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    ARMCX4 armadillo repeat containing X-linked 4 [ Homo sapiens (human) ]

    Gene ID: 100131755, updated on 8-Mar-2024

    Summary

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    Official Symbol
    ARMCX4provided by HGNC
    Official Full Name
    armadillo repeat containing X-linked 4provided by HGNC
    Primary source
    HGNC:HGNC:28615
    See related
    Ensembl:ENSG00000196440 MIM:301046; AllianceGenome:HGNC:28615
    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
    GASP4; CXorf35
    Summary
    The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 3.6), brain (RPKM 2.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq22.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101418278..101535988)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99862393..99980621)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100673266..100790975)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene heterogeneous nuclear ribonucleoprotein H2 Neighboring gene galactosidase alpha Neighboring gene peptidylprolyl isomerase A pseudogene 90 Neighboring gene PRKCI pseudogene 1 Neighboring gene armadillo repeat containing X-linked 1 Neighboring gene armadillo repeat containing X-linked 7, pseudogene

    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 armadillo family of structural proteins. Hatzfeld M. Int Rev Cytol, 1999. PMID 9770300
    2. A repeating amino acid motif shared by proteins with diverse cellular roles. Peifer M, et al. Cell, 1994 Mar 11. PMID 7907279
    3. 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
    4. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. Winter EE, et al. BMC Evol Biol, 2005 Oct 12. PMID 16221301, Free PMC Article
    5. The full-ORF clone resource of the German cDNA Consortium. Bechtel S, et al. BMC Genomics, 2007 Oct 31. PMID 17974005, Free PMC Article

    See all (15) 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

    Potential readthrough

    Included gene: ARMCX1

    Homology

    Clone Names

    • FLJ39636, FLJ43051, FLJ45041, MGC40053, DKFZp586N0819, DKFZp781M0415

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    armadillo repeat-containing X-linked protein 4
    Names
    armadillo repeat containing, X-linked 4 pseudogene

    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_017196.3 RefSeqGene

      Range
      72179..82530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256155.3 → NP_001243084.2  armadillo repeat-containing X-linked protein 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a protein-coding variant and contains a long, terminal coding exon instead of extensive splicing found in variant 2. The full extent of the 5' UTR has not been determined.
      Source sequence(s)
      KF459252, Z68873
      Consensus CDS
      CCDS59170.1
      UniProtKB/Swiss-Prot
      A8K928, B3KXA4, F8W8Y7, Q5H9K8, Q5H9R4, Q8N8D6
      Related
      ENSP00000404304.3, ENST00000423738.5
      Conserved Domains (3) summary
      PRK07735
      Location:84 → 320
      PRK07735; NADH-quinone oxidoreductase subunit C
      pfam04826
      Location:2032 → 2283
      Arm_2; Armadillo-like
      pfam06682
      Location:1514 → 1646
      SARAF; SOCE-associated regulatory factor of calcium homoeostasis

    RNA

    1. NR_028407.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC234775, AL035422, Z68873

    2. NR_045861.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC234775, Z68873

    3. NR_045862.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC234775, Z68873

    4. NR_045863.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      Z68873
      Related
      ENST00000445416.5

    5. NR_045864.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC234775, Z68873

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101418278..101535988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99862393..99980621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152583.2: Suppressed sequence

      Description
      NM_152583.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9R4.3 GenPept UniProtKB/Swiss-Prot:Q5H9R4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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