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    ARMC6 armadillo repeat containing 6 [ Homo sapiens (human) ]

    Gene ID: 93436, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ARMC6provided by HGNC
    Official Full Name
    armadillo repeat containing 6provided by HGNC
    Primary source
    HGNC:HGNC:25049
    See related
    Ensembl:ENSG00000105676 AllianceGenome:HGNC:25049
    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
    R30923_1
    Summary
    The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in testis (RPKM 8.5), liver (RPKM 7.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARMC6 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19033603..19058176)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19169394..19193996)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19144412..19168985)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10426 Neighboring gene homer scaffold protein 3 Neighboring gene HOMER3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 70, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19088899-19089543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19100696-19101196 Neighboring gene SURP and G-patch domain containing 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19136044-19137243 Neighboring gene NANOG hESC enhancer GRCh37_chr19:19143058-19143559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19162565-19163065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14335 Neighboring gene uncharacterized LOC124904655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10430 Neighboring gene solute carrier family 25 member 42 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19198769-19199269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19205587-19206086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:19207400-19208599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10431 Neighboring gene Sharpr-MPRA regulatory region 5014

    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. Human ARMC6 binds in vitro to both cancer genes and telomeric RNA, favoring G-quadruplex structure recognition. Adámik M, et al. Biochim Biophys Acta Gene Regul Mech, 2024 Sep. PMID 39029558
    2. An armadillo-domain protein participates in a telomerase interaction network. Dokládal L, et al. Plant Mol Biol, 2018 Jul. PMID 29948659
    3. A pancreatic cancer-specific expression profile. Gress TM, et al. Oncogene, 1996 Oct 17. PMID 8895530
    4. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. Scifo E, et al. J Proteome Res, 2013 May 3. PMID 23464991
    5. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Hu WF, et al. Cell Death Discov, 2019. PMID 31240132, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human ARMC6 binds in vitro to both cancer genes and telomeric RNA, favoring G-quadruplex structure recognition.
      Title: Human ARMC6 binds in vitro to both cancer genes and telomeric RNA, favoring G-quadruplex structure recognition.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19595

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in hematopoietic progenitor cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    armadillo repeat-containing protein 6

    NCBI Reference Sequences (RefSeq)

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    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_001199196.2 → NP_001186125.1  armadillo repeat-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001186125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC067125, BQ012036, CX869901
      Consensus CDS
      CCDS56089.1
      UniProtKB/Swiss-Prot
      B4DI98, O94999, Q6NXE6, Q9BTH5
      UniProtKB/TrEMBL
      B4E1N1
      Related
      ENSP00000444156.1, ENST00000535612.6
      Conserved Domains (2) summary
      cd00020
      Location:171 → 304
      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, ...
      sd00043
      Location:313 → 354
      ARM; armadillo repeat [structural motif]

    2. NM_033415.4 → NP_219483.1  armadillo repeat-containing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_219483.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK295488, AW615748, CX869901
      Consensus CDS
      CCDS32965.1
      UniProtKB/TrEMBL
      B4E1N1
      Related
      ENSP00000376147.2, ENST00000392335.6
      Conserved Domains (2) summary
      smart00185
      Location:184 → 226
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:288 → 329
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19033603..19058176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439714.1 → XP_047295670.1  armadillo repeat-containing protein 6 isoform X2

      UniProtKB/Swiss-Prot
      B4DI98, O94999, Q6NXE6, Q9BTH5

    2. XM_017027484.3 → XP_016882973.1  armadillo repeat-containing protein 6 isoform X1

    3. XM_047439715.1 → XP_047295671.1  armadillo repeat-containing protein 6 isoform X3

    4. XM_047439716.1 → XP_047295672.1  armadillo repeat-containing protein 6 isoform X4

    5. XM_047439717.1 → XP_047295673.1  armadillo repeat-containing protein 6 isoform X5

    6. XM_047439718.1 → XP_047295674.1  armadillo repeat-containing protein 6 isoform X1

    7. XM_005260157.4 → XP_005260214.1  armadillo repeat-containing protein 6 isoform X4

      See identical proteins and their annotated locations for XP_005260214.1

      UniProtKB/TrEMBL
      B4E1N1
      Related
      ENSP00000269932.6, ENST00000269932.10
      Conserved Domains (2) summary
      smart00185
      Location:184 → 226
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:288 → 329
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19169394..19193996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322673.1 → XP_054178648.1  armadillo repeat-containing protein 6 isoform X2

      UniProtKB/Swiss-Prot
      B4DI98, O94999, Q6NXE6, Q9BTH5

    2. XM_054322672.1 → XP_054178647.1  armadillo repeat-containing protein 6 isoform X1

    3. XM_054322674.1 → XP_054178649.1  armadillo repeat-containing protein 6 isoform X3

    4. XM_054322677.1 → XP_054178652.1  armadillo repeat-containing protein 6 isoform X1

    5. XM_054322675.1 → XP_054178650.1  armadillo repeat-containing protein 6 isoform X4

    6. XM_054322676.1 → XP_054178651.1  armadillo repeat-containing protein 6 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NXE6.2 GenPept UniProtKB/Swiss-Prot:Q6NXE6

    Gene LinkOut

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

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