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JOSD1 Gene

protein-coding GIFtS: 50

GC22M037407

Josephin domain 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
KIAA0063 ^¹, ², ³
OTTHUMP00000028810 ^²
dJ508I15.2 ^²

Descriptions
Josephin domain containing 1 ^²
Josephin domain-containing 1 ^³

External Ids
HGNC: 28953¹
Entrez Gene: 9929²
UniProtKB: Q15040³
Ensembl: ENSG00000100221⁷

Search outside databases for aliases for JOSD1 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)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JOSD1 gene

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1

JOSD1 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 22 GeneLoc Exon Structure

GeneLoc location for GC22M037407: (about GC identifiers)

Start:	37,411,572 bp from pter
End:	37,426,405 bp from pter
Size:	14,834 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(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: JOS1_HUMAN, Q15040 (See protein sequence)

Recommended Name: Josephin-1

Size: 202 amino acids; 23198 Da

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_055691.1

ENSEMBL proteins:

ENSP00000216039

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (JOSD1)

OriGene Purified Recombinant Human Protein: JOSD1

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348

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Antibodies for JOSD1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for JOSD1
	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 JOSD1

Assays for JOSD1:

	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 Q15040

ProtoNet protein and cluster: Q15040

UniProtKB/Swiss-Prot: JOS1_HUMAN, Q15040

Similarity: Contains 1 Josephin 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 (JOSD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014876

Applied Biosystems Silencer® siRNAs for JOSD1

Sigma-Aldrich siRNA for JOSD1

Sigma-Aldrich shRNA for JOSD1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for JOSD1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_014876
Myc/DDK tagged cDNA clone in CMV expression vector: NM_014876
untagged cDNA clones in CMV expression vector (see all 2): NM_014876

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_014876

(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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1 Interacting protein for JOSD1 (ENSP00000216039³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KIAA1257	ENSP00000265068³	STRING (score=.712)

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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)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JOSD1

(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 (JOSD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014876

Sigma-Aldrich siRNA for JOSD1

Sigma-Aldrich shRNA for JOSD1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_014876

REFSEQ mRNAs for JOSD1 gene:

NM_014876.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_014876

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014876
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014876
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_014876

Additional cDNA sequence:

AK291827.1 BC015026.2 BX538323.1 CR456473.1 CR456923.1 CR596979.1 D31884.1

13 DOTS entries:

DT.454568 DT.100645098 DT.95171932 DT.100893826 DT.120671404 DT.100893829 DT.120671397 DT.65286679

DT.100652028 DT.120671398 DT.91765621 DT.95171929 DT.95178630

24/308 AceView cDNA sequences (see all 308 ):

BQ015548 BX284036 BF224164 BM984237 AI452808 BM785447 AI783803 BU625613

AL039248 AA806814 D31884 BM789347 BM971330 BE221711 AI521636 BM857156

AI381840 AW139327 AW673061 AI471247 BM800179 CB120740 BF063556 BE044627

highest scoring ESTs for JOSD1:

AA057310 AI611799 AL039248 BC015026 BE786723 BF738773 BG708486 BQ231977 BQ929893 BU192424

Unigene Cluster for JOSD1:

Josephin domain containing 1

Hs.3094 [show with all ESTs]

Unigene Representative Sequence: NM_014876

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for JOSD1

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6a	·	6b
SP1:			-		-
SP2:
SP3:					-
SP4:											-

About this scheme

ECgene alternative splicing isoforms for JOSD1

1 Ensembl transcript including schematic representation:

ENST00000216039

(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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JOSD1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JOSD1

¹ / ² / ³

3 probe-sets matching JOSD1 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
34333_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AL021707	0.20	0.33	0.27	1
201751_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_014876	0.60	1.00	0.82	1
201751_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks JOSD1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

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

CGAP SAGE TAG: CTGATGCCCA

SOURCE GeneReport for Unigene cluster: Hs.3094
Expression variation in blood from EXPOLDB for JOSD1

(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)
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Orthologs for JOSD1 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	JOSD1¹	--	Josephin domain containing 1	94.22(n) 97.52(a)	481251 XM_538372.2 XP_538372.2
chimpanzee (Pan troglodytes)	JOSD1¹	--	Josephin domain containing 1	100(n) 100(a)	458834 XM_001164290.1 XP_001164290.1
cow (Bos taurus)	JOSD1¹	--	Josephin domain containing 1	94.55(n) 97.52(a)	510781 NM_001014898.1 NP_001014898.1
rat (Rattus norvegicus)	Josd1¹	--	Josephin domain containing 1	90.43(n) 97.03(a)	315134 NM_001025009.1 NP_001020180.1
mouse (Mus musculus)	Josd1⁵ ENSMUSG00000074243¹	15⁵	Josephin domain containing 1⁵ predicted gene, ENSMUSG00000074243¹	90.43(n)¹ 97.03(a)¹	100043771¹ XM_001480984.1¹ XP_001481034.1¹ AK004913⁵ AK154799⁵ (see all 57)

About this table Species with no ortholog for JOSD1

ENSEMBL Gene Tree for JOSD1

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

Paralogs for JOSD1 gene

JOSD2²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/74 NCBI SNPs in JOSD1 are shown (see all 74 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 37)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs10135^1,2	A,C,F,H	37412120(-)	`GCAACT/CGGCCG`	1	--	ut3¹ ese³		18		MN EA NA EU WA	1840
	rs6001200^1,2	C,F,H	37425795(+)	`GCATTG/CCTGTC`	1	R/S	mis¹ ese³		5		EU EA WA NA	444
--	rs6519133^1,2	A,C	37426548(+)	`GCGGAC/TTCTAG`	1	--	ng3¹		0	--	--	--	--
	rs3747175^1,2	C,H	37412806(+)	`AAAACT/AGCTCT`	1	--	ut3¹		2		EU EA	298
	rs5757243^1,2	H	37411989(+)	`GCTTGT/AGACAA`	1	--	ut3¹ ese³		4		EU EA WA	418
	rs2072800^1,2	C,F,H	37425933(+)	`ACACAA/GCTCAT`	1	S/S	syn¹		4		EA EU WA NA	1392
	rs926299^1,2	A,C,F,H	37425644(+)	`TAACGC/GAATCT`	1	--	int¹		20		NA PA EA NS EU WA	1490
	rs4820345^1,2	A,C,F,H	37421097(+)	`AGAGCT/CAGGCA`	1	--	int¹		7		EU EA WA NA	544
	rs5750671^1,2	A,C,F	37424565(+)	`TAACTC/ACTTCT`	1	--	int¹		2		NA	182
--	rs6001199^1,2	A,C	37418710(+)	`ctgggC/Taacaa`	1	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for JOSD1 (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)
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7 PubMed articles for JOSD1 gene:

Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)^{2, 3, 4} Nomura N....Tabata S. (1994)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{3, 4} Collins J.E.... Dunham I. (2004)
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)
Structural modeling of ataxin-3 reveals distant homology to adaptins. (PubMed id 12486728)^{3, 4} Albrecht M....Lengauer T. (2003)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{3, 4} Dunham I....O'Brien K.P. (1999)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)³ Barbe L....Andersson-Svahn H. (2008)
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)
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Entrez Gene: 9929	HGNC: 28953	AceView: KIAA0063	Ensembl:ENSG00000100221	euGenes: HUgn9929
ECgene: JOSD1	H-InvDB: JOSD1

(According to HUGE)
About This Section

HUGE: KIAA0063

(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 JOSD1
(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 JOSD1:

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 JOSD1-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 JOSD1		Antibodies for JOSD1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for JOSD1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (JOSD1)
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	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for JOSD1

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

Search Novus for antibodies for JOSD1

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JOSD1 Gene

protein-coding GIFtS: 50

Aliases &
Descriptions
for JOSD1

Summaries
for JOSD1

Genomic Location
for JOSD1

Proteins
for JOSD1

Protein Domains/
Families
for JOSD1

Gene Function
for JOSD1

Pathways & Interactions
for JOSD1

Drugs & Compounds
for JOSD1

Transcripts
for JOSD1

Expression
for JOSD1

Orthologs
for JOSD1

Paralogs
for JOSD1

SNPs/Variants
for JOSD1

Disorders & Mutations
for JOSD1

Medical News
for JOSD1

Publications
for JOSD1

Search for JOSD1

Genome Databases showing JOSD1

Other Databases showing JOSD1

Specialized Databases showing JOSD1

Licensable Technologies
for JOSD1

Services
for JOSD1

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

JOSD1 Gene

protein-coding GIFtS: 50

Aliases & Descriptionsfor JOSD1

Summariesfor JOSD1

Genomic Locationfor JOSD1

Proteinsfor JOSD1

Protein Domains/Familiesfor JOSD1

Gene Functionfor JOSD1

Pathways & Interactionsfor JOSD1

Drugs & Compoundsfor JOSD1

Transcriptsfor JOSD1

Expression for JOSD1

Orthologsfor JOSD1

Paralogsfor JOSD1

SNPs/Variantsfor JOSD1

Disorders & Mutationsfor JOSD1

Medical Newsfor JOSD1

Publicationsfor JOSD1

Search for JOSD1

Genome Databases showing JOSD1

Other Databases showing JOSD1

Specialized Databases showing JOSD1

Licensable Technologiesfor JOSD1

Servicesfor JOSD1

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 JOSD1

Summaries
for JOSD1

Genomic Location
for JOSD1

Proteins
for JOSD1

Protein Domains/
Families
for JOSD1

Gene Function
for JOSD1

Pathways & Interactions
for JOSD1

Drugs & Compounds
for JOSD1

Transcripts
for JOSD1

Expression
for JOSD1

Orthologs
for JOSD1

Paralogs
for JOSD1

SNPs/Variants
for JOSD1

Disorders & Mutations
for JOSD1

Medical News
for JOSD1

Publications
for JOSD1

Licensable Technologies
for JOSD1

Services
for JOSD1