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

Gene ID: 55156, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 13.7), endometrium (RPKM 11.5) and 25 other tissues See more
Orthologs
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Genomic context

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See ARMC1 in Genome Data Viewer
Location:
8q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65602458..65634177, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66028123..66059853, complement)
RS_2024_09 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 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 (32) 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 HTP PubMed 
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_2024_08

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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