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    ARMCX6 armadillo repeat containing X-linked 6 [ Homo sapiens (human) ]

    Gene ID: 54470, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ARMCX6provided by HGNC
    Official Full Name
    armadillo repeat containing X-linked 6provided by HGNC
    Primary source
    HGNC:HGNC:26094
    See related
    Ensembl:ENSG00000198960 MIM:301048; AllianceGenome:HGNC:26094
    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
    GASP10
    Summary
    Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 13.9), endometrium (RPKM 12.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARMCX6 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 (101615125..101618000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100059755..100062630, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100870115..100872990, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing X-linked 1 Neighboring gene armadillo repeat containing X-linked 7, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:100868599-100869161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29812 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:100878731-100879930 Neighboring gene armadillo repeat containing X-linked 3 Neighboring gene RNA, U6 small nuclear 30, 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. An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease. Zhang X, et al. J Alzheimers Dis, 2024. PMID 38489177
    2. 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
    3. 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
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    5. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease.
      Title: An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20811

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein ARMCX6

    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_021313.2 RefSeqGene

      Range
      5000..7875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009584.2 → NP_001009584.1  protein ARMCX6

      See identical proteins and their annotated locations for NP_001009584.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AI076820, BC007677
      Consensus CDS
      CCDS14488.1
      UniProtKB/Swiss-Prot
      Q7L4S7, Q9NWJ3
      Related
      ENSP00000440648.1, ENST00000538627.5
      Conserved Domains (1) summary
      pfam04826
      Location:123 → 295
      Arm_2; Armadillo-like

    2. NM_001184768.2 → NP_001171697.1  protein ARMCX6

      See identical proteins and their annotated locations for NP_001171697.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      BC007677, DA933518
      Consensus CDS
      CCDS14488.1
      UniProtKB/Swiss-Prot
      Q7L4S7, Q9NWJ3
      Related
      ENSP00000444537.1, ENST00000539247.5
      Conserved Domains (1) summary
      pfam04826
      Location:123 → 295
      Arm_2; Armadillo-like

    3. NM_019007.4 → NP_061880.2  protein ARMCX6

      See identical proteins and their annotated locations for NP_061880.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AI076820, BC007677
      Consensus CDS
      CCDS14488.1
      UniProtKB/Swiss-Prot
      Q7L4S7, Q9NWJ3
      Related
      ENSP00000354708.4, ENST00000361910.9
      Conserved Domains (1) summary
      pfam04826
      Location:123 → 295
      Arm_2; Armadillo-like

    RNA

    1. NR_033669.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks most of the coding region compared to variant 1. This variant is not thought to be protein-coding.
      Source sequence(s)
      AI076820, BX423052
      Related
      ENST00000497931.5

    2. NR_033670.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks most of the coding region compared to variant 1. This variant is not thought to be protein-coding.
      Source sequence(s)
      AI076820, AW955663, BC007677, BX423052

    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
      101615125..101618000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530976.3 → XP_011529278.1  protein ARMCX6 isoform X1

      Conserved Domains (1) summary
      pfam04826
      Location:186 → 358
      Arm_2; Armadillo-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      100059755..100062630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327272.1 → XP_054183247.1  protein ARMCX6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L4S7.1 GenPept UniProtKB/Swiss-Prot:Q7L4S7

    Gene LinkOut

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