• Gene id: 64795

Gene Summary

• Gene Symbol: RMND5A   Gene   UCSC   Ensembl
• Aliases: CTLH, GID2, GID2A, RMD5, p44CTLH
• Gene name: required for meiotic nuclear division 5 homolog A
• Alternate names: E3 ubiquitin-protein transferase RMND5A, 44-kD protein coding for CTLH motif, C-terminal to LisH motif, 44 kDa, GID complex subunit 2 homolog A, protein RMD5 homolog A,
• Gene location: 2p11.2 (86720290: 86778040)     Exons: 9     NC_000002.12

Protein Summary

• Protein general information: Q9H871  
  • Name: E3 ubiquitin protein transferase RMND5A (EC 2.3.2.27) (P44CTLH) (Protein RMD5 homolog A)
  • Length: 391  
  • Mass: 43993
• Sequence:

  MDQCVTVERELEKVLHKFSGYGQLCERGLEELIDYTGGLKHEILQSHGQDAELSGTLSLVLTQCCKRIKDTVQKL
  ASDHKDIHSSVSRVGKAIDKNFDSDISSVGIDGCWQADSQRLLNEVMVEHFFRQGMLDVAEELCQESGLSVDPSQ
  KEPFVELNRILEALKVRVLRPALEWAVSNREMLIAQNSSLEFKLHRLYFISLLMGGTTNQREALQYAKNFQPFAL
  NHQKDIQVLMGSLVYLRQGIENSPYVHLLDANQWADICDIFTRDACALLGLSVESPLSVSFSAGCVALPALINIK
  AVIEQRQCTGVWNQKDELPIEVDLGKKCWYHSIFACPILRQQTTDNNPPMKLVCGHIISRDALNKMFNGSKLKCP
  YCPMEQSPGDAKQIFF

• Structural information:
  • Protein Domains: (114..14-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126-)
    (153..21-)
    (/note="CTLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00058"-)
  • Interpro: IPR013144  IPR024964  IPR006595  IPR006594  IPR037680   IPR027370  
  • Prosite: PS50897 PS50896 PS51867
  • CDD: cd16794
  • STRING: ENSP00000283632
• Other Databases: GeneCards:  RMND5A  Malacards:  RMND5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0034657	GID complex	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000151	ubiquitin ligase complex	ISS	cellular component
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000209	protein polyubiquitination	ISS	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	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:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray