• Gene id: 10616

Gene Summary

• Gene Symbol: RBCK1   Gene   UCSC   Ensembl
• Aliases: C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
• Gene name: RANBP2-type and C3HC4-type zinc finger containing 1
• Alternate names: ranBP-type and C3HC4-type zinc finger-containing protein 1, HBV-associated factor 4, RBCC protein interacting with PKC1, RING finger protein 54, RING-type E3 ubiquitin transferase HOIL-1, heme-oxidized IRP2 ubiquitin ligase 1, hepatitis B virus X-associated pro,
• Gene location: 20p13 (408049: 432138)     Exons: 15     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
• OMIM: 610924

Protein Summary

• Protein general information: Q9BYM8  
  • Name: RanBP type and C3HC4 type zinc finger containing protein 1 (EC 2.3.2.31) (HBV associated factor 4) (Heme oxidized IRP2 ubiquitin ligase 1) (HOIL 1) (Hepatitis B virus X associated protein 4) (RING finger protein 54) (RING type E3 ubiquitin transferase HOI
  • Length: 510  
  • Mass: 57572
• Sequence:

  MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDIRLWVSVEDAQMHTVTIWLTV
  RPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTSLNPQELQRERQLR
  MLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQ
  VPASYQPDEEERARLAGEEEALRQYQQRKQQQQEGNYLQHVQLDQRSLVLNTEPAECPVCYSVLAPGEAVVLREC
  LHTFCRECLQGTIRNSQEAEVSCPFIDNTYSCSGKLLEREIKALLTPEDYQRFLDLGISIAENRSAFSYHCKTPD
  CKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRCPQC
  QIVVQKKDGCDWIRCTVCHTEICWVTKGPRWGPGGPGDTSGGCRCRVNGIPCHPSCQNCH

• Structural information:
  • Protein Domains: (55..11-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214"-)
  • Interpro: IPR002867  IPR026261  IPR000626  IPR029071  IPR027370   IPR001876  IPR036443  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51873 PS50053 PS01358 PS50199 PS00518 PS50089
  • PDB: 2CRC 2LGY 4DBG
  • PDBsum: 2CRC 2LGY 4DBG
  • DIP: 47737
  • STRING: ENSP00000348632
• Other Databases: GeneCards:  RBCK1  Malacards:  RBCK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0097039	protein linear polyubiquitination	IBA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0071797	LUBAC complex	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0050852	T cell receptor signaling pathway	IDA	biological process
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
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:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0060546	negative regulation of necroptotic process	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis

Diseases

Associated diseases	References
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	KEGG:H01744
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	KEGG:H01744
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq