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    ARMCX3 armadillo repeat containing X-linked 3 [ Homo sapiens (human) ]

    Gene ID: 51566, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ARMCX3provided by HGNC
    Official Full Name
    armadillo repeat containing X-linked 3provided by HGNC
    Primary source
    HGNC:HGNC:24065
    See related
    Ensembl:ENSG00000102401 MIM:300364; AllianceGenome:HGNC:24065
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALEX3; GASP6; dJ545K15.2
    Summary
    This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 17.0), thyroid (RPKM 15.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ARMCX3 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101623151..101627843)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100067782..100072474)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100878141..100882833)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing X-linked 7, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:100868599-100869161 Neighboring gene armadillo repeat containing X-linked 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29812 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:100878731-100879930 Neighboring gene RNA, U6 small nuclear 30, pseudogene Neighboring gene armadillo repeat containing X-linked 2

    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. The non-canonical Wnt/PKC pathway regulates mitochondrial dynamics through degradation of the arm-like domain-containing protein Alex3. Serrat R, et al. PLoS One, 2013. PMID 23844091, Free PMC Article
    2. ALEX1, a novel human armadillo repeat protein that is expressed differentially in normal tissues and carcinomas. Kurochkin IV, et al. Biochem Biophys Res Commun, 2001 Jan 12. PMID 11162520
    3. Alex3 suppresses non-small cell lung cancer invasion via AKT/Slug/E-cadherin pathway. Du J, et al. Tumour Biol, 2017 Jul. PMID 28705116
    4. The armadillo repeat-containing protein, ARMCX3, physically and functionally interacts with the developmental regulatory factor Sox10. Mou Z, et al. J Biol Chem, 2009 May 15. PMID 19304657, Free PMC Article
    5. The Eutherian Armcx genes regulate mitochondrial trafficking in neurons and interact with Miro and Trak2. López-Doménech G, et al. Nat Commun, 2012 May 8. PMID 22569362

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • KIAA0443, MGC12199, DKFZp781N1954

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonal transport of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    armadillo repeat-containing X-linked protein 3
    Names
    ARM protein lost in epithelial cancers on chromosome X 3
    arm protein lost in epithelial cancers, X chromosome, 3

    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.

    Genomic

    1. NG_013222.2 RefSeqGene

      Range
      5002..9694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016607.4 → NP_057691.1  armadillo repeat-containing X-linked protein 3

      See identical proteins and their annotated locations for NP_057691.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC234775, BC005194, BG035798, BM905704, BX647802
      Consensus CDS
      CCDS14489.1
      UniProtKB/Swiss-Prot
      Q53HC6, Q7LCF5, Q9NPE4, Q9UH62
      UniProtKB/TrEMBL
      A8K5B0
      Related
      ENSP00000340672.4, ENST00000341189.8
      Conserved Domains (2) summary
      sd00043
      Location:156 → 190
      ARM; armadillo repeat [structural motif]
      pfam04826
      Location:112 → 363
      Arm_2; Armadillo-like

    2. NM_177947.3 → NP_808816.1  armadillo repeat-containing X-linked protein 3

      See identical proteins and their annotated locations for NP_808816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC234775, BC005194, BG035798, BX647802
      Consensus CDS
      CCDS14489.1
      UniProtKB/Swiss-Prot
      Q53HC6, Q7LCF5, Q9NPE4, Q9UH62
      UniProtKB/TrEMBL
      A8K5B0
      Related
      ENSP00000454483.1, ENST00000471229.7
      Conserved Domains (2) summary
      sd00043
      Location:156 → 190
      ARM; armadillo repeat [structural motif]
      pfam04826
      Location:112 → 363
      Arm_2; Armadillo-like

    3. NM_177948.3 → NP_808817.1  armadillo repeat-containing X-linked protein 3

      See identical proteins and their annotated locations for NP_808817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1, and represents the shortest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC234775, BC005194, BM905704, BX647802, CA397688
      Consensus CDS
      CCDS14489.1
      UniProtKB/Swiss-Prot
      Q53HC6, Q7LCF5, Q9NPE4, Q9UH62
      UniProtKB/TrEMBL
      A8K5B0
      Related
      ENSP00000439032.1, ENST00000537169.1
      Conserved Domains (2) summary
      sd00043
      Location:156 → 190
      ARM; armadillo repeat [structural motif]
      pfam04826
      Location:112 → 363
      Arm_2; Armadillo-like

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101623151..101627843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262141.4 → XP_005262198.1  armadillo repeat-containing X-linked protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005262198.1

      UniProtKB/Swiss-Prot
      Q53HC6, Q7LCF5, Q9NPE4, Q9UH62
      UniProtKB/TrEMBL
      A8K5B0
      Conserved Domains (2) summary
      sd00043
      Location:156 → 190
      ARM; armadillo repeat [structural motif]
      pfam04826
      Location:112 → 363
      Arm_2; Armadillo-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      100067782..100072474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327180.1 → XP_054183155.1  armadillo repeat-containing X-linked protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q53HC6, Q7LCF5, Q9NPE4, Q9UH62
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UH62.1 GenPept UniProtKB/Swiss-Prot:Q9UH62

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