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KBTBD5 Gene

protein-coding GIFtS: 41

GC03P042702

kelch repeat and BTB (POZ) domain containing 5
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
FLJ32015 ^²
MGC125350 ^²
SRYP ^¹, ², ³
Sarcosynapsin ^³
sarcosynapsin ^²

Descriptions
kelch repeat and BTB (POZ) domain containing 5 ^²
kelch repeat and BTB domain containing 5 ^¹

External Ids
HGNC: 30372¹
Entrez Gene: 131377²
UniProtKB: Q2TBA0³
Ensembl: ENSG00000157119⁷

Search outside databases for aliases for KBTBD5 gene

Previous GC identifer: GC03P042687

(According to Entrez Gene, 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KBTBD5 gene

Entrez Gene cytogenetic band: 3p22.1 Ensembl cytogenetic band: 3p22.1 HGNC cytogenetic band: 3p21.33

KBTBD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P042702: (about GC identifiers)

Start:	42,702,015 bp from pter
End:	42,708,942 bp from pter
Size:	6,928 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: KBTB5_HUMAN, Q2TBA0 (See protein sequence)

Recommended Name: Kelch repeat and BTB domain-containing protein 5

Size: 621 amino acids; 69257 Da

Secondary accessions: Q86SI1 Q96MR2

Alternative splicing: 2 isoforms: Q2TBA0-1 Q2TBA0-2

REFSEQ proteins: NP_689606.2

ENSEMBL proteins:

ENSP00000287777

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KBTBD5)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for KBTBD5:

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	Sigma-Aldrich Antibodies for KBTBD5
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	Antibodies from Abcam (KBTBD5), each with their Abpromise^SM
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	Search Novus for antibodies for KBTBD5

Assays for KBTBD5:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q2TBA0

ProtoNet protein and cluster: Q2TBA0

3 Blocks protein families:

IPB000210 BTB/POZ domain

IPB001497 Methylated-DNA-[protein]-cysteine S-methyltransferase

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KBTB5_HUMAN, Q2TBA0

Similarity: Contains 1 BACK (BTB/Kelch associated) domain

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 5 Kelch repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KBTBD5)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152393

Applied Biosystems Silencer® siRNAs for KBTBD5

Sigma-Aldrich siRNA and siRNA Panels for KBTBD5

Sigma-Aldrich shRNA for KBTBD5

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_152393
Myc/DDK tagged cDNA clone in CMV expression vector: NM_152393
untagged cDNA clone in CMV expression vector: NM_152393

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_152393

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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(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 drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KBTBD5

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KBTBD5)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152393

Sigma-Aldrich siRNA and siRNA Panels for KBTBD5

Sigma-Aldrich shRNA for KBTBD5

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_152393

REFSEQ mRNAs for KBTBD5 gene:

NM_152393.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_152393

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_152393
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_152393
                                 untagged cDNA clone in CMV expression vector: NM_152393

Additional cDNA sequence:

AK056577.1 AK291294.1 AK300682.1 AY176040.1 AY177390.1 BC110491.2

2 DOTS entries:

DT.40285996 DT.431001

14 AceView cDNA sequences:

BU101535 F00401 AY177390 AY176040 AI097070 AK056577 AI274020 NM_152393

AI659482 F27785 F37359 AI037905 AW445105 AA340789

highest scoring ESTs for KBTBD5:

AI037905 AI097070 AI274020 AI659482 AJ711923 AW445105 AY176040 AY177390 F27785 F37359

Unigene Cluster for KBTBD5:

Kelch repeat and BTB (POZ) domain containing 5

Hs.350288 [show with all ESTs]

Unigene Representative Sequence: NM_152393

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000287777

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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KBTBD5 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KBTBD5

¹ / ²

1 probe-set matching KBTBD5 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
	1555044_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AACCAGAACC

SOURCE GeneReport for Unigene cluster: Hs.350288

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for KBTBD5 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	KBTBD5¹	--	kelch repeat and BTB (POZ) domain containing 5	89.74(n) 94.01(a)	514526 NM_001015598.1 NP_001015598.1
mouse (Mus musculus)	Kbtbd5^{1, 5}	9⁵	kelch repeat and BTB (POZ) domain containing 5^{1, 5}	86.75(n)¹ 92.73(a)¹	72330¹ NM_028202.2¹ NP_082478.1¹ AA790638⁵ AK009491⁵ (see all 11)
chicken (Gallus gallus)	KBTBD5¹	--	kelch repeat and BTB (POZ) domain containing 5	71.1(n) 72.08(a)	420389 XM_418495.2 XP_418495.2
zebrafish (Danio rerio)	kbtbd5¹	--	kelch repeat and BTB (POZ) domain containing 5	62.82(n) 60.07(a)	553257 XM_684087.3 XP_689179.2

About this table Species with no ortholog for KBTBD5

ENSEMBL Gene Tree for KBTBD5

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

Paralogs for KBTBD5 gene

KBTBD10² KBTBD8² KBTBD3² CCIN²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/41 NCBI SNPs in KBTBD5 are shown (see all 41 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 47)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs339703^1,2	A,C,F,H	42701068(-)	`TCTAGG/AGAGTG`	1	--	ng5¹		13		NA EU EA WA	1154
	rs123509^1,2	C,F,H,O	42708472(-)	`CAGGCG/ACAGCA`	1	R/C	mis¹		13		MN EU EA WA NA	1236
	rs6805421^1,2	A,C,F,H	42703148(+)	`CTCCAG/ACCAGG`	1	S/N	mis¹		4		EU EA WA	418
	rs3888652^1,2	A,C,F	42701722(-)	`AAGCAC/TTGGAG`	1	--	ng5¹		4		EA NA	214
	rs3890974^1,2	A,C	42701647(-)	`TCCCCC/GCCGGA`	1	--	ng5¹ trp³		0	--	--	--	--
	rs35033264^1,2	F	42702438(+)	`GCGGCA/GCACCG`	1	A/A	syn¹		1		NA	78
	rs339701^1,2	A,C,F,H,O	42705652(-)	`CCAAAG/CTCAAC`	1	--	int¹		8		MN NA EU EA WA	740
	rs339702^1,2	C,F,H	42704067(-)	`ccccaC/Gttaca`	1	--	int¹		8		EU EA WA	806
	rs339700^1,2	A,C	42705896(-)	`GTCCAA/GCTGTC`	1	--	int¹		0	--	--	--	--
	rs9822441^1,2	F,H	42705974(+)	`GCAGTT/ATGGAG`	1	--	int¹		4		EU EA WA	366

About this table

HapMap Linkage Disequilibrium images for KBTBD5 (up to first 250kb)

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

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

4 PubMed articles for KBTBD5 gene:

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )⁴ Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
About This Section

Entrez Gene: 131377	HGNC: 30372	AceView: KBTBD5	Ensembl:ENSG00000157119	euGenes: HUgn131377
ECgene: KBTBD5	H-InvDB: KBTBD5

(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

Licensable Technologies for KBTBD5
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for KBTBD5:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for KBTBD5-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for KBTBD5		Antibodies for KBTBD5
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	"Your Favorite Gene" Pathways		feedback

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	Recombinant & Natural Proteins

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

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KBTBD5 Gene

protein-coding GIFtS: 41

Aliases &
Descriptions
for KBTBD5

Summaries
for KBTBD5

Genomic Location
for KBTBD5

Proteins
for KBTBD5

Protein Domains/
Families
for KBTBD5

Gene Function
for KBTBD5

Pathways & Interactions
for KBTBD5

Drugs & Compounds
for KBTBD5

Transcripts
for KBTBD5

Expression
for KBTBD5

Orthologs
for KBTBD5

Paralogs
for KBTBD5

SNPs/Variants
for KBTBD5

Disorders & Mutations
for KBTBD5

Medical News
for KBTBD5

Publications
for KBTBD5

Search for KBTBD5

Genome Databases showing KBTBD5

Other Databases showing KBTBD5

Specialized Databases showing KBTBD5

Licensable Technologies
for KBTBD5

Services
for KBTBD5

Gene Index: 3 5 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

KBTBD5 Gene

protein-coding GIFtS: 41

Aliases & Descriptionsfor KBTBD5

Summariesfor KBTBD5

Genomic Locationfor KBTBD5

Proteinsfor KBTBD5

Protein Domains/Familiesfor KBTBD5

Gene Functionfor KBTBD5

Pathways & Interactionsfor KBTBD5

Drugs & Compoundsfor KBTBD5

Transcriptsfor KBTBD5

Expression for KBTBD5

Orthologsfor KBTBD5

Paralogsfor KBTBD5

SNPs/Variantsfor KBTBD5

Disorders & Mutationsfor KBTBD5

Medical Newsfor KBTBD5

Publicationsfor KBTBD5

Search for KBTBD5

Genome Databases showing KBTBD5

Other Databases showing KBTBD5

Specialized Databases showing KBTBD5

Licensable Technologiesfor KBTBD5

Servicesfor KBTBD5

Gene Index: 3 5 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

Aliases &
Descriptions
for KBTBD5

Summaries
for KBTBD5

Genomic Location
for KBTBD5

Proteins
for KBTBD5

Protein Domains/
Families
for KBTBD5

Gene Function
for KBTBD5

Pathways & Interactions
for KBTBD5

Drugs & Compounds
for KBTBD5

Transcripts
for KBTBD5

Expression
for KBTBD5

Orthologs
for KBTBD5

Paralogs
for KBTBD5

SNPs/Variants
for KBTBD5

Disorders & Mutations
for KBTBD5

Medical News
for KBTBD5

Publications
for KBTBD5

Licensable Technologies
for KBTBD5

Services
for KBTBD5