ARMC3 (armadillo repeat containing 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
219681
Gene name Gene Name - the full gene name approved by the HGNC.
Armadillo repeat containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARMC3
Synonyms (NCBI Gene) Gene synonyms aliases
CT81, KU-CT-1, VAC8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mob
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0006914 Process Autophagy IEA
GO:0007283 Process Spermatogenesis IEA
GO:0007286 Process Spermatid development ISS
GO:0030154 Process Cell differentiation IEA
GO:0030317 Process Flagellated sperm motility ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611226 30964 ENSG00000165309
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5W041
Protein name Armadillo repeat-containing protein 3 (Beta-catenin-like protein) (Cancer/testis antigen 81) (CT81) (KU-CT-1)
Protein function Essential for male fertility and sperm motility (By similarity). During spermatogenesis, promotes the autophagic degradation of excessive ribosomes, providing energy resources for mitochondria and thus ensuring sperm flagellar motility (PubMed:3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 142 → 179 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 351 → 385 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 387 → 427 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 469 → 504 Armadillo/beta-catenin-like repeat Repeat
PF14381 EDR1 718 → 859 Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in skeletal muscle, brain, lung, kidney, prostate and testis. {ECO:0000269|PubMed:16915934}.; TISSUE SPECIFICITY: [Isoform 3]: Mainly expressed in skeletal muscle, liver, spleen and thymus. {ECO:0000269|PubMed:16
Sequence 
MGKKIKKEVEPPPKDVFDPLMIESKKAATVVLMLNSPEEEILAKACEAIYKFALKGEENK
TTLLELGAVEPLTKLLTHEDKIVRRNATMIFGILASNNDVKKLLRELDVMNSVIAQLAPE
EEVVIHEFASLCLANMSAEYTSKVQIFEHGGLEPLIRLLSSPDPDVKKNSMECIYNLVQD
FQCRAKLQELNAIPPILDLLKSEYPVIQLLALKTLGVIANDKESRTMLRDNQGLDHLIKI
LETKELNDLHIEALAVIANCLEDMDTMVQIQQTGGLKKLLSFAENSTIPDIQKNAAKAIT
KAAYDPENRKLFHEQEVEKCLVALLGSENDGTKIAASQAISAMCENSGSKDFFNNQGIPQ
LIQLLKSDNEEVREAAALALANLTTCNPANANAAAEADGIDPLINLLSSKRDGAIANAAT
VLTNMAMQEPLRLNIQNHDIMHAIISPLRSANTVVQSKAALAVTATACDVEARTELRNSG
GLEPLVELLRSKNDEVRKHASWAVMVCAGDELTANELCRLGALDILEEVNVSGTRKNKFS
EAAYNKLLNNNLSLKYSQTGYLSSSNIINDGFYDYGRINPGTKLLPLKELCLQEPSDLRA
VLLINSKSYVSPPSSMEDKSDVGYGRSISSSSSLRRSSKEKNKKNSYHFSAGFGSPIEDK
SEPASGRNTVLSKSATKEKGWRKSKGKKEEEKVKEEEEVMVVPKFVGEGSSDKEWCPPSD
PDFSMYVYEVTKSILPITNIKEQIEDLAKYVAEKMGGKIPKEKLPDFSWELHISELKFQL
KSNVIPIGHVKKGIFYHRALLFKALADRIGIGCSLVRGEYGRAWNEVMLQNDSRKGVIGG
LPAPEMYVIDLMFHPGGLMKLRSREADLYRFI
Sequence length 872
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 36553564
Stuttering Associate 36553564