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    ARMC7 armadillo repeat containing 7 [ Homo sapiens (human) ]

    Gene ID: 79637, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARMC7provided by HGNC
    Official Full Name
    armadillo repeat containing 7provided by HGNC
    Primary source
    HGNC:HGNC:26168
    See related
    Ensembl:ENSG00000125449 AllianceGenome:HGNC:26168
    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
    Summary
    Predicted to be involved in RNA splicing and mRNA processing. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 3.9), lung (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARMC7 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75109969..75130272)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76001436..76021735)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73106064..73126367)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73037362-73037932 Neighboring gene Sharpr-MPRA regulatory region 3986 Neighboring gene potassium channel tetramerization domain containing 2 Neighboring gene RNA, 7SL, cytoplasmic 573, pseudogene Neighboring gene ATP synthase peripheral stalk subunit d Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73074528-73075727 Neighboring gene tripartite motif containing 80, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089299-73089872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089873-73090445 Neighboring gene solute carrier family 16 member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73100784-73101284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73101285-73101785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73110035-73110574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12735 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:73120068-73121267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12736 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73126856-73127060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8956 Neighboring gene uncharacterized LOC107985034 Neighboring gene 5', 3'-nucleotidase, cytosolic Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73143638-73144837 Neighboring gene Jupiter microtubule associated homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8957 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73151095-73151690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73178362-73179012 Neighboring gene small ubiquitin like modifier 2

    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 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

    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

    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

    Clone Names

    • FLJ22160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 7

    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_001304271.2 → NP_001291200.1  armadillo repeat-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001291200.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate splice site in the 5' coding region, resulting in frameshift, compared to variant 1. The encoded isoform (2) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC022211, AK300997, BC011728
      Consensus CDS
      CCDS77107.1
      UniProtKB/Swiss-Prot
      Q9H6L4
      Related
      ENSP00000462962.1, ENST00000581078.1

    2. NM_001304272.2 → NP_001291201.1  armadillo repeat-containing protein 7 isoform 3

      See identical proteins and their annotated locations for NP_001291201.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK300997, AW081695
      Consensus CDS
      CCDS77109.1
      UniProtKB/TrEMBL
      J3KTE5
      Related
      ENSP00000462939.1, ENST00000584947.1

    3. NM_001304273.2 → NP_001291202.1  armadillo repeat-containing protein 7 isoform 4

      See identical proteins and their annotated locations for NP_001291202.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK300997, BF512472, BI826938, CR748475
      Consensus CDS
      CCDS77108.1
      UniProtKB/TrEMBL
      J3KST7
      Related
      ENSP00000462642.1, ENST00000582136.5

    4. NM_024585.4 → NP_078861.1  armadillo repeat-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_078861.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC022211, AK300997, BC011728
      Consensus CDS
      CCDS11714.1
      UniProtKB/Swiss-Prot
      B4DVA4, Q9H6L4
      Related
      ENSP00000245543.1, ENST00000245543.6
      Conserved Domains (2) summary
      sd00043
      Location:50 → 86
      ARM; armadillo repeat [structural motif]
      pfam00514
      Location:87 → 126
      Arm; Armadillo/beta-catenin-like repeat

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75109969..75130272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76001436..76021735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6L4.1 GenPept UniProtKB/Swiss-Prot:Q9H6L4

    Gene LinkOut

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

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