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

Gene ID: 93436, updated on 1-Jun-2020

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
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

Genomic context

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See ARMC6 in Genome Data Viewer
Location:
19p13.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19033603..19058176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19144387..19168987)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985268 Neighboring gene RNA, 7SL, cytoplasmic 70, pseudogene Neighboring gene SURP and G-patch domain containing 2 Neighboring gene solute carrier family 25 member 42 Neighboring gene transmembrane protein 161A

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. A pancreatic cancer-specific expression profile. Gress TM, et al. Oncogene, 1996 Oct 17. PMID 8895530
  2. 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
  3. 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
  4. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636, Free PMC Article
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. Wang T, et al. Neurobiol Aging, 2015 Jan. PMID 25192599

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

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)

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

  • MGC19595

Gene Ontology Provided by GOA

Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
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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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
    Q6NXE6
    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/Swiss-Prot
    Q6NXE6
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005260157.3 → XP_005260214.1  armadillo repeat-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_005260214.1

    UniProtKB/Swiss-Prot
    Q6NXE6
    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]

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

  3. XM_017027485.2 → XP_016882974.1  armadillo repeat-containing protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q6NXE6
    Conserved Domains (2) summary
    smart00185
    Location:184 → 226
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:288 → 329
    ARM; armadillo repeat [structural motif]

RNA

  1. XR_001753798.2 RNA Sequence

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

Gene LinkOut

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