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    ARMC5 armadillo repeat containing 5 [ Homo sapiens (human) ]

    Gene ID: 79798, updated on 1-Jul-2024

    Summary

    Official Symbol
    ARMC5provided by HGNC
    Official Full Name
    armadillo repeat containing 5provided by HGNC
    Primary source
    HGNC:HGNC:25781
    See related
    Ensembl:ENSG00000140691 MIM:615549; AllianceGenome:HGNC:25781
    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
    AIMAH2
    Summary
    This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.5), spleen (RPKM 2.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARMC5 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31458304..31467167)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31845692..31854555)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31469625..31478488)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 6A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31446802-31447302 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31447884-31448054 Neighboring gene zinc finger protein 843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31453737-31454532 Neighboring gene Sharpr-MPRA regulatory region 15326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31464004-31464776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31464777-31465548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31468736-31469304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31469952-31470492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31483812-31484352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31486867-31487599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31487600-31488331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31488332-31489064 Neighboring gene transforming growth factor beta 1 induced transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31500209-31500868 Neighboring gene solute carrier family 5 member 2 Neighboring gene RUS family member 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ00019, FLJ13063

    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 CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adrenal cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    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
     
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    armadillo repeat-containing protein 5

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_034258.1 RefSeqGene

      Range
      6229..13893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105247.2NP_001098717.1  armadillo repeat-containing protein 5 isoform a

      See identical proteins and their annotated locations for NP_001098717.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate 5' UTR and initiates translation at a downstream AUG codon, compared to variant 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform c.
      Source sequence(s)
      AC026471
      Consensus CDS
      CCDS45472.1
      UniProtKB/Swiss-Prot
      Q86WM9, Q96C12, Q9H7P8, Q9H925
      UniProtKB/TrEMBL
      B4DH27
      Related
      ENSP00000268314.4, ENST00000268314.9
      Conserved Domains (2) summary
      cd00020
      Location:148258
      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:149181
      ARM; armadillo repeat [structural motif]
    2. NM_001288767.2NP_001275696.1  armadillo repeat-containing protein 5 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c).
      Source sequence(s)
      AK294897, AK295790, BC014945
      Consensus CDS
      CCDS73874.1
      UniProtKB/TrEMBL
      B4DIU9, J3KQ26
      Related
      ENSP00000386125.3, ENST00000408912.7
      Conserved Domains (2) summary
      cd00020
      Location:243353
      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:244276
      ARM; armadillo repeat [structural motif]
    3. NM_001301820.1NP_001288749.1  armadillo repeat-containing protein 5 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 3. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform c.
      Source sequence(s)
      AK294897, AK295790, AY217348, BC014945
      UniProtKB/TrEMBL
      B4DH27
      Conserved Domains (1) summary
      sd00043
      Location:181213
      ARM; armadillo repeat [structural motif]
    4. NM_024742.2NP_079018.1  armadillo repeat-containing protein 5 isoform b precursor

      See identical proteins and their annotated locations for NP_079018.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 3. These differences cause translation initiation at a downstream AUG and a different 3' coding sequence. The resulting isoform (b) has a shorter N-terminus and a distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AY217348, BC014945
      Consensus CDS
      CCDS42155.1
      UniProtKB/Swiss-Prot
      Q96C12
      Related
      ENSP00000399561.2, ENST00000457010.6
      Conserved Domains (2) summary
      cd00020
      Location:148258
      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:149181
      ARM; armadillo repeat [structural motif]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31458304..31467167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721091.4XP_006721154.1  armadillo repeat-containing protein 5 isoform X1

      UniProtKB/TrEMBL
      B4DH27
      Conserved Domains (1) summary
      sd00043
      Location:181213
      ARM; armadillo repeat [structural motif]
    2. XM_047434651.1XP_047290607.1  armadillo repeat-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      B4DH27

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31845692..31854555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313948.1XP_054169923.1  armadillo repeat-containing protein 5 isoform X1

      UniProtKB/TrEMBL
      B4DH27
    2. XM_054313949.1XP_054169924.1  armadillo repeat-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      B4DH27