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    ARMC3 armadillo repeat containing 3 [ Homo sapiens (human) ]

    Gene ID: 219681, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARMC3provided by HGNC
    Official Full Name
    armadillo repeat containing 3provided by HGNC
    Primary source
    HGNC:HGNC:30964
    See related
    Ensembl:ENSG00000165309 MIM:611226; AllianceGenome:HGNC:30964
    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
    CT81; VAC8; KU-CT-1
    Summary
    Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 12.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See ARMC3 in Genome Data Viewer
    Location:
    10p12.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22928053..23038523)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22947064..23057478)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23216982..23327452)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 413, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:23099405-23099995 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:23099996-23100585 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:23113377-23114576 Neighboring gene uncharacterized LOC105376451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:23164275-23164885 Neighboring gene uncharacterized LOC107984215 Neighboring gene RNA, 5S ribosomal pseudogene 304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:23341078-23341578 Neighboring gene NANOG hESC enhancer GRCh37_chr10:23344706-23345245 Neighboring gene Sharpr-MPRA regulatory region 11378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2216 Neighboring gene methionine sulfoxide reductase B2 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 3

    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. The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3). Rehman AU, et al. Genes (Basel), 2022 Dec 6. PMID 36553564, Free PMC Article
    2. A novel cancer testis antigen that is frequently expressed in pancreatic, lung, and endometrial cancers. Okada T, et al. Clin Cancer Res, 2006 Jan 1. PMID 16397042
    3. A conserved Vac8/ARMC3-PtdIns3K-CI cascade regulates autophagy initiation and functions in spermiogenesis by promoting ribophagy. Lei Y, et al. Autophagy, 2021 Dec. PMID 34705610, Free PMC Article
    4. Cloning and expression of ARMC3_v2, a novel splicing variant of the human ARMC3 gene. Li X, et al. Genetika, 2006 Jul. PMID 16915934
    5. A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family. Rahim F, et al. Clin Genet, 2024 Oct. PMID 39221575

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
      Title: A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
    2. The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
      Title: The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
    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.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    5. ARMC3_v2 was detected in human skeletal muscle, liver, spleen and thymus; in contrast, ARMC3_v1 in skeletal muscle, lung, prostate and testis
      Title: Cloning and expression of ARMC3_v2, a novel splicing variant of the human ARMC3 gene.
    6. KU-CT-1 is a new cancer testis antigen that is expressed in pancreatic, lung, and endometrial cancers
      Title: A novel cancer testis antigen that is frequently expressed in pancreatic, lung, and endometrial cancers.
    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
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25845, FLJ32827

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ribophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 3
    Names
    beta-catenin-like protein
    cancer/testis antigen 81

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001282745.2 → NP_001269674.1  armadillo repeat-containing protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001269674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK302985, AL139815, BC039312, CB240778
      Consensus CDS
      CCDS60500.1
      UniProtKB/Swiss-Prot
      Q5W041
      Related
      ENSP00000386943.3, ENST00000409983.7
      Conserved Domains (5) summary
      cd00020
      Location:145 → 259
      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, ...
      pfam13646
      Location:152 → 258
      HEAT_2; HEAT repeats
      pfam14381
      Location:713 → 851
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:106 → 137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    2. NM_001282746.2 → NP_001269675.1  armadillo repeat-containing protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001269675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA628128, AY436643, BC039312, BX115364, DB459427
      Consensus CDS
      CCDS60499.1
      UniProtKB/Swiss-Prot
      Q5W041
      Related
      ENSP00000387288.3, ENST00000409049.7
      Conserved Domains (4) summary
      cd00020
      Location:145 → 259
      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, ...
      pfam13646
      Location:152 → 258
      HEAT_2; HEAT repeats
      sd00044
      Location:106 → 137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    3. NM_001282747.2 → NP_001269676.1  armadillo repeat-containing protein 3 isoform 4

      See identical proteins and their annotated locations for NP_001269676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks three exons in the 5' region and uses a downstream start codon compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK302104, AL139815, BC039312, CB240778, DB459427
      Consensus CDS
      CCDS73073.1
      UniProtKB/TrEMBL
      B4DXS3
      Related
      ENSP00000365711.4, ENST00000376528.8
      Conserved Domains (4) summary
      cd00020
      Location:58 → 163
      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, ...
      pfam14381
      Location:457 → 595
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:13 → 38
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:95 → 120
      ARM; armadillo repeat [structural motif]

    4. NM_173081.5 → NP_775104.2  armadillo repeat-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_775104.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK302985, AL139815, BC039312, CB240778
      Consensus CDS
      CCDS7142.1
      UniProtKB/Swiss-Prot
      A0PG76, A6NH64, B4DZL3, B7ZBN6, B7ZBN7, Q5W041, Q8IXS5, Q8N7B0, Q96M49
      Related
      ENSP00000298032.5, ENST00000298032.10
      Conserved Domains (5) summary
      cd00020
      Location:145 → 259
      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, ...
      pfam13646
      Location:152 → 258
      HEAT_2; HEAT repeats
      pfam14381
      Location:720 → 858
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:106 → 137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      22928053..23038523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252380.4 → XP_005252437.1  armadillo repeat-containing protein 3 isoform X1

      Conserved Domains (4) summary
      cd00020
      Location:256 → 361
      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, ...
      pfam14381
      Location:655 → 793
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:187 → 242
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    2. XM_017015831.3 → XP_016871320.1  armadillo repeat-containing protein 3 isoform X2

    3. XM_005252381.3 → XP_005252438.1  armadillo repeat-containing protein 3 isoform X3

      Conserved Domains (4) summary
      cd00020
      Location:57 → 171
      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, ...
      pfam13646
      Location:64 → 170
      HEAT_2; HEAT repeats
      pfam14381
      Location:632 → 770
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00043
      Location:270 → 295
      ARM; armadillo repeat [structural motif]

    4. XM_011519350.4 → XP_011517652.1  armadillo repeat-containing protein 3 isoform X4

      Conserved Domains (4) summary
      cd00020
      Location:145 → 259
      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, ...
      pfam13646
      Location:152 → 258
      HEAT_2; HEAT repeats
      sd00044
      Location:106 → 137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    5. XM_017015832.3 → XP_016871321.1  armadillo repeat-containing protein 3 isoform X5

      Conserved Domains (4) summary
      cd00020
      Location:145 → 259
      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, ...
      pfam13646
      Location:152 → 258
      HEAT_2; HEAT repeats
      sd00044
      Location:106 → 137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:21 → 52
      ARM; armadillo repeat [structural motif]

    6. XM_017015833.3 → XP_016871322.1  armadillo repeat-containing protein 3 isoform X6

    7. XM_011519351.3 → XP_011517653.1  armadillo repeat-containing protein 3 isoform X7

      Conserved Domains (3) summary
      cd00020
      Location:11 → 105
      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, ...
      pfam14381
      Location:296 → 434
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00043
      Location:11 → 41
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      22947064..23057478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365001.1 → XP_054220976.1  armadillo repeat-containing protein 3 isoform X1

    2. XM_054365002.1 → XP_054220977.1  armadillo repeat-containing protein 3 isoform X2

    3. XM_054365003.1 → XP_054220978.1  armadillo repeat-containing protein 3 isoform X3

    4. XM_054365004.1 → XP_054220979.1  armadillo repeat-containing protein 3 isoform X4

    5. XM_054365005.1 → XP_054220980.1  armadillo repeat-containing protein 3 isoform X5

    6. XM_054365006.1 → XP_054220981.1  armadillo repeat-containing protein 3 isoform X6

    7. XM_054365007.1 → XP_054220982.1  armadillo repeat-containing protein 3 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W041.2 GenPept UniProtKB/Swiss-Prot:Q5W041

    Gene LinkOut

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