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

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001282745.2NP_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:145259
      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:152258
      HEAT_2; HEAT repeats
      pfam14381
      Location:713851
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:106137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      ARM; armadillo repeat [structural motif]
    2. NM_001282746.2NP_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:145259
      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:152258
      HEAT_2; HEAT repeats
      sd00044
      Location:106137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      ARM; armadillo repeat [structural motif]
    3. NM_001282747.2NP_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:58163
      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:457595
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:1338
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:95120
      ARM; armadillo repeat [structural motif]
    4. NM_173081.5NP_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:145259
      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:152258
      HEAT_2; HEAT repeats
      pfam14381
      Location:720858
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:106137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      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_005252380.4XP_005252437.1  armadillo repeat-containing protein 3 isoform X1

      Conserved Domains (4) summary
      cd00020
      Location:256361
      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:655793
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00044
      Location:187242
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      ARM; armadillo repeat [structural motif]
    2. XM_017015831.3XP_016871320.1  armadillo repeat-containing protein 3 isoform X2

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

      Conserved Domains (4) summary
      cd00020
      Location:57171
      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:64170
      HEAT_2; HEAT repeats
      pfam14381
      Location:632770
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00043
      Location:270295
      ARM; armadillo repeat [structural motif]
    4. XM_011519350.4XP_011517652.1  armadillo repeat-containing protein 3 isoform X4

      Conserved Domains (4) summary
      cd00020
      Location:145259
      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:152258
      HEAT_2; HEAT repeats
      sd00044
      Location:106137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      ARM; armadillo repeat [structural motif]
    5. XM_017015832.3XP_016871321.1  armadillo repeat-containing protein 3 isoform X5

      Conserved Domains (4) summary
      cd00020
      Location:145259
      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:152258
      HEAT_2; HEAT repeats
      sd00044
      Location:106137
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:2152
      ARM; armadillo repeat [structural motif]
    6. XM_017015833.3XP_016871322.1  armadillo repeat-containing protein 3 isoform X6

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

      Conserved Domains (3) summary
      cd00020
      Location:11105
      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:296434
      EDR1; Ethylene-responsive protein kinase Le-CTR1
      sd00043
      Location:1141
      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_054365001.1XP_054220976.1  armadillo repeat-containing protein 3 isoform X1

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

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

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

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

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

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