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Aliases for AJAP1 Gene

Aliases for AJAP1 Gene

  • Adherens Junctions Associated Protein 1 2 3 5
  • Transmembrane Protein SHREW1 2 3
  • Membrane Protein Shrew-1 3 4
  • SHREW1 3 4
  • MOT8 3 4
  • Adherens Junction-Associated Protein 1 3
  • SHREW-1 3

External Ids for AJAP1 Gene

Previous GeneCards Identifiers for AJAP1 Gene

  • GC01P004626
  • GC01P003862

Summaries for AJAP1 Gene

GeneCards Summary for AJAP1 Gene

AJAP1 (Adherens Junctions Associated Protein 1) is a Protein Coding gene. Diseases associated with AJAP1 include Dental Caries and Chromosome 1P36 Deletion Syndrome.

UniProtKB/Swiss-Prot for AJAP1 Gene

  • Plays a role in cell adhesion and cell migration.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AJAP1 Gene

Genomics for AJAP1 Gene

Regulatory Elements for AJAP1 Gene

Enhancers for AJAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G003687 1.5 FANTOM5 Ensembl ENCODE 10.4 -964.9 -964891 3.7 HDGF PKNOX1 ARNT TCF12 GLIS2 ZNF548 KDM4B KLF13 JUNB SMARCA4 TP73-AS1 TP73 C1orf174 ENSG00000272153 CEP104 AJAP1 WRAP73 LOC105378609 ENSG00000235131
GH01G004676 0.5 FANTOM5 dbSUPER 12.9 +21.6 21610 0.3 AJAP1 GC01P004654 GC01M004696
GH01G004675 0.5 ENCODE dbSUPER 12.9 +20.9 20944 0.2 AJAP1 GC01P004654 GC01M004696
GH01G004674 0.4 dbSUPER 12.9 +20.2 20175 0.7 POLR2A ZMYM3 AJAP1 GC01P004654 GC01M004696
GH01G004006 0.9 ENCODE 5.7 -647.2 -647219 1.6 TBP PKNOX1 ATF1 BMI1 NFXL1 TCF12 ZNF350 ETV6 SMARCA5 ZBTB2 C1orf174 AJAP1 PIR57428 LOC105376673
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AJAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AJAP1 Gene

Chromosome:
1
Start:
4,654,732 bp from pter
End:
4,792,534 bp from pter
Size:
137,803 bases
Orientation:
Plus strand

Genomic View for AJAP1 Gene

Genes around AJAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AJAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AJAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AJAP1 Gene

Proteins for AJAP1 Gene

  • Protein details for AJAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKB5-AJAP1_HUMAN
    Recommended name:
    Adherens junction-associated protein 1
    Protein Accession:
    Q9UKB5
    Secondary Accessions:
    • Q9Y229

    Protein attributes for AJAP1 Gene

    Size:
    411 amino acids
    Molecular mass:
    44536 Da
    Quaternary structure:
    • Forms a complex with CDH1 and CTNNB1; interacts directly with CTNNB1. Interacts with AP1M2 and BSG/CD147.
    SequenceCaution:
    • Sequence=CAB41245.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB41246.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for AJAP1 Gene

Post-translational modifications for AJAP1 Gene

  • Thr-237 and Ser-239 may be phosphorylated; however as this position is probably extracellular, the in vivo relevance is not proven.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AJAP1 Gene

No data available for DME Specific Peptides for AJAP1 Gene

Domains & Families for AJAP1 Gene

Protein Domains for AJAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AJAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AJAP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for AJAP1 Gene

Function for AJAP1 Gene

Molecular function for AJAP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cell adhesion and cell migration.
genes like me logo Genes that share phenotypes with AJAP1: view

Animal Models for AJAP1 Gene

MGI Knock Outs for AJAP1:

Animal Model Products

miRNA for AJAP1 Gene

miRTarBase miRNAs that target AJAP1

Inhibitory RNA Products

Clone Products

Cell Line Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AJAP1 Gene

Localization for AJAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AJAP1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AJAP1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AJAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005912 adherens junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with AJAP1: view

Pathways & Interactions for AJAP1 Gene

SuperPathways for AJAP1 Gene

No Data Available

Interacting Proteins for AJAP1 Gene

Gene Ontology (GO) - Biological Process for AJAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with AJAP1: view

No data available for Pathways by source and SIGNOR curated interactions for AJAP1 Gene

Drugs & Compounds for AJAP1 Gene

No Compound Related Data Available

Transcripts for AJAP1 Gene

Unigene Clusters for AJAP1 Gene

Adherens junctions associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AJAP1 Gene

No ASD Table

Relevant External Links for AJAP1 Gene

GeneLoc Exon Structure for
AJAP1
ECgene alternative splicing isoforms for
AJAP1

Expression for AJAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AJAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AJAP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Cortex (x4.9), and Brain - Nucleus accumbens (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for AJAP1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AJAP1 Gene



Protein tissue co-expression partners for AJAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AJAP1 Gene:

AJAP1

SOURCE GeneReport for Unigene cluster for AJAP1 Gene:

Hs.25924

mRNA Expression by UniProt/SwissProt for AJAP1 Gene:

Q9UKB5-AJAP1_HUMAN
Tissue specificity: Expressed in uterus and pancreas (at protein level).

Evidence on tissue expression from TISSUES for AJAP1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with AJAP1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AJAP1 Gene

Orthologs for AJAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AJAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AJAP1 34 35
  • 99.03 (n)
cow
(Bos Taurus)
Mammalia AJAP1 34 35
  • 85.61 (n)
dog
(Canis familiaris)
Mammalia AJAP1 34 35
  • 84.47 (n)
mouse
(Mus musculus)
Mammalia Ajap1 34 16 35
  • 81.94 (n)
rat
(Rattus norvegicus)
Mammalia Ajap1 34
  • 80.34 (n)
oppossum
(Monodelphis domestica)
Mammalia AJAP1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AJAP1 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves AJAP1 34 35
  • 68.53 (n)
lizard
(Anolis carolinensis)
Reptilia AJAP1 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ajap1 34
  • 66.33 (n)
Str.12381 34
zebrafish
(Danio rerio)
Actinopterygii LOC101887016 34
  • 55.26 (n)
ajap1 35
  • 46 (a)
OneToOne
Species where no ortholog for AJAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AJAP1 Gene

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

Paralogs for AJAP1 Gene

No data available for Paralogs for AJAP1 Gene

Variants for AJAP1 Gene

Sequence variations from dbSNP and Humsavar for AJAP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000018816 -- 4,665,615(+) AGCCA(C/T)GCAAG intron-variant
rs1000019613 -- 4,698,903(+) TCCAG(C/T)GGGGA intron-variant
rs1000024199 -- 4,727,194(+) CGAAC(A/G)CTGCA intron-variant
rs1000034773 -- 4,704,586(+) AGTCT(C/T)TGCTA intron-variant
rs1000059285 -- 4,772,898(+) CCCCC(A/G)ACCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AJAP1 Gene

Variant ID Type Subtype PubMed ID
esv1009421 CNV deletion 20482838
esv2651800 CNV insertion 19546169
esv3409614 CNV insertion 20981092
esv3585076 CNV loss 21293372
nsv1012423 CNV gain 25217958
nsv1076000 CNV deletion 25765185
nsv1076958 CNV deletion 25765185
nsv1126171 CNV deletion 24896259
nsv1126969 CNV deletion 24896259
nsv1136063 CNV deletion 24896259
nsv460505 CNV loss 19166990
nsv460617 CNV loss 19166990
nsv520031 CNV loss 19592680
nsv521535 CNV loss 19592680
nsv545158 CNV loss 21841781
nsv545159 CNV loss 21841781
nsv545160 CNV loss 21841781
nsv825475 CNV gain 20364138
nsv830870 CNV loss 17160897
nsv830981 CNV gain 17160897
nsv953834 CNV deletion 24416366

Variation tolerance for AJAP1 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.05; 93.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AJAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AJAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AJAP1 Gene

Disorders for AJAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AJAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dental caries
  • dental caries extending into pulp
chromosome 1p36 deletion syndrome
  • 1p36 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AJAP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AJAP1

Genetic Association Database (GAD)
AJAP1
Human Genome Epidemiology (HuGE) Navigator
AJAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AJAP1
genes like me logo Genes that share disorders with AJAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AJAP1 Gene

Publications for AJAP1 Gene

  1. Novel membrane protein shrew-1 targets to cadherin-mediated junctions in polarized epithelial cells. (PMID: 14595118) Bharti S. … Starzinski-Powitz A. (Mol. Biol. Cell 2004) 2 3 4 64
  2. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M. … Iwata N. (Biol. Psychiatry 2010) 3 46 64
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  4. junction protein shrew-1 influences cell invasion and interacts with invasion-promoting protein CD147. (PMID: 17267690) Schreiner A. … Starzinski-Powitz A. (Mol. Biol. Cell 2007) 3 4 64
  5. The SHREW1 gene, frequently deleted in oligodendrogliomas, functions to inhibit cell adhesion and migration. (PMID: 16410724) McDonald J.M. … Zhang W. (Cancer Biol. Ther. 2006) 3 4 64

Products for AJAP1 Gene

Sources for AJAP1 Gene

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