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    ARMC1 armadillo repeat containing 1 [ Homo sapiens (human) ]

    Gene ID: 55156, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ARMC1provided by HGNC
    Official Full Name
    armadillo repeat containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17684
    See related
    Ensembl:ENSG00000104442 MIM:620385; AllianceGenome:HGNC:17684
    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
    Arcp
    Summary
    Predicted to enable metal ion binding activity. Involved in intracellular distribution of mitochondria. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 13.7), endometrium (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65602458..65634177, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66028123..66059853, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66514693..66546412, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 86 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:66367245-66367474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:66419280-66420479 Neighboring gene long intergenic non-protein coding RNA 1299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66472804-66473503 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:66528344-66529126 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:66546245-66546867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27462 Neighboring gene MPRA-validated peak7054 silencer Neighboring gene mitochondrial fission regulator 1 Neighboring gene uncharacterized LOC107986949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27463 Neighboring gene phosphodiesterase 7A Neighboring gene MPRA-validated peak7055 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66752860-66753429 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753430-66753998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753999-66754568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66754569-66755137 Neighboring gene PDE7A divergent transcript

    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. Armadillo repeat-containing protein 1 is a dual localization protein associated with mitochondrial intermembrane space bridging complex. Wagner F, et al. PLoS One, 2019. PMID 31644573, Free PMC Article
    2. Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. Steffen J, et al. Mol Biol Cell, 2017 Mar 1. PMID 28057766, Free PMC Article
    3. Scanning the human proteome for calmodulin-binding proteins. Shen X, et al. Proc Natl Acad Sci U S A, 2005 Apr 26. PMID 15840729, Free PMC Article
    4. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661
    5. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ArmC1 represents therefore a peripheral MICOS/MIB component that appears to play a role in mitochondrial distribution in the cell.
      Title: Armadillo repeat-containing protein 1 is a dual localization protein associated with mitochondrial intermembrane space bridging complex.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Clone Names

    • FLJ10511

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular distribution of mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 1

    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_001286702.2 → NP_001273631.1  armadillo repeat-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001273631.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the central coding region compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (2) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA808041, AC055822, AC100814, AK304463, DC349250
      Consensus CDS
      CCDS69490.1
      UniProtKB/Swiss-Prot
      Q9NVT9
      Related
      ENSP00000388572.2, ENST00000458464.3

    2. NM_018120.6 → NP_060590.1  armadillo repeat-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA808041, AC055822, AC100814, BC018846, DC349250
      Consensus CDS
      CCDS6181.1
      UniProtKB/Swiss-Prot
      B4E2W7, Q9H018, Q9H820, Q9NVT9
      Related
      ENSP00000276569.3, ENST00000276569.8
      Conserved Domains (1) summary
      pfam00514
      Location:27 → 67
      Arm; Armadillo/beta-catenin-like repeat

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      65602458..65634177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251264.3 → XP_005251321.1  armadillo repeat-containing protein 1 isoform X2

      Conserved Domains (1) summary
      cd00020
      Location:21 → 91
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

    2. XM_047421927.1 → XP_047277883.1  armadillo repeat-containing protein 1 isoform X2

    3. XM_047421926.1 → XP_047277882.1  armadillo repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2W7, Q9H018, Q9H820, Q9NVT9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66028123..66059853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360751.1 → XP_054216726.1  armadillo repeat-containing protein 1 isoform X2

    2. XM_054360752.1 → XP_054216727.1  armadillo repeat-containing protein 1 isoform X2

    3. XM_054360750.1 → XP_054216725.1  armadillo repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2W7, Q9H018, Q9H820, Q9NVT9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVT9.1 GenPept UniProtKB/Swiss-Prot:Q9NVT9

    Gene LinkOut

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

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