• Gene id: 29927

Gene Summary

• Gene Symbol: SEC61A1   Gene   UCSC   Ensembl
• Aliases: HNFJ4, HSEC61, SEC61, SEC61A
• Gene name: SEC61 translocon subunit alpha 1
• Alternate names: protein transport protein Sec61 subunit alpha isoform 1, SEC61 translocon alpha 1 subunit, Sec61 alpha 1 subunit, Sec61 alpha-1, protein transport protein SEC61 alpha subunit, protein transport protein Sec61 subunit alpha, sec61 homolog,
• Gene location: 3q21.3 (128052436: 128071682)     Exons: 12     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-b
• OMIM: 610134

Protein Summary

• Protein general information: P61619  
  • Name: Protein transport protein Sec61 subunit alpha isoform 1 (Sec61 alpha 1)
  • Length: 476  
  • Mass: 52265
  • Tissue specificity: Expressed in proximal and distal tubules in kidney (at protein level). {ECO
• Sequence:

  MAIKFLEVIKPFCVILPEIQKPERKIQFKEKVLWTAITLFIFLVCCQIPLFGIMSSDSADPFYWMRVILASNRGT
  LMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALFNGAQKLFGMIITIGQSIVYVMTGMYGDPSEMGAGICLL
  ITIQLFVAGLIVLLLDELLQKGYGLGSGISLFIATNICETIVWKAFSPTTVNTGRGMEFEGAIIALFHLLATRTD
  KVRALREAFYRQNLPNLMNLIATIFVFAVVIYFQGFRVDLPIKSARYRGQYNTYPIKLFYTSNIPIILQSALVSN
  LYVISQMLSARFSGNLLVSLLGTWSDTSSGGPARAYPVGGLCYYLSPPESFGSVLEDPVHAVVYIVFMLGSCAFF
  SKTWIEVSGSSAKDVAKQLKEQQMVMRGHRETSMVHELNRYIPTAAAFGGLCIGALSVLADFLGAIGSGTGILLA
  VTIIYQYFEIFVKEQSEVGSMGALLF

• Structural information:
  • Interpro: IPR002208  IPR030659  IPR023201  IPR019561  
  • Prosite: PS00755 PS00756
  • STRING: ENSP00000243253
• Other Databases: GeneCards:  SEC61A1  Malacards:  SEC61A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043022	ribosome binding	IBA	molecular function
GO:0031204	posttranslational protein targeting to membrane, translocation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005784	Sec61 translocon complex	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005048	signal sequence binding	IBA	molecular function
GO:0008320	protein transmembrane transporter activity	IBA	molecular function
GO:0006616	SRP-dependent cotranslational protein targeting to membrane, translocation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005262	calcium channel activity	IMP	molecular function
GO:0031204	posttranslational protein targeting to membrane, translocation	IMP	biological process
GO:0039019	pronephric nephron development	ISS	biological process
GO:0039019	pronephric nephron development	ISS	biological process
GO:0006613	cotranslational protein targeting to membrane	IMP	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0006614	SRP-dependent cotranslational protein targeting to membrane	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0006620	posttranslational protein targeting to endoplasmic reticulum membrane	IMP	biological process
GO:0005829	cytosol	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:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0034341	response to interferon-gamma	IEA	biological process
GO:0043022	ribosome binding	IEA	molecular function
GO:0039019	pronephric nephron development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0043022	ribosome binding	ISS	molecular function
GO:0045047	protein targeting to ER	ISS	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04145	Phagosome
hsa05110	Vibrio cholerae infection
hsa03060	Protein export

Diseases

Associated diseases	References
Autosomal dominant tubulointerstitial kidney disease	KEGG:H00541
Familial juvenile hyperuricemic nephropathy	KEGG:H02011
Autosomal dominant tubulointerstitial kidney disease	KEGG:H00541
Familial juvenile hyperuricemic nephropathy	KEGG:H02011
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881