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

Gene ID: 219681, updated on 12-Oct-2019

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
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; 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

Genomic context

See ARMC3 in Genome Data Viewer
Location:
10p12.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (22928024..23038527)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23216954..23327452)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 413, pseudogene Neighboring gene uncharacterized LOC105376451 Neighboring gene uncharacterized LOC107984215 Neighboring gene RNA, 5S ribosomal pseudogene 304 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

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • FLJ25845, FLJ32827

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001282747.1NP_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/Swiss-Prot
    Q5W041
    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
    Q5W041
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    22928024..23038527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252380.3XP_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_017015831.2XP_016871320.1  armadillo repeat-containing protein 3 isoform X2

  3. XM_011519350.3XP_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]
  4. XM_017015832.2XP_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]
  5. XM_017015833.2XP_016871322.1  armadillo repeat-containing protein 3 isoform X6

  6. XM_005252381.2XP_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]
  7. XM_011519351.2XP_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]
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