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

Gene ID: 80210, updated on 13-May-2022

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; AllianceGenome:HGNC:20730
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
Summary
Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Apr 2022]
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:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231198631..231376848)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231683119..231861312)
105.20220307 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 RNA, U1 small nuclear 93, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12701 Neighboring gene ribosomal protein S28 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 9410 Neighboring gene microRNA 4777 Neighboring gene Sharpr-MPRA regulatory region 14998 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

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
Joubert syndrome 30
MedGen: C4539937 OMIM: 617622 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
EBI GWAS Catalog
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
EBI GWAS Catalog

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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    231198631..231376848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    231683119..231861312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)