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    ARMH3 armadillo like helical domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 79591, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ARMH3provided by HGNC
    Official Full Name
    armadillo like helical domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:25788
    See related
    Ensembl:ENSG00000120029 AllianceGenome:HGNC:25788
    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
    DGARM; C10orf76
    Summary
    Involved in regulation of Golgi organization. Located in Golgi membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 8.1), esophagus (RPKM 4.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ARMH3 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101845599..102056173, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (102729087..102941253, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103605356..103815930, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103577734-103578309 Neighboring gene Sharpr-MPRA regulatory region 4495 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103587343-103588542 Neighboring gene KCNIP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2730 Neighboring gene O-GlcNAcase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103590597-103591113 Neighboring gene Sharpr-MPRA regulatory region 3638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103596213-103596713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103603069-103603574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2734 Neighboring gene uncharacterized LOC101927445 Neighboring gene potassium voltage-gated channel interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:103662223-103662886 Neighboring gene uncharacterized LOC124902492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103698366-103699565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103795088-103795895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2738 Neighboring gene HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103867277-103867778 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103870016-103871215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103876901-103877603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103877604-103878305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2745 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103880011-103880762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103880763-103881514 Neighboring gene LIM domain binding 1 Neighboring gene PPARG related coactivator 1

    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. Characterization of the c10orf76-PI4KB complex and its necessity for Golgi PI4P levels and enterovirus replication. McPhail JA, et al. EMBO Rep, 2020 Feb 5. PMID 31829496, Free PMC Article
    2. The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi. Mizuike A, et al. J Cell Biol, 2023 Jul 3. PMID 37195633, Free PMC Article
    3. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. Greninger AL, et al. mBio, 2013 Apr 9. PMID 23572552, Free PMC Article
    4. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    5. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. Rietveld CA, et al. Proc Natl Acad Sci U S A, 2014 Sep 23. PMID 25201988, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
      Title: The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog

    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

    • FLJ13114, MGC125927

    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 regulation of Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    armadillo-like helical domain-containing protein 3
    Names
    UPF0668 protein C10orf76
    distal Golgi armadillo repeat protein

    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.

    mRNA and Protein(s)

    1. NM_024541.3 → NP_078817.2  armadillo-like helical domain-containing protein 3

      See identical proteins and their annotated locations for NP_078817.2

      Status: VALIDATED

      Source sequence(s)
      AK023176, AK097972, AW936405, DA020448, DA311439, DR002231, DT932690
      Consensus CDS
      CCDS41563.1
      UniProtKB/Swiss-Prot
      Q2TB87, Q5T2E6, Q9H8Z9
      Related
      ENSP00000359050.4, ENST00000370033.9
      Conserved Domains (1) summary
      pfam08427
      Location:441 → 669
      DUF1741; Domain of unknown function (DUF1741)

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101845599..102056173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425735.1 → XP_047281691.1  armadillo-like helical domain-containing protein 3 isoform X9

    2. XM_011540157.3 → XP_011538459.1  armadillo-like helical domain-containing protein 3 isoform X5

      Conserved Domains (1) summary
      pfam08427
      Location:390 → 618
      DUF1741; Domain of unknown function (DUF1741)

    3. XM_011540154.3 → XP_011538456.1  armadillo-like helical domain-containing protein 3 isoform X7

      See identical proteins and their annotated locations for XP_011538456.1

      Conserved Domains (1) summary
      pfam08427
      Location:385 → 613
      DUF1741; Domain of unknown function (DUF1741)

    4. XM_047425737.1 → XP_047281693.1  armadillo-like helical domain-containing protein 3 isoform X11

    5. XM_011540153.3 → XP_011538455.1  armadillo-like helical domain-containing protein 3 isoform X4

      See identical proteins and their annotated locations for XP_011538455.1

      Conserved Domains (1) summary
      pfam08427
      Location:407 → 635
      DUF1741; Domain of unknown function (DUF1741)

    6. XM_047425736.1 → XP_047281692.1  armadillo-like helical domain-containing protein 3 isoform X10

    7. XM_011540152.3 → XP_011538454.1  armadillo-like helical domain-containing protein 3 isoform X2

      See identical proteins and their annotated locations for XP_011538454.1

      Conserved Domains (1) summary
      pfam08427
      Location:419 → 647
      DUF1741; Domain of unknown function (DUF1741)

    8. XM_006717969.1 → XP_006718032.1  armadillo-like helical domain-containing protein 3 isoform X8

      Conserved Domains (1) summary
      pfam08427
      Location:441 → 599
      DUF1741; Domain of unknown function (DUF1741)

    9. XM_047425734.1 → XP_047281690.1  armadillo-like helical domain-containing protein 3 isoform X8

    10. XM_011540151.4 → XP_011538453.1  armadillo-like helical domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011538453.1

      UniProtKB/Swiss-Prot
      Q2TB87, Q5T2E6, Q9H8Z9
      Conserved Domains (1) summary
      pfam08427
      Location:441 → 669
      DUF1741; Domain of unknown function (DUF1741)

    11. XM_011540156.3 → XP_011538458.1  armadillo-like helical domain-containing protein 3 isoform X14

      Conserved Domains (1) summary
      pfam08427
      Location:267 → 495
      DUF1741; Domain of unknown function (DUF1741)

    12. XM_017016635.2 → XP_016872124.1  armadillo-like helical domain-containing protein 3 isoform X3

      Conserved Domains (1) summary
      pfam08427
      Location:441 → 620
      DUF1741; Domain of unknown function (DUF1741)

    13. XM_047425733.1 → XP_047281689.1  armadillo-like helical domain-containing protein 3 isoform X6

    14. XM_017016636.3 → XP_016872125.1  armadillo-like helical domain-containing protein 3 isoform X6

      Conserved Domains (1) summary
      pfam08427
      Location:441 → 620
      DUF1741; Domain of unknown function (DUF1741)

    15. XM_047425740.1 → XP_047281696.1  armadillo-like helical domain-containing protein 3 isoform X13

    16. XM_047425738.1 → XP_047281694.1  armadillo-like helical domain-containing protein 3 isoform X12

    RNA

    1. XR_001747199.2 RNA Sequence

    2. XR_007061987.1 RNA Sequence

    3. XR_007061988.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102729087..102941253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366718.1 → XP_054222693.1  armadillo-like helical domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q2TB87, Q5T2E6, Q9H8Z9

    2. XM_054366726.1 → XP_054222701.1  armadillo-like helical domain-containing protein 3 isoform X8

    3. XM_054366727.1 → XP_054222702.1  armadillo-like helical domain-containing protein 3 isoform X9

    4. XM_054366722.1 → XP_054222697.1  armadillo-like helical domain-containing protein 3 isoform X5

    5. XM_054366724.1 → XP_054222699.1  armadillo-like helical domain-containing protein 3 isoform X7

    6. XM_054366729.1 → XP_054222704.1  armadillo-like helical domain-containing protein 3 isoform X11

    7. XM_054366721.1 → XP_054222696.1  armadillo-like helical domain-containing protein 3 isoform X4

    8. XM_054366728.1 → XP_054222703.1  armadillo-like helical domain-containing protein 3 isoform X10

    9. XM_054366719.1 → XP_054222694.1  armadillo-like helical domain-containing protein 3 isoform X2

    10. XM_054366725.1 → XP_054222700.1  armadillo-like helical domain-containing protein 3 isoform X8

    11. XM_054366732.1 → XP_054222707.1  armadillo-like helical domain-containing protein 3 isoform X14

    12. XM_054366720.1 → XP_054222695.1  armadillo-like helical domain-containing protein 3 isoform X3

    13. XM_054366723.1 → XP_054222698.1  armadillo-like helical domain-containing protein 3 isoform X6

    14. XM_054366731.1 → XP_054222706.1  armadillo-like helical domain-containing protein 3 isoform X13

    15. XM_054366730.1 → XP_054222705.1  armadillo-like helical domain-containing protein 3 isoform X12

    RNA

    1. XR_008488263.1 RNA Sequence

    2. XR_008488264.1 RNA Sequence

    3. XR_008488265.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T2E6.1 GenPept UniProtKB/Swiss-Prot:Q5T2E6

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