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

Gene ID: 219681, updated on 5-Mar-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
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Genomic context

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Location:
10p12.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22928053..23038523)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22947064..23057478)
105.20220307 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 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
  3. Cloning and expression of ARMC3_v2, a novel splicing variant of the human ARMC3 gene. Li X, et al. Genetika, 2006 Jul. PMID 16915934
  4. 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
  5. The transcriptional signature associated with human motile cilia. Patir A, et al. Sci Rep, 2020 Jul 2. PMID 32616903, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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).
  2. 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.
  3. 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.
  4. 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.
  5. 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)

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

  • 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_2023_10

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

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