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B9D1 Gene

protein-coding GIFtS: 46
GCID: GC17M019244

B9 Protein Domain 1

See B9D1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
B9 Protein Domain 1¹ ²		MKS9² ⁵
MKSR1² ³ ⁵		B9²
Endothelial Precursor Protein B9¹ ²		EPPB9²
MKS1-Related Protein 1² ³		B9 Domain-Containing Protein 1²

External Ids:	HGNC: 24123¹	Entrez Gene: 27077²	Ensembl: ENSG00000108641⁷	OMIM: 614144⁵	UniProtKB: Q9UPM9³

Export aliases for B9D1 gene to outside databases

Previous GC identifers: GC17M019188 GC17M018626

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

Entrez Gene summary for B9D1 Gene:

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in

expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated

with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome

17. Three alternatively spliced transcript variants that encode different proteins have been described for this

gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for B9D1 Gene:

B9D1 (B9 protein domain 1) is a protein-coding gene. Diseases associated with B9D1 include meckel syndrome 9, and b9d1-related meckel syndrome. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is B9D2.

UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9

Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and

acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.

Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000017.10 NT_010718.17 NC_018928.2

Regulatory elements:

Regulatory transcription factor binding sites in the B9D1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): B9D1 promoter sequence

Search Chromatin IP Primers for B9D1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B9D1

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

Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2

B9D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B9D1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M019244: view genomic region (about GC identifiers)

Start:	19,240,867 bp from pter	End:	19,281,495 bp from pter
Size:	40,629 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9 (See protein sequence)

Recommended Name: B9 domain-containing protein 1

Size: 204 amino acids; 22775 Da

Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)

Secondary accessions: Q9BU22

Alternative splicing: 2 isoforms: Q9UPM9-1 Q9UPM9-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B9D1: NX_Q9UPM9

Explore proteomics data for B9D1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys180

Modification sites at PhosphoSitePlus

See B9D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001230402.1 NP_001230404.1 NP_056496.1

ENSEMBL proteins:

ENSP00000459857 ENSP00000433359 ENSP00000378977 ENSP00000261499 ENSP00000460939

ENSP00000378978 ENSP00000458525 ENSP00000268841 ENSP00000410835 ENSP00000462565

ENSP00000463165 ENSP00000463255

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

1 InterPro protein domain:

IPR010796 B9_dom

Graphical View of Domain Structure for InterPro Entry Q9UPM9

ProtoNet protein and cluster: Q9UPM9

UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9

Similarity: Belongs to the B9D family

Similarity: Contains 1 B9 domain

Find genes that share domains with B9D1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: B9D1_HUMAN, Q9UPM9

Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and

acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.

Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008158	hedgehog receptor activity	ISS	--

Find genes that share ontologies with B9D1 About GenesLikeMe

Phenotypes:
Selected MGI mutant phenotypes (inferred from 3 alleles) (MGI details for B9d1) (see all 20):

adipose tissue	behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size/body	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging

Find genes that share phenotypes with B9D1 About GenesLikeMe

Animal Models:
MGI mouse knock-out B9d1^{tm1d(EUCOMM)Wtsi} for B9D1

genOway: Develop your customized and physiologically relevant rodent model for B9D1

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

B9D1_HUMAN, Q9UPM9: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.

Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
extracellular	3
cytosol	1
nucleus	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IDA	19208769
GO:0016020	membrane	IEA	--
GO:0035869	ciliary transition zone	ISS	--
GO:0036038	TCTN-B9D complex	ISS	--

Find genes that share ontologies with B9D1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for B9D1
Interactions:

Search GeneGlobe Interaction Network for B9D1

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for B9D1 (Q9UPM9³ ENSP00000261499⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EXOSC10	Q01780³, ENSP00000366135⁴	I2D: score=3 STRING: ENSP00000366135
MRPS35	P82673³	I2D: score=5
PAH	P00439³	I2D: score=5
B9D2	ENSP00000243578⁴	STRING: ENSP00000243578
CEP290	ENSP00000308021⁴	STRING: ENSP00000308021

About this table

Gene Ontology (GO): Selected biological process terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0007224	smoothened signaling pathway	ISS	--
GO:0032880	regulation of protein localization	IEA	--
GO:0035051	cardiocyte differentiation	IEA	--
GO:0042384	cilium assembly	ISS	--

Find genes that share ontologies with B9D1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Browse Tocris compounds for B9D1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for B9D1 gene (8 alternative transcripts):

NM_001243473.1 NM_001243475.1 NM_015681.3 XM_005256605.1 XM_005256607.2 XM_005256608.1 XM_005256609.1 XM_005256610.1

Unigene Cluster for B9D1:

B9 protein domain 1

Hs.462445 [show with all ESTs]

Unigene Representative Sequence: AK293815

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

ENST00000575403(uc010cqm.1) ENST00000461069 ENST00000395615 ENST00000261499(uc002gvk.4)

ENST00000477478(uc010vyr.2 uc010vys.2) ENST00000395616 ENST00000575478

ENST00000268841(uc010cqn.2) ENST00000440841 ENST00000477683 ENST00000574508

ENST00000582857 ENST00000487415 ENST00000468679 ENST00000476298

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Additional mRNA sequence:

AB030506.1 AK293815.1 AK297782.1 AK309320.1 BC002944.2

9 DOTS entries:

DT.440966 DT.100752236 DT.86842265 DT.95266441 DT.92420107 DT.91967891 DT.97801922 DT.95266450

DT.95266451

Selected AceView cDNA sequences (see all 84):

CD676260 BQ012937 CN479141 CK819721 BE745789 CA776227 BU684397 AA243643

BM129815 BC002944 CR606056 BQ422055 BM976857 AW292166 AA256668 BU171805

AB030506 AA256667 BX389591 BI825552 BX507706 AI300844 CA389709 AI818169

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for B9D1 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for B9D1

(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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

B9D1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGGAAACTGG

About this image

B9D1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

B9D1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.462445

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In Situ
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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 animals.

Orthologs for B9D1 gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	B9d1^{1 , 5}	B9 protein domain 1^{1, 5}	87.91(n)¹ 94.61(a)¹		11 (37.96 cM)⁵ 27078¹ NM_013717.2¹ NP_038745.1¹ 61505144⁵
chicken (Gallus gallus)	Aves	B9D1¹	B9 protein domain 1	74.21(n) 80.53(a)		416525 XM_004945217.1 XP_004945274.1
lizard (Anolis carolinensis)	Reptilia	B9D1⁶	B9 protein domain 1	68(a)	1 ↔ 1	GL343618.1(403900-407663)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23494²	Xenopus laevis transcribed sequence with moderate similarity to protein refNP_056496.1 (H.sapiens) B9 protein [Homo sapiens] less	77.74(n)		BJ032226.1
zebrafish (Danio rerio)	Actinopterygii	b9d1¹	B9 protein domain 1	73.23(n) 81.91(a)		554150 NM_001024373.1 NP_001019544.1
fruit fly (Drosophila melanogaster)	Insecta	CG14870¹	CG14870	49.27(n) 35.71(a)		41888 NM_142213.2 NP_650470.1
worm (Caenorhabditis elegans)	Secernentea	mksr-1¹	mksr-1	43.78(n) 29.52(a)		186954 NM_075802.1 NP_508203.1

ENSEMBL Gene Tree for B9D1 (if available)
TreeFam Gene Tree for B9D1 (if available)

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

Paralogs for B9D1 gene

B9D2²

Find genes that share paralogs with B9D1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115667701^1,2	C,F	--	19228960(+)	`GGTGGC/TTTGCT`	1	--	ds500¹		1		WA	118
rs74725000^1,2	C,F	--	19229113(+)	`GAGGCG/AGCTGG`	1	--	ds500¹		1		NA	120
rs80078275^1,2	C	--	19229120(+)	`CTGGGA/GGACCC`	1	--	ds500¹		0	--	--	--	--
rs143752817^1,2		--	19229295(+)	`TGCCCA/GTTCAG`	1	--	ut3¹		0	--	--	--	--
rs190187092^1,2		--	19229344(+)	`TCTTGC/GTTACG`	1	--	ut3¹		0	--	--	--	--
rs11652712^1,2	C,F,H	--	19229388(+)	`CCCGCA/GGAAGT`	1	--	ut3¹		24		NS EA NA WA CSA	2140
rs78797942^1,2	C,F	--	19229413(+)	`AGTGAC/ATCAGG`	1	--	ut3¹		1		EA	120
rs73980009^1,2	C,F	--	19229478(+)	`GGTGGC/GTATGA`	1	--	spa¹		2		WA	120
rs72836802^1,2	C,F	--	19229511(+)	`AGCATA/GGATTT`	1	--	int¹		2		NA EA	240
rs146850709^1,2		--	19229531(+)	`AGGCCA/TGGAAT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for B9D1 (19240867 - 19281495 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for B9D1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv907864	CNV	Loss	21882294
nsv833393	CNV	Gain+Loss	17160897

Human Gene Mutation Database (HGMD): B9D1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing B9D1

DNA2.0 Custom Variant and Variant Library Synthesis for B9D1

(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, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 614144
OMIM disorders: 614209
UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9

Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder characterized by a combination of renal cysts and

variably associated features including developmental anomalies of the central nervous system (typically

encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note=The disease is caused by mutations

affecting the gene represented in this entry

5 diseases for B9D1:
About MalaCards

meckel syndrome 9 b9d1-related meckel syndrome meckel syndrome 1 encephalocele

joubert syndrome 8

3 inferred disease relationships from the University of Copenhagen DISEASES database for B9D1:

Nephronophthisis Cystic kidney Polydactyly

Find genes that share disorders with B9D1 About GenesLikeMe

Export disorders for B9D1 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 B9D1 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with B9D1)

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. (PubMed id 21493627)^{1, 2, 3} Hopp K.... Harris P.C. (Hum. Mol. Genet. 2011)
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PubMed id 19208769)^{1, 2} Bialas N.J.... Leroux M.R. (J. Cell Sci. 2009)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)¹ Woods N.T....Monteiro A.N. (Sci Signal 2012)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (amp 2011)
Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)¹ Emanuele M.J....Elledge S.J. (Cell 2011)
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. (PubMed id 18337471)¹ Williams C.L....Yoder B.K. (Mol. Biol. Cell 2008)
A protein interaction framework for human mRNA degradation. (PubMed id 15231747)¹ Lehner B. and Sanderson C.M. (Genome Res. 2004)
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. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 27077	HGNC: 24123	AceView: EPPB9	Ensembl:ENSG00000108641	euGenes: HUgn27077
ECgene: B9D1	H-InvDB: B9D1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for B9D1	Pharmacogenomics, SNPs, Pathways

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