• Gene id: 10613

Gene Summary

• Gene Symbol: ERLIN1   Gene   UCSC   Ensembl
• Aliases: C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
• Gene name: ER lipid raft associated 1
• Alternate names: erlin-1, Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9, SPFH domain family, member 1, SPFH domain-containing protein 1, endoplasmic reticulum lipid raft-associated protein 1, stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1,
• Gene location: 10q24.31 (15601568: 15560698)     Exons: 17     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which pro
• OMIM: 611604

Protein Summary

• Protein general information: O75477  
  • Name: Erlin 1 (Endoplasmic reticulum lipid raft associated protein 1) (Protein KE04) (Stomatin prohibitin flotillin HflC/K domain containing protein 1) (SPFH domain containing protein 1)
  • Length: 348  
  • Mass: 39171
  • Tissue specificity: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine. {ECO
• Sequence:

  MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITTFRSVQTTLQTDEVKN
  VPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFNKIHHELNQFCSAHTLQEVYIELFDQIDENL
  KQALQKDLNLMAPGLTIQAVRVTKPKIPEAIRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKAVIEAEKIAQ
  VAKIRFQQKVMEKETEKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFG
  SNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG

• Structural information:
  • Interpro: IPR001107  IPR036013  IPR033294  
  • CDD: cd03406
  • STRING: ENSP00000410964
• Other Databases: GeneCards:  ERLIN1  Malacards:  ERLIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032933	SREBP signaling pathway	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0015485	cholesterol binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0015485	cholesterol binding	IDA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IMP	biological process
GO:0032933	SREBP signaling pathway	IMP	biological process
GO:0045541	negative regulation of cholesterol biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R