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ARMC9 armadillo repeat containing 9 [ Homo sapiens (human) ]

Gene ID: 80210, updated on 11-Jun-2021

Summary

Official Symbol
ARMC9provided by HGNC
Official Full Name
armadillo repeat containing 9provided by HGNC
Primary source
HGNC:HGNC:20730
See related
Ensembl:ENSG00000135931 MIM:617612
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
ARM; NS21; JBTS30; KU-MEL-1
Expression
Broad expression in endometrium (RPKM 2.3), ovary (RPKM 1.9) and 22 other tissues See more
Orthologs
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Genomic context

See ARMC9 in Genome Data Viewer
Location:
2q37.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (231198628..231394991)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232063345..232241559)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, non-ATPase 1 Neighboring gene 5-hydroxytryptamine receptor 2B Neighboring gene RNA, U1 small nuclear 93, pseudogene Neighboring gene ribosomal protein S28 pseudogene 4 Neighboring gene microRNA 4777 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 Neighboring gene zinc finger and BTB domain containing 8 opposite strand pseudogene 2

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?

Phenotypes

Associated conditions

Description Tests
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
GeneReviews: Not available
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
GeneReviews: Not available
Joubert syndrome 30
MedGen: C4539937 OMIM: 617622 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12584

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary tip IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary tip ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 

General protein information

Preferred Names
lisH domain-containing protein ARMC9
Names
armadillo repeat-containing protein 9
armadillo/beta-catenin-like repeats
melanoma/melanocyte specific protein KU-MEL-1
melanoma/melanocyte-specific tumor antigen KU-MEL-1

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_001271466.4NP_001258395.2  lisH domain-containing protein ARMC9 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738, KF510794
    Consensus CDS
    CCDS74666.1
    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    PHA03309
    Location:657818
    PHA03309; transcriptional regulator ICP4; Provisional
  2. NM_001291656.2NP_001278585.2  lisH domain-containing protein ARMC9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Consensus CDS
    CCDS2484.1
    Related
    ENSP00000508405.1, ENST00000684432.1
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  3. NM_001352754.2NP_001339683.2  lisH domain-containing protein ARMC9 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738, KF510794
    Consensus CDS
    CCDS74666.1
    Related
    ENSP00000484804.1, ENST00000611582.5
    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    PHA03309
    Location:657818
    PHA03309; transcriptional regulator ICP4; Provisional
  4. NM_001352755.2NP_001339684.2  lisH domain-containing protein ARMC9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Consensus CDS
    CCDS2484.1
    Related
    ENSP00000507543.1, ENST00000684718.1
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  5. NM_001352756.2NP_001339685.2  lisH domain-containing protein ARMC9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Consensus CDS
    CCDS2484.1
    Related
    ENSP00000507743.1, ENST00000683575.1
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  6. NM_001352757.2NP_001339686.2  lisH domain-containing protein ARMC9 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Related
    ENSP00000507513.1, ENST00000683271.1
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  7. NM_001352758.2NP_001339687.2  lisH domain-containing protein ARMC9 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Related
    ENSP00000507152.1, ENST00000682002.1
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  8. NM_001352759.2NP_001339688.2  lisH domain-containing protein ARMC9 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Related
    ENSP00000392086.2, ENST00000436339.6
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
  9. NM_025139.6NP_079415.4  lisH domain-containing protein ARMC9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Consensus CDS
    CCDS2484.1
    Related
    ENSP00000258417.5, ENST00000349938.8
    Conserved Domains (1) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif

RNA

  1. NR_148040.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009407, AC018738
    Related
    ENST00000684565.1

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    231198628..231394991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511910.1XP_011510212.1  lisH domain-containing protein ARMC9 isoform X8

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  2. XM_017005022.1XP_016860511.1  lisH domain-containing protein ARMC9 isoform X7

  3. XM_011511912.1XP_011510214.1  lisH domain-containing protein ARMC9 isoform X10

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  4. XM_017005021.1XP_016860510.1  lisH domain-containing protein ARMC9 isoform X6

  5. XM_017005025.1XP_016860514.1  lisH domain-containing protein ARMC9 isoform X11

  6. XM_017005024.1XP_016860513.1  lisH domain-containing protein ARMC9 isoform X9

  7. XM_011511909.2XP_011510211.1  lisH domain-containing protein ARMC9 isoform X5

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  8. XM_011511908.2XP_011510210.1  lisH domain-containing protein ARMC9 isoform X4

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  9. XM_011511913.2XP_011510215.1  lisH domain-containing protein ARMC9 isoform X12

  10. XM_011511905.1XP_011510207.1  lisH domain-containing protein ARMC9 isoform X1

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  11. XM_011511906.1XP_011510208.1  lisH domain-containing protein ARMC9 isoform X2

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:451572
    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, ...
  12. XM_011511907.1XP_011510209.1  lisH domain-containing protein ARMC9 isoform X3

    Conserved Domains (2) summary
    smart00667
    Location:738
    LisH; Lissencephaly type-1-like homology motif
    cd00020
    Location:418539
    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, ...
  13. XM_011511914.2XP_011510216.1  lisH domain-containing protein ARMC9 isoform X13

  14. XM_011511916.2XP_011510218.1  lisH domain-containing protein ARMC9 isoform X15

  15. XM_011511915.2XP_011510217.1  lisH domain-containing protein ARMC9 isoform X14

    Related
    ENSP00000507407.1, ENST00000683063.1
  16. XM_011511919.2XP_011510221.1  lisH domain-containing protein ARMC9 isoform X16

    Conserved Domains (1) summary
    cd00020
    Location:93214
    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, ...

RNA

  1. XR_923031.1 RNA Sequence

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