Aliases for AJAP1 Gene
Aliases for AJAP1 Gene
External Ids for AJAP1 Gene
- HGNC: 30801
- Entrez Gene: 55966
- Ensembl: ENSG00000196581
- OMIM: 610972
- UniProtKB: Q9UKB5
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 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
GeneHancer (GH) Regulatory Elements for AJAP1 Gene
Promoters and enhancers for AJAP1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01J004652 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 600.7 | +0.7 | 669 | 2.4 | CTCF POLR2A EZH2 RAD21 ZNF143 SIN3A BACH1 | AJAP1 GC01P004654 GC01M004696 | |
| GH01J004006 | Enhancer | 1.1 | Ensembl ENCODE | 5.7 | -647.2 | -647218 | 1.6 | CC2D1A MLLT1 GTF2F1 MCM2 TRIM24 SMARCA4 MTA1 CREB1 GMEB1 DPF2 | PIR57428 WRAP73 C1orf174 AJAP1 LINC02780 | |
| GH01J004676 | Enhancer | 0.4 | FANTOM5 dbSUPER | 12.9 | +21.6 | 21610 | 0.3 | AJAP1 GC01P004654 GC01M004696 | ||
| GH01J004675 | Enhancer | 0.4 | ENCODE dbSUPER | 12.9 | +20.9 | 20944 | 0.2 | AJAP1 GC01P004654 GC01M004696 | ||
| GH01J004754 | Enhancer | 0.6 | Ensembl ENCODE | 6.5 | +101.4 | 101369 | 3 | SP1 BACH1 | AJAP1 PIR48322 GC01M004696 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AJAP1 on UCSC Golden Path with GeneCards custom track
Genomic Locations for AJAP1 Gene
Genomic Locations for AJAP1 Gene
- chr1:4,654,732-4,792,534
- (GRCh38/hg38)
- Size:
- 137,803 bases
- Orientation:
- Plus strand
- chr1:4,714,792-4,852,594
- (GRCh37/hg19)
- 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:
-
- 1p36.32 by HGNC
- 1p36.32 by Entrez Gene
- 1p36.32 by Ensembl
AJAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AJAP1
- Novus Biologicals Antibodies for AJAP1
- Invitrogen Antibodies for AJAP1 (AFLGC-AJAP1)
-
Custom Antibody ServicesProSci Antibodies for AJAP1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AJAP1
- Origene Custom Protein Services for AJAP1
- antibodies-online: Search results for 8 available AJAP1 Proteins ranked by validation data
- Compare Top AJAP1 Proteins
-
Quality Products:
No data available for DME Specific Peptides for AJAP1 Gene
Domains & Families for AJAP1 Gene
Gene Families for AJAP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for AJAP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AJAP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Membrane protein shrew-1 (AJAP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for 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.
Phenotypes From GWAS Catalog for AJAP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17267690 |
| GO:0008013 | beta-catenin binding | IPI | 14595118 |
| GO:0044877 | protein-containing complex binding | IDA | 14595118 |
Phenotypes for AJAP1 Gene
- MGI mutant phenotypes for AJAP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AJAP1:
-
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased homologous recombination repair frequency
- Increased cilium length after serum starvation
- Decreased Salmonella enterica Typhimurium invasion
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased gamma-H2AX phosphorylation
- Decreased viability with paclitaxel
- Increased viability
Animal Models for AJAP1 Gene
- MGI Knock Outs for AJAP1:
-
- Ajap1 Ajap1<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AJAP1
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AJAP1 - Now 50% OFF >
- * AJAP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AJAP1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for AJAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AJAP1
- genomics-online: gRNA clones - Search results for 105 available AJAP1 gene related products
- Overview of 105 available AJAP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for AJAP1
miRNA for AJAP1 Gene
- miRTarBase miRNAs that target AJAP1
-
- hsa-mir-510-3p (MIRT497353)
- hsa-mir-5004-5p (MIRT497354)
- hsa-mir-494-3p (MIRT497355)
- hsa-mir-1197 (MIRT497356)
- hsa-mir-4538 (MIRT497357)
- hsa-mir-4453 (MIRT497358)
- hsa-mir-4661-5p (MIRT497359)
- hsa-mir-190a-3p (MIRT515843)
- hsa-mir-4789-5p (MIRT515844)
- hsa-mir-3941 (MIRT515845)
- hsa-mir-603 (MIRT515846)
- hsa-mir-362-3p (MIRT515847)
- hsa-mir-329-3p (MIRT515848)
- hsa-mir-8485 (MIRT515849)
- hsa-mir-1277-5p (MIRT515850)
- hsa-mir-410-3p (MIRT515851)
- hsa-mir-3163 (MIRT515852)
- hsa-mir-4789-3p (MIRT515853)
- hsa-mir-548ay-3p (MIRT515854)
- hsa-mir-548at-3p (MIRT515855)
- hsa-mir-548t-3p (MIRT515856)
- hsa-mir-548ap-3p (MIRT515857)
- hsa-mir-548aa (MIRT515858)
- hsa-mir-335-3p (MIRT615490)
- hsa-mir-1279 (MIRT615491)
- hsa-mir-656-3p (MIRT615492)
- hsa-mir-5007-3p (MIRT618717)
- hsa-mir-548as-3p (MIRT684153)
- hsa-mir-6813-3p (MIRT705817)
- hsa-mir-4801 (MIRT707212)
- hsa-mir-4731-3p (MIRT707213)
- hsa-mir-4313 (MIRT709663)
- hsa-mir-7108-3p (MIRT709664)
- hsa-mir-3152-5p (MIRT709665)
- hsa-mir-6836-3p (MIRT709666)
- hsa-mir-6829-3p (MIRT709667)
- hsa-mir-6791-3p (MIRT709668)
- hsa-mir-6778-3p (MIRT709669)
- hsa-mir-4641 (MIRT709670)
- hsa-mir-6788-5p (MIRT713424)
- hsa-mir-30c-2-3p (MIRT713425)
- hsa-mir-30c-1-3p (MIRT713426)
- hsa-mir-6734-5p (MIRT713427)
- hsa-mir-4314 (MIRT713428)
- hsa-mir-4710 (MIRT713429)
- hsa-mir-8085 (MIRT713430)
- hsa-mir-6731-5p (MIRT713431)
- hsa-mir-6878-5p (MIRT713432)
- hsa-mir-6738-5p (MIRT713433)
- hsa-mir-5194 (MIRT713434)
- hsa-mir-1914-3p (MIRT713435)
- hsa-mir-423-5p (MIRT713436)
- hsa-mir-3184-5p (MIRT713437)
- hsa-mir-6506-5p (MIRT713438)
- hsa-mir-619-5p (MIRT713439)
- hsa-mir-3192-5p (MIRT713440)
- hsa-mir-4646-5p (MIRT713441)
- hsa-mir-204-3p (MIRT713442)
- hsa-mir-2278 (MIRT713443)
- hsa-mir-6889-3p (MIRT722005)
- hsa-mir-3194-5p (MIRT741054)
- hsa-mir-4687-5p (MIRT746993)
- hsa-mir-6511a-3p (MIRT753105)
- hsa-mir-6511b-3p (MIRT753190)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AJAP1
- Browse OriGene Inhibitory RNA Products For AJAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AJAP1
- genomics-online: shRNA clones - Search results for 105 available AJAP1 gene related products
- Overview of 105 available AJAP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for AJAP1 - Now 50% OFF >
- * AJAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AJAP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG219007
- MR219007
- MR219007L1
- MR219007L1V
- MR219007L2
- MR219007L2V
- MR219007L3
- MR219007L3V
- MR219007L4
- MR219007L4V
- RC213388
- RC213388L1
- RC213388L1V
- RC213388L2
- RC213388L2V
- RC213388L3
- RC213388L3V
- RC213388L4
- RC213388L4V
- RC223102
- RC223102L1
- RC223102L1V
- RC223102L2
- RC223102L2V
- RC223102L3
- RC223102L3V
- RC223102L4
- RC223102L4V
- RG213388
- RG223102
- RR205415
- RR205415L1
- RR205415L1V
- RR205415L2
- RR205415L2V
- RR205415L3
- RR205415L3V
- RR205415L4
- RR205415L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AJAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AJAP1
Cell Line Products
- ESI BIO PureStem E15, Meso-prx/latp Progenitor for AJAP1
-
Horizon Cell Lines for AJAP1
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| mitochondrion | 0 |
| nucleus | 0 |
| endoplasmic reticulum | 0 |
| golgi apparatus | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005912 | adherens junction | IEA | -- |
| GO:0005913 | cell-cell adherens junction | IDA | 14595118 |
| GO:0009898 | cytoplasmic side of plasma membrane | IDA,IBA | 14595118 |
| GO:0009986 | cell surface | IDA | 14595118 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AJAP1 Gene
Pathways & Interactions for AJAP1 Gene
Interacting Proteins for AJAP1 Gene
GPS-Prot Interaction Network for AJAP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001953 | negative regulation of cell-matrix adhesion | IDA | 16410724 |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0030860 | regulation of polarized epithelial cell differentiation | IDA | 14595118 |
| GO:0061045 | negative regulation of wound healing | IDA | 16410724 |
No data available for Pathways by source and SIGNOR curated interactions for AJAP1 Gene
Transcripts for AJAP1 Gene
mRNA/cDNA for AJAP1 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (26) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378190 2383 bps (ENST00000378190.7)
- ENST00000378191 11666 bps (ENST00000378191.4)
- ENST00000466761 298 bps (ENST00000466761.1)
Unigene Clusters for AJAP1 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AJAP1 - Now 50% OFF >
- * AJAP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AJAP1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for AJAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AJAP1
- genomics-online: gRNA clones - Search results for 105 available AJAP1 gene related products
- Overview of 105 available AJAP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for AJAP1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AJAP1
- Browse OriGene Inhibitory RNA Products For AJAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AJAP1
- genomics-online: shRNA clones - Search results for 105 available AJAP1 gene related products
- Overview of 105 available AJAP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for AJAP1 - Now 50% OFF >
- * AJAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AJAP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG219007
- MR219007
- MR219007L1
- MR219007L1V
- MR219007L2
- MR219007L2V
- MR219007L3
- MR219007L3V
- MR219007L4
- MR219007L4V
- RC213388
- RC213388L1
- RC213388L1V
- RC213388L2
- RC213388L2V
- RC213388L3
- RC213388L3V
- RC213388L4
- RC213388L4V
- RC223102
- RC223102L1
- RC223102L1V
- RC223102L2
- RC223102L2V
- RC223102L3
- RC223102L3V
- RC223102L4
- RC223102L4V
- RG213388
- RG223102
- RR205415
- RR205415L1
- RR205415L1V
- RR205415L2
- RR205415L2V
- RR205415L3
- RR205415L3V
- RR205415L4
- RR205415L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AJAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AJAP1
Expression for AJAP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Eye (Sensory Organs)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AJAP1 Gene:
AJAP1SOURCE GeneReport for Unigene cluster for AJAP1 Gene:
Hs.25924mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for AJAP1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AJAP1 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AJAP1 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AJAP1 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ajap1 17 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ajap1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AJAP1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AJAP1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AJAP1 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AJAP1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ajap1 34 |
|
||
| Str.12381 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101887016 34 |
|
||
| ajap1 35 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for AJAP1: view image
Paralogs for AJAP1 Gene
No data available for Paralogs for AJAP1 Gene
Variants for AJAP1 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018816 | -- | 4,665,615(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000019613 | -- | 4,698,903(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000024199 | -- | 4,727,194(+) | G/A | intron_variant | |
| rs1000034773 | -- | 4,704,586(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000059285 | -- | 4,772,898(+) | G/A/T | intron_variant |
| 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 |
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)
Additional Variant Information for AJAP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AJAP1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AJAP1 Gene
Disorders for AJAP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chromosome 1p36 deletion syndrome |
|
|
Search AJAP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AJAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for AJAP1 Gene
Publications for AJAP1 Gene
- Novel membrane protein shrew-1 targets to cadherin-mediated junctions in polarized epithelial cells. (PMID: 14595118) Bharti S … Starzinski-Powitz A (Molecular biology of the cell 2004) 2 3 4 58
- 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 (Biological psychiatry 2010) 3 45 58
- Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 58
- Junction protein shrew-1 influences cell invasion and interacts with invasion-promoting protein CD147. (PMID: 17267690) Schreiner A … Starzinski-Powitz A (Molecular biology of the cell 2007) 3 4 58
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