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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AJAP1 Gene

protein-coding GIFtS: 46
GCID: GC01P004714

adherens junctions associated protein 1

Explore 5 diseases affiliated with
AJAP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Adherens Junctions Associated Protein 1¹ ²		RP3-426F10.1²
SHREW1¹ ² ³ ⁵		Adherens Junction Associated Protein 1²
MOT8¹ ² ³		Adherens Junction-Associated Protein 1²
SHREW-1¹ ²		Transmembrane Protein SHREW1²
Membrane Protein Shrew-1² ³

External Ids:	HGNC: 30801¹	Entrez Gene: 55966²	Ensembl: ENSG00000196581⁷	OMIM: 610972⁵	UniProtKB: Q9UKB5³

Export aliases for AJAP1 gene to outside databases

Previous GC identifers: GC01P004626 GC01P003862

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

UniProtKB/Swiss-Prot: AJAP1_HUMAN, Q9UKB5

Function: Plays a role in cell adhesion and cell migration

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

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_021937.19

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for AJAP1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AJAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for AJAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AJAP1

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

Entrez Gene cytogenetic band: 1p36.32 Ensembl cytogenetic band: 1p36.32 HGNC cytogenetic band: 1p36.32

AJAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AJAP1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P004714: view genomic region (about GC identifiers)

Start:	4,714,792 bp from pter	End:	4,843,851 bp from pter
Size:	129,060 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AJAP1_HUMAN, Q9UKB5 (See protein sequence)

Recommended Name: Adherens junction-associated protein 1

Size: 411 amino acids; 44536 Da

Subunit: Forms a complex with CDH1 and CTNNB1; interacts directly with CTNNB1. Interacts with AP1M2 and BSG/CD147

Subcellular location: Basolateral cell membrane; Single-pass type III membrane protein. Apical cell membrane;

Single-pass type III membrane protein. Cell junction, adherens junction. Note=Mainly basolateral. Localization is

mediated by AP1M2

Sequence caution: Sequence=CAB41245.1; Type=Erroneous initiation; Sequence=CAB41246.1; Type=Erroneous initiation;

Secondary accessions: Q9Y229

Explore the universe of human proteins at neXtProt for AJAP1: NX_Q9UKB5

Post-translational modifications:

Thr-237 and Ser-239 may be phosphorylated; however as this position is probably extracellular, the in vivo relevance is

not proven¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UKB5

AJAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035943.1 NP_061324.1

ENSEMBL proteins:

ENSP00000367432 ENSP00000367433

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005912	adherens junction	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016323	basolateral plasma membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--

AJAP1 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9UKB5

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AJAP1_HUMAN, Q9UKB5

Function: Plays a role in cell adhesion and cell migration

miRNA Products:		OriGene 3'-UTR Clone (see all 2): AJAP1 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

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4 GenomeRNAi human phenotypes for AJAP1:

Decreased Salmonella enterica

Decreased viability with pacli

Increased cilium length after

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AJAP1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for AJAP1 (Q9UKB5^{2, 3} ENSP00000367432⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDH1	P12830³, ENSP00000261769⁴	I2D: score=1 STRING: ENSP00000261769
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
CTNNB1	P35222³, ENSP00000344456⁴	I2D: score=3 STRING: ENSP00000344456
--	P31016²	MINT-8105517

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--

AJAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AJAP1
Search CenterWatch for drugs/clinical trials and news about AJAP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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About This Section

REFSEQ mRNAs for AJAP1 gene (2 alternative transcripts):

NM_001042478.1 NM_018836.3

Unigene Cluster for AJAP1:

Adherens junctions associated protein 1

Hs.25924 [show with all ESTs]

Unigene Representative Sequence: NM_018836

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

ENST00000378190(uc001alm.1) ENST00000378191(uc001aln.3) ENST00000466761

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		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate AJAP1 (see all 29):
		hsa-miR-1178 hsa-miR-146b-3p hsa-miR-548v hsa-miR-139-5p hsa-miR-1271 hsa-miR-346 hsa-miR-221 hsa-miR-197

		SwitchGear 3'UTR luciferase reporter plasmid: AJAP1 3' UTR sequence

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Additional cDNA sequence:

AF052143.1 AF175409.1 AL049672.1 AL049673.1 AY282806.1 BC041648.1

3 DOTS entries:

DT.40297407 DT.100745605 DT.97825404

24/26 AceView cDNA sequences (see all 26):

AL049673 AA452993 AF175409 AL049672 AI862914 AY282806 AW043855 BX115342

AI913668 CD679301 H10068 AI651303 BX478698 AW964143 AA378441 AA452856

BM983229 AF052143 NM_018836 AA835004 BE350590 BG460226 BG190981 U21460

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AJAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

AJAP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AJAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AJAP1

SOURCE GeneReport for Unigene cluster: Hs.25924

UniProtKB/Swiss-Prot: AJAP1_HUMAN, Q9UKB5

Tissue specificity: Expressed in uterus and pancreas (at protein level)

SABiosciences Expression via Pathway-Focused PCR Array including AJAP1:

Adherens Junctions in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AJAP1

(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 chordates.

Orthologs for AJAP1 gene from 5/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ajap1^{1 , 5}	adherens junction associated protein 1^{1, 5}	83.09(n)¹ 82.11(a)¹		4 (83.71 cM)⁵ 230959¹ NM_001099299.1¹ NP_001092769.1¹ 153373221⁵
chicken (Gallus gallus)	Aves	AJAP1¹	adherens junctions associated protein 1	69.23(n) 65.85(a)		770310 XM_001233642.2 XP_001233643.2
lizard (Anolis carolinensis)	Reptilia	AJAP1⁶	--	57(a)	1 ↔ 1	GL343537.1(213915-238261)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.12381²	Transcribed sequence with moderate similarity to protein more	76(n)		BX704837.1
zebrafish (Danio rerio)	Actinopterygii	ajap1⁶	adherens junctions associated protein 1	48(a)	1 ↔ 1	8(22126993-22214569)

ENSEMBL Gene Tree for AJAP1 (if available)
TreeFam Gene Tree for AJAP1 (if available)

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

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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34995935^1,2	C	--	4713157(+)	`ACCCCC/GAGTTA`	2	--	us2k¹		0	--	--	--	--
rs35360221^1,2	C,F,	--	4713221(+)	`ACTTCC/ACTGCC`	2	--	us2k¹		6		NA WA EA	364
rs151301254^1,2		--	4713437(+)	`CCCTTC/GCACCC`	2	--	us2k¹		0	--	--	--	--
rs4144451^1,2	C,F,	--	4713497(+)	`GCCCCC/TCTCAC`	2	--	us2k¹		8		NA WA EA	368
rs185008664^1,2		--	4713505(+)	`CACCCC/GCCACG`	2	--	us2k¹		0	--	--	--	--
rs188904867^1,2		--	4713585(+)	`GGCTCC/GGCATG`	2	--	us2k¹		0	--	--	--	--
rs182031301^1,2		--	4713713(+)	`GGTTTC/TTCAAG`	2	--	us2k¹		0	--	--	--	--
rs140529361^1,2		--	4713720(+)	`CAAGGC/TGTCAG`	2	--	us2k¹		0	--	--	--	--
rs116564644^1,2	F,	--	4713829(+)	`GTTGTT/CTTTGT`	2	--	us2k¹		1		WA	118
rs145464887^1,2		--	4714087(+)	`GCGGTA/GACTTC`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AJAP1 (4714792 - 4843851 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AJAP1
2 CNVs: 97269 48330

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AJAP1

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(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.)
About This Section

AJAP1 for disorders           About GeneDecksing

OMIM gene information: 610972    OMIM disorders: --

5 diseases for AJAP1:    About MalaCards

choroid plexus papilloma oligodendroglioma papilloma choroiditis

schizophrenia

Human Genome Epidemiology (HuGE) Navigator: AJAP1 (2 documents)

Export disorders for AJAP1 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 AJAP1 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with AJAP1)

Utopia: connect your pdf to the dynamic
world of online information

Novel membrane protein shrew-1 targets to cadherin-mediated junctions in polarized epithelial cells. (PubMed id 14595118)^{1, 2, 3} Bharti S.... Starzinski-Powitz A. (2004)
junction protein shrew-1 influences cell invasion and interacts with invasion-promoting protein CD147. (PubMed id 17267690)^{1, 2} Schreiner A....Starzinski-Powitz A. (2007)
Targeting of transmembrane protein shrew-1 to adherens junctions is controlled by cytoplasmic sorting motifs. (PubMed id 16707570)^{1, 2} Jakob V.... Starzinski-Powitz A. (2006)
The SHREW1 gene, frequently deleted in oligodendrogliomas, functions to inhibit cell adhesion and migration. (PubMed id 16410724)^{1, 2} McDonald J.M....Zhang W. (2006)
GWAS of dental caries patterns in the permanent dentit ion. (PubMed id 23064961)¹ Shaffer J.R....Marazita M.L. (2013)
Deletion or epigenetic silencing of AJAP1 on 1p36 in g lioblastoma. (PubMed id 22241217)¹ Lin N....Adamson D.C. (2012)
Tumor-associated methylation of the putative tumor sup pressor AJAP1 gene and association between decreased AJAP1 expression and shorte r survival in patients with glioma. (PubMed id 21439246)¹ Cogdell D....Zhang W. (2011)
Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analy sis among pharmacogenomics, mouse expression, and genetic case-control associat ion approaches. (PubMed id 19850283)¹ Ikeda M....Iwata N. (2010)
Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)¹ Trynka G....Wijmenga C. (2009)
E-cadherin surface levels in epithelial growth factor -stimulated cells depend on adherens junction protein shrew-1. (PubMed id 19515834)¹ Gross J.C....Starzinski-Powitz A. (2009)

(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: 55966	HGNC: 30801	AceView: SHREW1	Ensembl:ENSG00000196581	euGenes: HUgn55966
ECgene: AJAP1	H-InvDB: AJAP1

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for AJAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AJAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for AJAP1 gene:
Search GeneIP for patents involving AJAP1

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AJAP1
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Cell Line associated with AJAP1: PureStem E15, Meso-prx/latp Progenitor

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AJAP1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes AJAP1 gene at Home site.

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AJAP1 Gene

adherens junctions associated protein 1

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AJAP1 Gene

adherens junctions associated protein 1

Aliasesfor AJAP1 gene

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Genomic Viewsfor AJAP1 gene

Proteinsfor AJAP1 gene

Protein Domains /Familiesfor AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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for AJAP1 gene

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