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

Summary

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, Dec 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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).
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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SGC32361 (e-PCR)
- UniSTS:99845

SHGC-152353 (e-PCR)
- UniSTS:177484

SHGC-74142 (e-PCR)
- UniSTS:18004

G09820 (e-PCR)
- UniSTS:11894

D1S1475 (e-PCR)
- UniSTS:149671

SHGC-151204 (e-PCR)
- UniSTS:173536

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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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)

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
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