• Gene id: 79798

Gene Summary

• Gene Symbol: ARMC5   Gene   UCSC   Ensembl
• Aliases: AIMAH2
• Gene name: armadillo repeat containing 5
• Alternate names: armadillo repeat-containing protein 5,
• Gene location: 16p11.2 (122680725: 122730839)     Exons: 17     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The en
• OMIM: 615549

Protein Summary

• Protein general information: Q96C12  
  • Name: Armadillo repeat containing protein 5
  • Length: 935  
  • Mass: 97682
• Sequence:

  MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIERFRARGGLRPLLALLR
  RAAAAGSAPSQAGPGSAPSSAASGASSPAPASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCCTEGACRTEVR
  RLGGILPLVTILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDSQCLQSVVRALRNLAD
  SPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLGGGLGPLVSLASHPKRAVREG
  TILILANLCAQGLIRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREAINRARLRDAGGLDLLM
  GLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQLCGEAGEEEEEGREAASWDFPEERTPERAQG
  GSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPASPAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPA
  LLLLSRFSQAPDPSGALVTGPALYGLLTYVTGAPGPPSPRALRILSRLTCNPACLEAFVRSYGAALLRAWLVLGV
  APDDWPAPRARPTLHSRHRELGERLLQNLTVQAESPFGVGALTHLLLSGSPEDRVACALTLPFICRKPSLWRRLL
  LEQGGLRLLLAALTRPAPHPLFLFFAADSLSCLQDLVSPTVSPAVPQAVPMDLDSPSPCLYEPLLGPAPVPAPDL
  HFLLDSGLQLPAQRAASATASPFFRALLSGSFAEAQMDLVPLRGLSPGAAWPVLHHLHGCRGCGAALGPVPPPGQ
  PLLGSEAEEALEAAGRFLLPGLEEELEEAVGRIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGL
  ALVGLVEAAGEEAGPLTEALLAVVMGIELGARVPA

• Structural information:
  • Protein Domains: (748..81-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011989  IPR016024  IPR000225  IPR000210  
  • Prosite: PS50176 PS50097
  • STRING: ENSP00000386125
• Other Databases: GeneCards:  ARMC5  Malacards:  ARMC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IMP	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Cushing syndrome	KEGG:H01431
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq