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    ARMC8 armadillo repeat containing 8 [ Homo sapiens (human) ]

    Gene ID: 25852, updated on 19-Jun-2019

    Summary

    Official Symbol
    ARMC8provided by HGNC
    Official Full Name
    armadillo repeat containing 8provided by HGNC
    Primary source
    HGNC:HGNC:24999
    See related
    Ensembl:ENSG00000114098
    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
    GID5; VID28; S863-2; HSPC056
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.0), thyroid (RPKM 5.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See ARMC8 in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (138187248..138298389)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137906115..138017231)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene debranching RNA lariats 1 Neighboring gene NME/NM23 family member 9 Neighboring gene muscle RAS oncogene homolog Neighboring gene uncharacterized LOC105374129

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC4880, MGC10058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    GID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    armadillo repeat-containing protein 8
    Names
    GID complex subunit 5, VID28 homolog

    NCBI Reference Sequences (RefSeq)

    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_001267041.2NP_001253970.1  armadillo repeat-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001253970.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK296837, AK299769, AL096748, BQ014283, HY004298
      Consensus CDS
      CCDS58854.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      UniProtKB/TrEMBL
      B7Z637
      Related
      ENSP00000441592.1, ENST00000538260.5
      Conserved Domains (4) summary
      COG5369
      Location:343576
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:522552
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:5790
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:22181
      Arm_3; Atypical Arm repeat
    2. NM_001267042.3NP_001253971.1  armadillo repeat-containing protein 8 isoform 4

      See identical proteins and their annotated locations for NP_001253971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and has multiple differences in the coding region, including the use of an alternate start codon, compared to variant 1. The encoded isoform (4) is longer and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK296757, AL096748, BQ014283, CX167429
      Consensus CDS
      CCDS58853.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      Related
      ENSP00000420706.1, ENST00000461822.5
      Conserved Domains (4) summary
      COG5369
      Location:307540
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:486516
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:5790
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:28414
      Arm_3; Atypical Arm repeat
    3. NM_001282342.2NP_001269271.1  armadillo repeat-containing protein 8 isoform 5

      See identical proteins and their annotated locations for NP_001269271.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' and 3' UTRs and has multiple differences in the coding region, including the use of a downstream start codon, compared to variant 1. The encoded isoform (5) is longer and has a shorter N-terminus and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK299769, AL096748, BQ014283
      Consensus CDS
      CCDS75020.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      UniProtKB/TrEMBL
      B7Z637
      Related
      ENSP00000417049.1, ENST00000485396.5
      Conserved Domains (4) summary
      COG5064
      Location:3139
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      COG5369
      Location:301534
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:480510
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:1548
      ARM; armadillo repeat [structural motif]
    4. NM_001363941.2NP_001350870.1  armadillo repeat-containing protein 8 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC022337, AC068777
      Consensus CDS
      CCDS87139.1
      Conserved Domains (4) summary
      COG5369
      Location:374607
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:553583
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:5790
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:49212
      Arm_3; Atypical Arm repeat
    5. NM_001363942.1NP_001350871.1  armadillo repeat-containing protein 8 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC022337, AC068777
      Consensus CDS
      CCDS87140.1
      Conserved Domains (4) summary
      COG5369
      Location:332565
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:511541
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:1548
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:7170
      Arm_3; Atypical Arm repeat
    6. NM_014154.4NP_054873.2  armadillo repeat-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_054873.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1). Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AK289577, BC013424, DC342329, HY004298
      Consensus CDS
      CCDS3098.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      Related
      ENSP00000420440.1, ENST00000471453.5
      Conserved Domains (2) summary
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:35198
      Arm_3; Atypical Arm repeat
    7. NM_015396.6NP_056211.2  armadillo repeat-containing protein 8 isoform 2

      See identical proteins and their annotated locations for NP_056211.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes multiple additional exons in the coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL096748, BC041699, BQ014283, HY004298
      Consensus CDS
      CCDS54646.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      Related
      ENSP00000420333.1, ENST00000481646.5
      Conserved Domains (4) summary
      COG5369
      Location:360593
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:539569
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:35198
      Arm_3; Atypical Arm repeat
    8. NM_213654.3NP_998819.1  armadillo repeat-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_998819.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC013424, HY004298
      Consensus CDS
      CCDS3098.1
      UniProtKB/Swiss-Prot
      Q8IUR7
      Related
      ENSP00000351221.2, ENST00000358441.6
      Conserved Domains (2) summary
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:35198
      Arm_3; Atypical Arm repeat

    RefSeqs of Annotated Genomes: Homo sapiens 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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      138187248..138298389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006100.2XP_016861589.1  armadillo repeat-containing protein 8 isoform X7

    2. XM_006713566.4XP_006713629.1  armadillo repeat-containing protein 8 isoform X3

      See identical proteins and their annotated locations for XP_006713629.1

      UniProtKB/Swiss-Prot
      Q8IUR7
      Conserved Domains (4) summary
      COG5369
      Location:332565
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:511541
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:1548
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:7170
      Arm_3; Atypical Arm repeat
    3. XM_017006097.1XP_016861586.1  armadillo repeat-containing protein 8 isoform X6

    4. XM_011512632.1XP_011510934.1  armadillo repeat-containing protein 8 isoform X3

      See identical proteins and their annotated locations for XP_011510934.1

      UniProtKB/Swiss-Prot
      Q8IUR7
      Related
      ENSP00000417304.1, ENST00000491704.5
      Conserved Domains (4) summary
      COG5369
      Location:332565
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:511541
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:1548
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:7170
      Arm_3; Atypical Arm repeat
    5. XM_024453441.1XP_024309209.1  armadillo repeat-containing protein 8 isoform X4

      Conserved Domains (4) summary
      COG5369
      Location:329562
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:508538
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:8167
      Arm_3; Atypical Arm repeat
    6. XM_017006098.2XP_016861587.1  armadillo repeat-containing protein 8 isoform X6

    7. XM_017006099.1XP_016861588.1  armadillo repeat-containing protein 8 isoform X6

    8. XM_017006095.2XP_016861584.1  armadillo repeat-containing protein 8 isoform X5

      Conserved Domains (4) summary
      COG5369
      Location:293526
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:472502
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:14400
      Arm_3; Atypical Arm repeat
    9. XM_006713565.2XP_006713628.1  armadillo repeat-containing protein 8 isoform X2

      See identical proteins and their annotated locations for XP_006713628.1

      UniProtKB/Swiss-Prot
      Q8IUR7
      Conserved Domains (4) summary
      COG5369
      Location:360593
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:539569
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:35198
      Arm_3; Atypical Arm repeat
    10. XM_024453442.1XP_024309210.1  armadillo repeat-containing protein 8 isoform X5

      Conserved Domains (4) summary
      COG5369
      Location:293526
      COG5369; Uncharacterized conserved protein [Function unknown]
      sd00044
      Location:472502
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:4376
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:14400
      Arm_3; Atypical Arm repeat

    RNA

    1. XR_001740086.1 RNA Sequence

    2. XR_002959505.1 RNA Sequence

    3. XR_002959506.1 RNA Sequence

    4. XR_001740087.2 RNA Sequence

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