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CYB5D1 Gene

protein-coding GIFtS: 41

GC17P007704

cytochrome b5 domain containing 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
cytochrome b5 domain containing 1¹ ²
FLJ32499¹ ²
cytochrome b5 domain-containing protein 1²

External Ids:	HGNC: 26516¹	Entrez Gene: 124637²	Ensembl: ENSG00000182224⁷	UniProtKB: Q6P9G0³

Export aliases for CYB5D1 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYB5D1 gene promoter:
         c-Myb   c-Myc   Max   ATF6   Pax-2   p300   ARP-1   Arnt   XBP-1   GATA-1
         Other transcription factors

Search SABiosciences Chromatin IP Primers for CYB5D1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CYB5D1

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

Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1

CYB5D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5D1 gene location

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P007704: view genomic region (about GC identifiers)

Start:	7,655,777 bp from pter
End:	7,660,312 bp from pter
Size:	4,536 bases
Orientation:	plus strand

1 alternative location:

Chr17+ 7,761,064-7,765,598

RefSeq DNA sequence:

NC_000017.10 NT_010718.16

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CB5D1_HUMAN, Q6P9G0 (See protein sequence)

Recommended Name: Cytochrome b5 domain-containing protein 1

Size: 228 amino acids; 26689 Da

Secondary accessions: Q96DM7

Alternative splicing: 2 isoforms: Q6P9G0-1 Q6P9G0-2

Explore the universe of human proteins at neXtProt for CYB5D1: NX_Q6P9G0

REFSEQ proteins: NP_653208.2

ENSEMBL proteins:

ENSP00000331479

Human Recombinant Proteins

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Antibodies for CYB5D1:

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Assays for CYB5D1:

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	Browse R&D Systems for biochemical assays
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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

CYB5D1 for domains About GeneDecksing

1 InterPro domain/family:

IPR001199 Cyt_B5

Graphical View of Domain Structure for InterPro Entry Q6P9G0

ProtoNet protein and cluster: Q6P9G0

1 Blocks protein family: IPB001199 Cytochrome b5

UniProtKB/Swiss-Prot: CB5D1_HUMAN, Q6P9G0

Similarity: Belongs to the cytochrome b5 family

Similarity: Contains 1 cytochrome b5 heme-binding domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for CYB5D1 Sigma-Aldrich shRNA for CYB5D1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CYB5D1 OriGene shRNA RFP (see all 3): CYB5D1 OriGene basic RS shRNA (see all 3): CYB5D1 OriGene siRNA: CYB5D1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CYB5D1

miRNA:		Sigma-Aldrich microRNA Mimics for CYB5D1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CYB5D1
		3 SABiosciences Assays for microRNAs that regulate CYB5D1:
		hsa-miR-627 hsa-miR-605 hsa-miR-590-3p

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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		OriGene GFP tagged cDNA clones in CMV expression vector: CYB5D1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CYB5D1 OriGene untagged cDNA clones in CMV expression vector: CYB5D1 OriGene 3'-UTR clone: CYB5D1 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CYB5D1
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Cell
Lines:

GenScript Custom overexpressing Cell Line Services for CYB5D1

2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0020037	heme binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

CYB5D1 for ontologies About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

SABiosciences Custom Pathway-Focused PCR Arrays for CYB5D1

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CYB5D1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYB5D1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for CYB5D1 Sigma-Aldrich shRNA for CYB5D1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CYB5D1 OriGene shRNA RFP (see all 3): CYB5D1 OriGene basic RS shRNA (see all 3): CYB5D1 OriGene siRNA: CYB5D1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CYB5D1

miRNA:		Sigma-Aldrich microRNA Mimics for CYB5D1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CYB5D1
		3 SABiosciences Assays for microRNAs that regulate CYB5D1:
		hsa-miR-627 hsa-miR-605 hsa-miR-590-3p

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: CYB5D1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CYB5D1 OriGene untagged cDNA clones in CMV expression vector: CYB5D1 OriGene 3'-UTR Clone: CYB5D1 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CYB5D1

Primers:		OriGene genome-wide validated SYBR primer pairs: CYB5D1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CYB5D1: PPH08753A

REFSEQ mRNAs for CYB5D1 gene:

NM_144607.4

Additional cDNA sequence:

AK022811.1 AK057061.1 AK095413.1 AK124743.1 AK125598.1 AK289520.1 BC060779.1

8 DOTS entries:

DT.455686 DT.100693757 DT.120935814 DT.75169263 DT.95094182 DT.120935816 DT.120935850 DT.92070137

24/255 AceView cDNA sequences (see all 255):

BQ013626 AA594247 CF529968 NM_203411 AI151324 BQ649062 BQ721168 BM696116

CB154770 BG222892 AW952285 BM968430 AI359849 BC057812 BU734395 BQ013215

BQ012561 BQ015649 BC035897 BC009994 C00123 AI954619 AI671664 BQ063399

highest scoring ESTs for CYB5D1:

AA626266 AK022811 AK125598 AU127373 AW844671 BC060779 BE884032 BG013405 BI011858 BI092918

Unigene Cluster for CYB5D1:

Cytochrome b5 domain containing 1

Hs.27475 [show with all ESTs]

Unigene Representative Sequence: NM_144607

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CYB5D1 (see all 6)

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

About this scheme

ECgene alternative splicing isoforms for CYB5D1
1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000332439(uc010cnn.1 uc002gjb.3)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CYB5D1 expression in normal and diseased human tissues

¹ / ² / ³

4 probe-sets matching CYB5D1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
44008_at²^{, 3}	U95-B	1	1.00	1.00	1.00	1.00	AI921877	0.60	1.00	0.82	1
226833_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI921877	0.60	1.00	0.82	1
1552711_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
226833_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

CYB5D1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

CYB5D1 gene electronic northern expression

About these images

CGAP SAGE TAG: CATTTTCCAG

SOURCE GeneReport for Unigene cluster: Hs.27475

Primers:		OriGene genome-wide validated SYBR primer pairs: CYB5D1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CYB5D1: PPH08753A

SABiosciences Custom PCR Arrays for CYB5D1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CYB5D1 gene from 5/9 species (see all 9)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC607970¹	--	similar to CG15429-PA	88.01(n) 88.16(a)	607970 XM_844839.1 XP_849932.1
chimpanzee (Pan troglodytes)	LOC455210¹	--	similar to cytochrome b5 domain containing 1	99.85(n) 100(a)	455210 XM_511953.2 XP_511953.1
cow (Bos taurus)	LOC507171¹	--	similar to cytochrome b5 domain containing 1	89.04(n) 87.72(a)	507171 XM_583737.3 XP_583737.3
rat (Rattus norvegicus)	RGD1559567¹	--	similar to novel protein	83.77(n) 84.65(a)	363629 XM_343918.3 XP_343919.1
mouse (Mus musculus)	Cyb5d1^{1 , 5}	11 (42.59 cM)⁵	cytochrome b5 domain containing 1^{1, 5}	81.87(n)¹ 83.33(a)¹	327951¹ NM_001045525.1¹ NP_001038990.1¹ BC099556⁵

About this table Species with no ortholog for CYB5D1

ENSEMBL Gene Tree for CYB5D1 (if available)

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

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs10112^1,2	C	7765524(-)	`GTGAAA/CAAGAT`	1	--	ut3¹		0	--	--	--	--
rs3840058^1,2	C	7764161(+)	`TCTCC-/TGACCT`	1	--	ut3¹ trp³		2		NA	4
rs8080692^1,2	C,H,	7764597(+)	`TAGGCG/ATTTTC`	1	--	ut3¹ ese³		11		NS EA NA WA	438
rs9913060^1,2	H	7765889(+)	`tgtttC/Ttacta`	1	--	ng3¹		4		NS EA	416
rs55869181^1,2	--	7763640(+)	`TTTTA-/ATTTTT`	1	--	ut3¹		0	--	--	--	--
rs57736014^1,2	--	7763477(+)	`TTTTT-/TGCCCC`	1	--	ut3¹		0	--	--	--	--
rs59836308^1,2	--	7764411(+)	`GGGGGA/TAATGG`	1	--	ut3¹		0	--	--	--	--
rs73977771^1,2	--	7764248(+)	`TTTGGC/TGAGGG`	1	--	ut3¹		0	--	--	--	--
rs74578237^1,2	C,F,	7763413(+)	`AGTGCG/TTCATT`	1	--	ut3¹		1		EA	88
rs76080656^1,2	C,F,	7764954(+)	`CACATC/TCAGTC`	1	--	ut3¹		1		EA	88

About this table

HapMap Linkage Disequilibrium images for CYB5D1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYB5D1: --

QIAGEN SeqTarget long-range PCR primers for resequencing CYB5D1

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

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

3 PubMed articles for CYB5D1 gene integrated from 7 sources:
(articles sorted by number of sources associating them with CYB5D1)

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(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: 124637	HGNC: 26516	AceView: FLJ32499andLOC92162andJMJD3	Ensembl:ENSG00000182224	euGenes: HUgn124637
ECgene: CYB5D1	H-InvDB: CYB5D1

(According to HUGE)
About This Section

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

Intellectual Property for CYB5D1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

About This Section

Patent Information for CYB5D1 gene:
Search GeneIP for patents involving CYB5D1

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

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

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	miRNA Expression Plasmids

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CYB5D1
	SeqTarget long-range PCR primers for resequencing CYB5D1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CYB5D1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CYB5D1

	GenScript Custom Purified and Recombinant Proteins Services for CYB5D1		GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for CYB5D1
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CYB5D1 Gene

protein-coding GIFtS: 41

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CYB5D1 Gene

protein-coding GIFtS: 41

Aliases & Descriptionsfor CYB5D1 gene

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Genomic Viewsfor CYB5D1 gene

Proteinsfor CYB5D1 gene

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