• Gene id: 57531

Gene Summary

• Gene Symbol: HACE1   Gene   UCSC   Ensembl
• Aliases: SPPRS
• Gene name: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
• Alternate names: E3 ubiquitin-protein ligase HACE1, HECT-type E3 ubiquitin transferase HACE1,
• Gene location: 6q16.3 (104859918: 104728093)     Exons: 27     NC_000006.12
• Gene summary(Entrez): This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor
• OMIM: 610876

Protein Summary

• Protein general information: Q8IYU2  
  • Name: E3 ubiquitin protein ligase HACE1 (EC 2.3.2.26) (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) (HECT type E3 ubiquitin transferase HACE1)
  • Length: 909  
  • Mass: 102342
  • Tissue specificity: Expressed in multiple tissues including heart, brain and kidney. {ECO
• Sequence:

  MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYAFGRVKRSLLHIAANC
  GSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEYSADVNICNNEGLTAIHWLAVNGRTELLHDL
  VQHVSDVDVEDAMGQTALHVACQNGHKTTVQCLLDSGADINRPNVSGATPLYFACSHGQRDTAQILLLRGAKYLP
  DKNGVTPLDLCVQGGYGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVAT
  TNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPLELLWHSLDEWLVLIA
  TELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLSTGTRESKPDALAGRQEASADCQDVISMTAN
  RLSAVIQAFYMCCSCQMPPGMTSPRFIEFVCKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFK
  DRCEWFYEHLHSGQPDSDMVHRPVNENDILLVHRDSIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREW
  FDILSNEIVNPDYALFTQSADGTTFQPNSNSYVNPDHLNYFRFAGQILGLALNHRQLVNIYFTRSFYKHILGIPV
  NYQDVASIDPEYAKNLQWILDNDISDLGLELTFSVETDVFGAMEEVPLKPGGGSILVTQNNKAEYVQLVTELRMT
  RAIQPQINAFLQGFHMFIPPSLIQLFDEYELELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQ
  EERVLLLQFVTGSSRVPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALH
  CGSYGYTMA

• Structural information:
  • Protein Domains: (574..90-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR000569  IPR035983  
  • Prosite: PS50297 PS50088 PS50237
  • CDD: cd00078
  • STRING: ENSP00000262903
• Other Databases: GeneCards:  HACE1  Malacards:  HACE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0016567	protein ubiquitination	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0000139	Golgi membrane	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0045732	positive regulation of protein catabolic process	IBA	biological process
GO:0061025	membrane fusion	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0007030	Golgi organization	IDA	biological process
GO:0061025	membrane fusion	IMP	biological process
GO:0030334	regulation of cell migration	IMP	biological process
GO:0016601	Rac protein signal transduction	TAS	biological process
GO:0048365	Rac GTPase binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Spastic paraplegia-psychomotor retardation-seizures syndrome	KEGG:H02293
Spastic paraplegia-psychomotor retardation-seizures syndrome	KEGG:H02293
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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