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

Gene ID: 55966, updated on 5-Mar-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. Is spanning component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 4.3), ovary (RPKM 2.3) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.32
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (4654609..4792534)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (4168333..4306459)
105.20220307 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. 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
  2. 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
  3. 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
  4. Reduced Expression of Adherens Junctions Associated Protein 1 Predicts Recurrence of Hepatocellular Carcinoma After Curative Hepatectomy. Ezaka K, et al. Ann Surg Oncol, 2015 Dec. PMID 26122373
  5. Adherens junctional associated protein-1: a novel 1p36 tumor suppressor candidate in gliomas (Review). Zeng L, et al. Int J Oncol, 2014 Jul. PMID 24807315

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  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.
    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.
  2. 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.
  3. 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.
  4. 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.
  5. AJAP1 blocked epithelial-to-mesenchymal transition by interacting with beta-catenin and inhibiting its nuclear translocation, which suppressed zinc finger E-box binding homeobox 1 (ZEB1) transcription.
    Title: Deregulated AJAP1/β-catenin/ZEB1 signaling promotes hepatocellular carcinoma carcinogenesis and metastasis.
  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)

Genotypes

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-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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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_2023_10

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.

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