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AJM1 apical junction component 1 homolog [ Homo sapiens (human) ]

Gene ID: 389813, updated on 5-Mar-2024

Summary

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Official Symbol
AJM1provided by HGNC
Official Full Name
apical junction component 1 homologprovided by HGNC
Primary source
HGNC:HGNC:37284
See related
Ensembl:ENSG00000232434 AllianceGenome:HGNC:37284
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
ajm-1; C9orf172
Summary
Predicted to be involved in cell-cell junction organization. Predicted to be located in adherens junction; apical plasma membrane; and cilium. Predicted to be active in apical junction complex and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
9q34.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136842478..136848801)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149076680..149083003)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139736930..139743253)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RAB, member RAS oncogene family like 6 Neighboring gene nucleolin pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139716743-139717631 Neighboring gene microRNA 4292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139732768-139733649 Neighboring gene Sharpr-MPRA regulatory region 5679 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139736293-139737174 and GRCh37_chr9:139737175-139738055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139738056-139738936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20554 Neighboring gene phosphohistidine phosphatase 1 Neighboring gene MAM domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139752096-139752733

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. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
  2. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell-cell junction organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in apical junction complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
apical junction component 1 homolog
Names
uncharacterized protein C9orf172

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_001080482.5 → NP_001073951.2  apical junction component 1 homolog

    See identical proteins and their annotated locations for NP_001073951.2

    Status: VALIDATED

    Source sequence(s)
    AL355987
    Consensus CDS
    CCDS48059.1
    UniProtKB/Swiss-Prot
    C9J069
    Related
    ENSP00000412388.1, ENST00000436881.3
    Conserved Domains (2) summary
    PHA03247
    Location:247 → 655
    PHA03247; large tegument protein UL36; Provisional
    pfam01753
    Location:668 → 710
    zf-MYND; MYND finger

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136842478..136848801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149076680..149083003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9J069.1 GenPept UniProtKB/Swiss-Prot:C9J069

Gene LinkOut

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Chemical Information
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Research Materials
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