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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

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

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