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

Gene ID: 79798, updated on 26-Sep-2021

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
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
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Genomic context

See ARMC5 in Genome Data Viewer
Location:
16p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31458273..31467167)
105.20201022 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 zinc finger protein 843 Neighboring gene transforming growth factor beta 1 induced transcript 1 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

Homology

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 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 
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)

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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_034258.1 RefSeqGene

    Range
    5032..13893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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
    Q96C12
    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/Swiss-Prot
    Q96C12
    UniProtKB/TrEMBL
    B4DH27, 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/Swiss-Prot
    Q96C12
    UniProtKB/TrEMBL
    B4DH27, B4DIU9
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    31458273..31467167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450448.1XP_024306216.1  armadillo repeat-containing protein 5 isoform X1

    Conserved Domains (1) summary
    sd00043
    Location:181213
    ARM; armadillo repeat [structural motif]
  2. XM_024450449.1XP_024306217.1  armadillo repeat-containing protein 5 isoform X2

    Conserved Domains (1) summary
    sd00043
    Location:181213
    ARM; armadillo repeat [structural motif]
  3. XM_006721091.3XP_006721154.1  armadillo repeat-containing protein 5 isoform X1

    Conserved Domains (1) summary
    sd00043
    Location:181213
    ARM; armadillo repeat [structural motif]
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