 CUB_dom

IPR000421 Coagulation_fac_5/8-C_type_dom

Graphical View of Domain Structure for InterPro Entry Q8N8Z6

ProtoNet protein and cluster: Q8N8Z6

2 Blocks protein families:

IPB000421 Coagulation factor 5/8 type C domain (FA58C)

IPB000859 CUB domain

UniProtKB/Swiss-Prot: DCBD1_HUMAN, Q8N8Z6

Similarity: Contains 1 CUB domain

Similarity: Contains 1 F5/8 type C domain

Similarity: Contains 1 LCCL domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone: DCBLD1 Browse MicroRNA Expression Plasmids
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		1 QIAGEN miScript miRNA Assays for microRNA that regulate DCBLD1:
		hsa-miR-3658
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCBLD1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DCBLD1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for DCBLD1 (Q8N8Z6^{2, 3} ENSP00000296955⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²^,³	MINT-4301418 I2D: score=1
HDAC6	ENSP00000334061⁴	STRING: ENSP00000334061
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--

DCBLD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DCBLD1
Search CenterWatch for drugs/clinical trials and news about DCBLD1 / DCBD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for DCBLD1 gene:

NM_173674.1

Unigene Cluster for DCBLD1:

Discoidin, CUB and LCCL domain containing 1

Hs.658304 [show with all ESTs]

Unigene Representative Sequence: CR749448

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000528138 ENST00000525483 ENST00000533950 ENST00000528162 ENST00000296955(uc003pxs.3)

ENST00000338728(uc003pxr.1 uc003pxt.1) ENST00000533453 ENST00000481630

ENST00000424717 ENST00000534777 ENST00000478345 ENST00000487076 ENST00000368503

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		hsa-miR-3658
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Additional cDNA sequence:

AJ420528.1 AJ420597.1 AK055462.1 AK095973.1 AK098194.1 BC035671.1 CR749448.1

9 DOTS entries:

DT.113027 DT.97781862 DT.70104320 DT.102826917 DT.121324007 DT.91743937 DT.91975878 DT.92016795

DT.117896

24/94 AceView cDNA sequences (see all 94):

AI672550 AA570058 BI324930 AL048059 NM_173674 BC035671 BX108857 AL045008

BM558496 BU615199 BM805721 AI568958 CF593883 BE783277 AI968039 AI492223

AI992301 CB961220 AJ420528 AI299997 AK095973 BU624005 AA470837 BX355226

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for DCBLD1 About this scheme

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:

ECgene alternative splicing isoforms for DCBLD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DCBLD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTTATGCG

About this image

DCBLD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

Embryoid bodies (Generation of adipoc...)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DCBLD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DCBLD1

SOURCE GeneReport for Unigene cluster: Hs.658304

SABiosciences Custom PCR Arrays for DCBLD1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for DCBLD1 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DCBLD1¹	discoidin, CUB and LCCL domain containing 1	71.19(n) 69.41(a)		421734 XM_419767.3 XP_419767.2
lizard (Anolis carolinensis)	Reptilia	DCBLD1⁶	--	47(a)	1 ↔ 1	1(185541141-185576802)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BQ390138.1²	--	72.03(n)		BQ390138.1
zebrafish (Danio rerio)	Actinopterygii	CR936484.1⁶ dcbld1⁶ (see all 3)	discoidin, CUB and LCCL domain containing 1 (see all 3)	47(a) 33(a) (see all 3)	possible ortholog 1 ↔ 1 (see all 3)	16(39324842-39328761) 20(42327988-42410596)

ENSEMBL Gene Tree for DCBLD1 (if available)
TreeFam Gene Tree for DCBLD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DCBLD1 gene

EDIL3² NRP2² MFGE8² NRP1² DCBLD2² RS1²

3 SIMAP similar genes for DCBLD1 using alignment to 3 protein entries: DCBD1_HUMAN (see all proteins):

DKFZp686L21135 F8C DCBLD2

DCBLD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs185435421^1,2		--	117801980(+)	`AATTCC/TTCACT`	1	--	us2k¹		0	--	--	--	--
rs189468923^1,2		--	117802133(+)	`TCAACA/GTATCA`	1	--	us2k¹		0	--	--	--	--
rs180692910^1,2		--	117802162(+)	`TTGAGG/TGTAAG`	1	--	us2k¹		0	--	--	--	--
rs73766211^1,2	C,F,	--	117802226(+)	`ACCTAC/TCGTTT`	1	--	us2k¹		4		WA CSA EA	242
rs144158874^1,2		--	117802289(+)	`CTTTCC/TCTACA`	1	--	us2k¹		0	--	--	--	--
rs146528580^1,2	C,	--	117802327(+)	`ATACAC/TTGAAT`	1	--	us2k¹		0	--	--	--	--
rs73766212^1,2	C,F,	--	117802413(+)	`CCCTCC/TATTTC`	1	--	us2k¹		4		WA CSA EA	242
rs185472755^1,2		--	117802617(+)	`AGGGGC/TTGTTG`	1	--	us2k¹		0	--	--	--	--
rs4946257^1,2	C,A,H,	--	117802640(+)	`CTCCAC/GGCTTC`	1	--	us2k¹		0	--	--	--	--
rs62433102^1,2	C,F,	--	117802733(+)	`GGACTA/GCAGGG`	1	--	us2k¹		8		NA CSA WA EA	367

HapMap Linkage Disequilibrium report for DCBLD1 (117774980 - 117891021 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DCBLD1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DCBLD1

DNA2.0 Custom Variant and Variant Library Synthesis for DCBLD1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DCBLD1 for disorders About MalaCards

DCBLD1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: DCBLD1 (2 documents)

Export disorders for DCBLD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DCBLD1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with DCBLD1)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
The genetic architecture of economic and political pre ferences. (PubMed id 22566634)¹ Benjamin D.J....Visscher P.M. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)² Olsen J.V....Mann M. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 285761	HGNC: 21479	AceView: DCBLD1	Ensembl:ENSG00000164465	euGenes: HUgn285761
ECgene: DCBLD1	H-InvDB: DCBLD1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DCBLD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DCBLD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DCBLD1 gene:
Search GeneIP for patents involving DCBLD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DCBLD1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DCBLD1
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DCBLD1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DCBLD1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCBLD1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DCBLD1
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	GenScript Custom Purified and Recombinant Proteins Services for DCBLD1		GenScript cDNA clones with any tag delivered in your preferred vector for DCBLD1
	GenScript Custom Assay Services for DCBLD1		GenScript Custom Superior Antibodies Services for DCBLD1
	GenScript Custom overexpressing Cell Line Services for DCBLD1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCBLD1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes DCBLD1 gene at Home site.

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DCBLD1 Gene

discoidin, CUB and LCCL domain containing 1

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DCBLD1 Gene

discoidin, CUB and LCCL domain containing 1

Aliasesfor DCBLD1 gene

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Genomic Viewsfor DCBLD1 gene

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for DCBLD1 gene

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