• Gene id: 7844

Gene Summary

• Gene Symbol: RNF103   Gene   UCSC   Ensembl
• Aliases: HKF-1, KF-1, KF1, ZFP-103, ZFP103
• Gene name: ring finger protein 103
• Alternate names: E3 ubiquitin-protein ligase RNF103, RING-type E3 ubiquitin transferase RNF103, zinc finger protein 103 homolog, zinc finger protein expressed in cerebellum,
• Gene location: 2p11.2 (86623876: 86603392)     Exons: 5     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counter
• OMIM: 602507

Protein Summary

• Protein general information: O00237  
  • Name: E3 ubiquitin protein ligase RNF103 (EC 2.3.2.27) (KF 1) (hKF 1) (RING finger protein 103) (RING type E3 ubiquitin transferase RNF103) (Zinc finger protein 103 homolog) (Zfp 103)
  • Length: 685  
  • Mass: 79405
  • Tissue specificity: Highly expressed in the normal cerebellum but not in the cerebral cortex. {ECO
• Sequence:

  MWLKLFFLLLYFLVLFVLARFFEAIVWYETGIFATQLVDPVALSFKKLKTILECRGLGYSGLPEKKDVRELVEKS
  GDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQVIANDRSPLVGKIHWEKMVKKVSRFGIR
  TGTFNCSSDPRYCRRRGWVRSTLIMSVPQTSTSKGKVMLKEYSGRKIEVEHIFKWITAHAASRIKTIYNAEHLKE
  EWNKSDQYWLKIYLFANLDQPPAFFSALSIKFTGRVEFIFVNVENWDNKSYMTDIGIYNMPSYILRTPEGIYRYG
  NHTGEFISLQAMDSFLRSLQPEVNDLFVLSLVLVNLMAWMDLFITQGATIKRFVVLISTLGTYNSLLIISWLPVL
  GFLQLPYLDSFYEYSLKLLRYSNTTTLASWVRADWMFYSSHPALFLSTYLGHGLLIDYFEKKRRRNNNNDEVNAN
  NLEWLSSLWDWYTSYLFHPIASFQNFPVESDWDEDPDLFLERLAFPDLWLHPLIPTDYIKNLPMWRFKCLGVQSE
  EEMSEGSQDTENDSESENTDTLSSEKEVFEDKQSVLHNSPGTASHCDAEACSCANKYCQTSPCERKGRSYGSYNT
  NEDMEPDWLTWPADMLHCTECVVCLENFENGCLLMGLPCGHVFHQNCIVMWLAGGRHCCPVCRWPSYKKKQPYAQ
  HQPLSNDVPS

• Structural information:
  • Interpro: IPR042494  IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000237455
• Other Databases: GeneCards:  RNF103  Malacards:  RNF103

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016567	protein ubiquitination	IBA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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