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BAHCC1 Gene

protein-coding GIFtS: 46

GC17P076989

BAH domain and coiled-coil containing 1
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
BAHD2 ^¹, ², ³
FLJ23058 ^²
KIAA1447 ^¹, ², ³

Descriptions
BAH domain and coiled-coil containing 1 ^²
BAH domain-containing protein 2 ^³
Bromo adjacent homology domain-containing protein 2 ^³

External Ids
HGNC: 29279¹
Entrez Gene: 57597²
UniProtKB: Q9P281³
Ensembl: ENSG00000171282⁷

Search outside databases for aliases for BAHCC1 gene

(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 BAHCC1 gene

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

BAHCC1 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 17 GeneLoc Exon Structure

GeneLoc location for GC17P076989: (about GC identifiers)

Start:	76,987,561 bp from pter
End:	77,047,953 bp from pter
Size:	60,393 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_024871.11

(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: BAHC1_HUMAN, Q9P281 (See protein sequence)

Recommended Name: BAH and coiled-coil domain-containing protein 1

Size: 2608 amino acids; 276932 Da

Secondary accessions: Q5U629

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001073988.2

ENSEMBL proteins:

ENSP00000303486

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 recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

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

Antibodies for BAHCC1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for BAHCC1

Assays for BAHCC1:

	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 Q9P281

ProtoNet protein and cluster: Q9P281

UniProtKB/Swiss-Prot: BAHC1_HUMAN, Q9P281

Similarity: Contains 1 BAH domain

(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 (BAHCC1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Applied Biosystems Silencer® siRNAs for BAHCC1

Sigma-Aldrich siRNA for BAHCC1

Browse shRNA at Sigma-Aldrich

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_001080519
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001080519
untagged cDNA clone in CMV expression vector: NM_001080519

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001080519

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bahcc1):

behavior/neurological

lethality-prenatal/perinatal

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA 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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3 Interacting proteins for BAHCC1 (ENSP00000303486³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNRC18B	ENSP00000329902³	STRING (score=.801)
FAM184B	ENSP00000265018³	STRING (score=.712)
KIAA1409	ENSP00000339276³	STRING (score=.712)

About this table

(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)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BAHCC1

(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)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BAHCC1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Sigma-Aldrich siRNA for BAHCC1

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001080519

REFSEQ mRNAs for BAHCC1 gene:

NM_001080519.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001080519

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001080519
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001080519
                                 untagged cDNA clone in CMV expression vector: NM_001080519

Additional cDNA sequence:

AB040880.1 AF086116.1 AK026711.1 AK056636.1 AL713748.1 BC033222.1 BC050673.2

8 DOTS entries:

DT.108933 DT.95285736 DT.100001365 DT.100751932 DT.120981871 DT.75182032 DT.91717972 DT.95235791

24/113 AceView cDNA sequences (see all 113 ):

BM709974 BU726956 BF195603 BM929976 BM773012 BM747650 AB040880 CK820804

AI083725 BQ222412 BU786154 BF434756 AW207078 BU153341 AI919141 BM758388

BM146832 BM546680 AL713748 BU625033 BM146788 BF196116 BF110902 BU554038

highest scoring ESTs for BAHCC1:

AI700701 AA322851 AA441927 AA642771 AA702232 AF086116 AI083725 AI281979 AI366722 AI375539

Unigene Cluster for BAHCC1:

BAH domain and coiled-coil containing 1

Hs.514580 [show with all ESTs]

Unigene Representative Sequence: NM_001080519

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for BAHCC1

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11a	·	11b
SP1:									-
SP2:																	-
SP3:
SP4:																									-
SP5:

About this scheme

ECgene alternative splicing isoforms for BAHCC1

1 Ensembl transcript including schematic representation:

ENST00000307745

(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 )
About This Section

BAHCC1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BAHCC1

¹ / ² / ³

5 probe-sets matching BAHCC1 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
47638_at²^{, 3}	U95-B	1	1.00	1.00	0.81	1.20	AI700701	1.00	1.00	1.00	1
72436_at²^{, 3}	U95-E	2	0.88	0.96	0.78	0.81	AI989401	0.80	1.00	0.91	1
219218_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_024696	0.20	1.00	0.72	1
219218_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1559075_s_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

About this table

Data from

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

CGAP SAGE TAG: CTGAGCCACT

SOURCE GeneReport for Unigene cluster: Hs.514580

(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 BAHCC1 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BAHCC1¹	--	BAH domain and coiled-coil containing 1	84.12(n) 81.65(a)	483361 XM_540480.2 XP_540480.2
cow (Bos taurus)	BAHCC1¹	--	BAH domain and coiled-coil containing 1	83.19(n) 80.56(a)	786025 XM_001253843.1 XP_001253844.1
rat (Rattus norvegicus)	LOC679577¹	--	similar to CG31151-PB, isoform B	58.81(n) 53.73(a)	679577 XM_001053564.1 XP_001053564.1
mouse (Mus musculus)	Bahcc1^{1, 5}	11⁵	BAH domain and coiled-coil containing 1^{1, 5}	83.33(n)¹ 85.28(a)¹	268515¹ NM_198423.2¹ NP_940815.2¹ AB257855⁵ AB257860⁵ (see all 16)
chicken (Gallus gallus)	BAHCC1¹	--	BAH domain and coiled-coil containing 1	70.17(n) 63.5(a)	776014 XM_001235582.1 XP_001235583.1

About this table Species with no ortholog for BAHCC1

ENSEMBL Gene Tree for BAHCC1

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

Paralogs for BAHCC1 gene

TNRC18B² TNRC18C²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/410 NCBI SNPs in BAHCC1 are shown (see all 410 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 125)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7213444^1,2	A,C,F,H	77028902(+)	`ACCCTG/ACCGAG`	1	A/T	mis¹ ese³		2		EA	178
	rs14640^1,2	A,C,F,H	77047701(+)	`CCTTTT/CTTTTT`	1	--	ut3¹ trp³		10		EA MN EU WA	2490
	rs2291018^1,2	C,F	77046797(+)	`CCCTTT/CCTGGG`	1	--	ut3¹ ese³		1		EA	1484
	rs2291021^1,2	C,F	77047024(+)	`CCCAGG/AGAATT`	1	--	ut3¹ ese³		4		EA NA	1608
	rs7406823^1,2	A,C	77047266(+)	`CCCTGC/TACCCC`	1	--	ut3¹ ese³		0	--	--	--	--
--	rs6565572^1,2	A,C	77048431(+)	`GGGGTA/GGGGGA`	1	--	ng3¹		0	--	--	--	--
	rs2291019^1,2	F	77046946(+)	`AGGGTC/TCCCCT`	1	--	ut3¹ ese³		1		EA	1502
--	rs8074440^1,2	A	76985805(+)	`AAAAAA/CAACAA`	1	--	ng5¹		0	--	--	--	--
	rs12601317^1,2	C	77039111(+)	`TGCACA/GCCGGG`	1	T/A	mis¹ ese³		0	--	--	--	--
	rs11655888^1,2	C	77004006(+)	`AACCTC/TGTTTT`	1	R/C	mis¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for BAHCC1 (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

7 PubMed articles for BAHCC1 gene:

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)^{2, 3, 4} Nagase T....Ohara O. (2000)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)⁴ Matsuoka S.... Elledge S.J. (2007)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)⁴ Zody M.C.... Nusbaum C. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)³ Ota T....Sugano S. (2004)
Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)³ Nakayama M....Ohara O. (2002)
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)

(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: 57597	HGNC: 29279	AceView: KIAA1447	Ensembl:ENSG00000171282	euGenes: HUgn57597
ECgene: BAHCC1	H-InvDB: BAHCC1

(According to HUGE)
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HUGE: KIAA1447

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for BAHCC1
(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 BAHCC1:

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 BAHCC1-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 BAHCC1		Browse antibodies at Sigma-Aldrich
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	Recombinant & Natural Proteins

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BAHCC1 Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for BAHCC1

Summaries
for BAHCC1

Genomic Location
for BAHCC1

Proteins
for BAHCC1

Protein Domains/
Families
for BAHCC1

Gene Function
for BAHCC1

Pathways & Interactions
for BAHCC1

Drugs & Compounds
for BAHCC1

Transcripts
for BAHCC1

Expression
for BAHCC1

Orthologs
for BAHCC1

Paralogs
for BAHCC1

SNPs/Variants
for BAHCC1

Disorders & Mutations
for BAHCC1

Medical News
for BAHCC1

Publications
for BAHCC1

Search for BAHCC1

Genome Databases showing BAHCC1

Other Databases showing BAHCC1

Specialized Databases showing BAHCC1

Licensable Technologies
for BAHCC1

Services
for BAHCC1

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

BAHCC1 Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor BAHCC1

Summariesfor BAHCC1

Genomic Locationfor BAHCC1

Proteinsfor BAHCC1

Protein Domains/Familiesfor BAHCC1

Gene Functionfor BAHCC1

Pathways & Interactionsfor BAHCC1

Drugs & Compoundsfor BAHCC1

Transcriptsfor BAHCC1

Expression for BAHCC1

Orthologsfor BAHCC1

Paralogsfor BAHCC1

SNPs/Variantsfor BAHCC1

Disorders & Mutationsfor BAHCC1

Medical Newsfor BAHCC1

Publicationsfor BAHCC1

Search for BAHCC1

Genome Databases showing BAHCC1

Other Databases showing BAHCC1

Specialized Databases showing BAHCC1

Licensable Technologiesfor BAHCC1

Servicesfor BAHCC1

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 BAHCC1

Summaries
for BAHCC1

Genomic Location
for BAHCC1

Proteins
for BAHCC1

Protein Domains/
Families
for BAHCC1

Gene Function
for BAHCC1

Pathways & Interactions
for BAHCC1

Drugs & Compounds
for BAHCC1

Transcripts
for BAHCC1

Expression
for BAHCC1

Orthologs
for BAHCC1

Paralogs
for BAHCC1

SNPs/Variants
for BAHCC1

Disorders & Mutations
for BAHCC1

Medical News
for BAHCC1

Publications
for BAHCC1

Licensable Technologies
for BAHCC1

Services
for BAHCC1