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    AJAP1 adherens junctions associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 55966, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AJAP1provided by HGNC
    Official Full Name
    adherens junctions associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:30801
    See related
    Ensembl:ENSG00000196581 MIM:610972; AllianceGenome:HGNC:30801
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOT8; SHREW1; SHREW-1
    Summary
    Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cell-cell contact zone. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.3), ovary (RPKM 2.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AJAP1 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (4654609..4792534)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (4168333..4306459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (4714669..4852594)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904578 Neighboring gene long intergenic non-protein coding RNA 1646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4659710-4660493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4660494-4661276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4673757-4674270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4696215-4696828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4697441-4698052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4698053-4698664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 69 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4750784-4751735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4753674-4754174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4754175-4754675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:4761588-4762504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:4762505-4763419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4763460-4763971 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:4766013-4766207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4769069-4769981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4771051-4771667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4770432-4771050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4793939-4794439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4804152-4804652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4804653-4805153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4811516-4812353 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:4814461-4815322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4822523-4823023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:4842233-4842751 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:4881125-4881715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:4929251-4929752 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:4957340-4957510 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:5025208-5026407 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:5045612-5046811 Neighboring gene long intergenic non-protein coding RNA 2781 Neighboring gene uncharacterized LOC124904589 Neighboring gene uncharacterized LOC102724429

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1. Yang L, et al. J Cancer Res Clin Oncol, 2023 Sep. PMID 37247081
    2. β-Catenin nuclear localization positively feeds back on EGF/EGFR-attenuated AJAP1 expression in breast cancer. Xu C, et al. J Exp Clin Cancer Res, 2019 Jun 6. PMID 31171012, Free PMC Article
    3. AJAP1 expression modulates glioma cell motility and correlates with tumor growth and survival. Di C, et al. Int J Oncol, 2018 Jan. PMID 29115565, Free PMC Article
    4. Synergism of shrew-1's signal peptide and transmembrane segment required for plasma membrane localization. Resch E, et al. Traffic, 2008 Aug. PMID 18485053
    5. Adherens junctions associated protein 1 serves as a predictor of recurrence of squamous cell carcinoma of the esophagus. Tanaka H, et al. Int J Oncol, 2015 Nov. PMID 26397940

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
      Title: Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
    2. Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1.
      Title: Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1.
    3. LncRNA FGF14-AS2 represses growth of prostate carcinoma cells via modulating miR-96-5p/AJAP1 axis.
      Title: LncRNA FGF14-AS2 represses growth of prostate carcinoma cells via modulating miR-96-5p/AJAP1 axis.
    4. This study demonstrated that AJAP1 acted as a putative tumor suppressor while beta-catenin nuclear localization positively fed back on EGF/EGFR-attenuated AJAP1 expression in breast cancer, which might be beneficial to develop new therapeutic targets for decreasing nuclear beta-catenin-mediated malignancy in breast cancer.
      Title: β-Catenin nuclear localization positively feeds back on EGF/EGFR-attenuated AJAP1 expression in breast cancer.
    5. Stable overexpression of AJAP1 promotes adherence, decreases invasion of glioma cells through an extracellular-like matrix, and slows migration in the presence of laminin. These observations are reversed by gene knockdown using multiple siRNAs. Additionally, overexpression of AJAP1 decreases colony formation in glioma cells.
      Title: AJAP1 expression modulates glioma cell motility and correlates with tumor growth and survival.
    6. EGFR/EGFRvIII remodels the cytoskeleton via epigenetic silencing of AJAP1 in glioma cells.
      Title: EGFR/EGFRvIII remodels the cytoskeleton via epigenetic silencing of AJAP1 in glioma cells.
    7. Reduced Expression of Adherens Junctions Associated Protein 1 is associated with Recurrence of Hepatocellular Carcinoma After Curative Hepatectomy.
      Title: Reduced Expression of Adherens Junctions Associated Protein 1 Predicts Recurrence of Hepatocellular Carcinoma After Curative Hepatectomy.
    8. These findings indicate that downregulated AJAP1 transcription may serve as a novel tumor biomarker to predict recurrence of ESCC after esophagectomy.
      Title: Adherens junctions associated protein 1 serves as a predictor of recurrence of squamous cell carcinoma of the esophagus.
    9. Article summarizes and discusses current knowledge that may identify AJAP1 as a tumor suppressor in gliomas. [Review]
      Title: Adherens junctional associated protein-1: a novel 1p36 tumor suppressor candidate in gliomas (Review).
    10. Results show that AJAP1 is dysregulated at an early stage of gliomagenesis and may suppress glioma cell invasion and proliferation, which suggests that AJAP1 may be a potential diagnostic and prognostic marker for gliomas
      Title: AJAP1 is dysregulated at an early stage of gliomagenesis and suppresses invasion through cytoskeleton reorganization.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of polarized epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cell-cell contact zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    adherens junction-associated protein 1
    Names
    membrane protein shrew-1
    transmembrane protein SHREW1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001042478.2 → NP_001035943.1  adherens junction-associated protein 1 precursor

      See identical proteins and their annotated locations for NP_001035943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF175409, AL023586, AL049673, AL391808, AY282806
      Consensus CDS
      CCDS54.1
      UniProtKB/Swiss-Prot
      Q9UKB5, Q9Y229
      Related
      ENSP00000367432.3, ENST00000378190.7
      Conserved Domains (1) summary
      pfam15298
      Location:181 → 388
      AJAP1_PANP_C; AJAP1/PANP C-terminus

    2. NM_018836.4 → NP_061324.1  adherens junction-associated protein 1 precursor

      See identical proteins and their annotated locations for NP_061324.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF175409, AL023586, AL391808, AY282806
      Consensus CDS
      CCDS54.1
      UniProtKB/Swiss-Prot
      Q9UKB5, Q9Y229
      Related
      ENSP00000367433.3, ENST00000378191.5
      Conserved Domains (1) summary
      pfam15298
      Location:181 → 388
      AJAP1_PANP_C; AJAP1/PANP C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      4654609..4792534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541786.3 → XP_011540088.1  adherens junction-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540088.1

      UniProtKB/Swiss-Prot
      Q9UKB5, Q9Y229
      Conserved Domains (1) summary
      pfam15298
      Location:181 → 388
      AJAP1_PANP_C; AJAP1/PANP C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      4168333..4306459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337707.1 → XP_054193682.1  adherens junction-associated protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKB5.1 GenPept UniProtKB/Swiss-Prot:Q9UKB5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools