• Gene id: 27248

Gene Summary

• Gene Symbol: ERLEC1   Gene   UCSC   Ensembl
• Aliases: C2orf30, CIM, CL24936, CL25084, HEL117, XTP3-B, XTP3TPB
• Gene name: endoplasmic reticulum lectin 1
• Alternate names: endoplasmic reticulum lectin 1, ER lectin, XTP3-transactivated gene B protein, XTP3-transactivated protein B, cancer invasion and metastasis-related, epididymis luminal protein 117, erlectin 1,
• Gene location: 2p16.2 (53786930: 53834523)     Exons: 16     NC_000002.12
• Gene summary(Entrez): This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also
• OMIM: 611229

Protein Summary

• Protein general information: Q96DZ1  
  • Name: Endoplasmic reticulum lectin 1 (ER lectin) (Erlectin) (XTP3 transactivated gene B protein)
  • Length: 483  
  • Mass: 54858
• Sequence:

  MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKE
  KYKCILPLVTSGDEEEEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYY
  LGNMLAKNLLFEKEREAEEKEKSNEIPTKNIEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILS
  VAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFKPLTLRQLEQQEEILRVPFRRNKEEDLQSTK
  EERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGKHVHQYHEDKDSGKTS
  VVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRMVSHFYGNGDICDITDKPRQVTVKLKCKESDSPHAVTVYML
  EPHSCQYILGVESPVICKILDTADENGLLSLPN

• Structural information:
  • Protein Domains: (111..18-)
    (/note="PRKCSH-1)
    (342..41-)
    (/note="PRKCSH-2")
  • Interpro: IPR009011  IPR012913  
  • STRING: ENSP00000185150
• Other Databases: GeneCards:  ERLEC1  Malacards:  ERLEC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051082	unfolded protein binding	IDA	molecular function
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0036503	ERAD pathway	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	IBA	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IBA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005515	protein binding	IDA	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

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