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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEC61A1
SEC61 translocon subunit alpha 1
Chromosome 3 Β· 3q21.3
NCBI Gene: 29927Ensembl: ENSG00000058262.11HGNC: HGNC:18276UniProt: B3KME8
211PubMed Papers
23Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SRP-dependent cotranslational protein targeting to membranepost-translational protein targeting to endoplasmic reticulum membraneendoplasmic reticulum organizationcotranslational protein targeting to membranehyperuricemic nephropathy, familial juvenile type 4Hyperuricemia - anemia - renal failureSEC61A1 deficiencyimmunodeficiency, common variable, 15
✦AI Summary

SEC61A1 encodes the alpha-1 subunit of the SEC61 translocon complex, a fundamental component of the endoplasmic reticulum (ER) protein translocation machinery. As the primary channel-forming component, SEC61A1 mediates cotranslational transport of signal peptide-containing nascent polypeptides across the ER membrane and cooperates with auxiliary proteins SEC62, SEC63, and HSPA5/BiP for post-translational translocation 1234. The protein functions as both a ribosome receptor and gated pore, essential for proper protein synthesis targeting 23. SEC61A1 also facilitates ER membrane insertion of transmembrane proteins and maintains calcium homeostasis through passive efflux regulation 35. Pathologically, mutations in SEC61A1 cause autosomal dominant tubulointerstitial kidney disease (ADTKD-SEC61A1), characterized by progressive tubular damage, interstitial fibrosis, and early-onset chr3 kidney disease, often accompanied by extrarenal manifestations including hematological abnormalities, growth retardation, and hyperuricemia 67. A SEC61A1 variant has also been associated with polycystic liver disease through impaired polycystin-2 biosynthesis 8. Beyond genetic kidney disease, dysregulated SEC61A1 expression has been implicated in multiple myeloma and nasopharyngeal carcinoma progression through regulatory RNA pathways 910.

Sources cited
1
SEC61 translocon mediates transport of signal peptide-containing precursor polypeptides across the ER
PMID: 12475939
2
SEC61A1 forms a ribosome receptor and gated pore required for cotranslational translocation and post-translational transport
PMID: 22375059
3
SEC61A1 participates in cotranslational translocation and controls calcium efflux from the ER lumen
PMID: 28782633
4
SEC61A1 cooperates with SEC62, SEC63, and HSPA5/BiP for post-translational protein transport
PMID: 29719251
5
SEC61 channel mediates membrane insertion of initial transmembrane segments
PMID: 32820719
6
SEC61A1 mutations cause autosomal dominant tubulointerstitial kidney disease (ADTKD-SEC61A1)
PMID: 31488840
7
SEC61A1-related ADTKD presents with early-onset chronic kidney disease, hyperuricemia, and extrarenal features including hematological abnormalities and growth retardation
PMID: 41850665
8
SEC61A1 variant associated with polycystic liver disease through impaired polycystin-2 biosynthesis and proteasomal degradation
PMID: 36478640
9
Circular SEC61A1 RNA promotes multiple myeloma progression via miR-660-5p/CDK6 axis
PMID: 35030455
10
MAGI2-AS3/miR-218-5p/SEC61A1 axis regulates nasopharyngeal carcinoma progression and cisplatin resistance
PMID: 32450008
Disease Associationsβ“˜23
hyperuricemic nephropathy, familial juvenile type 4Open Targets
0.72Strong
Hyperuricemia - anemia - renal failureOpen Targets
0.51Moderate
SEC61A1 deficiencyOpen Targets
0.51Moderate
immunodeficiency, common variable, 15Open Targets
0.44Moderate
severe congenital neutropeniaOpen Targets
0.42Moderate
autosomal dominant medullary cystic kidney disease with or without hyperuricemiaOpen Targets
0.39Weak
neutropenia, severe congenital, 11, autosomal dominantOpen Targets
0.38Weak
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.37Weak
osteitis deformansOpen Targets
0.32Weak
autosomal dominant polycystic liver diseaseOpen Targets
0.29Weak
Isolated polycystic liver diseaseOpen Targets
0.29Weak
Decreased circulating immunoglobulin concentrationOpen Targets
0.27Weak
hypertensionOpen Targets
0.25Weak
Hodgkins lymphomaOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
chronic kidney diseaseOpen Targets
0.19Weak
cystic kidney diseaseOpen Targets
0.18Weak
interstitial nephritisOpen Targets
0.18Weak
Charcot-Marie-Tooth disease axonal type 2TOpen Targets
0.12Weak
prostate carcinomaOpen Targets
0.11Weak
Immunodeficiency, common variable, 15UniProt
Neutropenia, severe congenital, 11, autosomal dominantUniProt
Tubulointerstitial kidney disease, autosomal dominant 5UniProt
Pathogenic Variants8
NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe)Likely pathogenic
Hyperuricemic nephropathy, familial juvenile type 4
β˜…β˜…β˜†β˜†2022β†’ Residue 89
NM_013336.4(SEC61A1):c.1372T>G (p.Phe458Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 458
NM_013336.4(SEC61A1):c.186C>A (p.Phe62Leu)Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4
β˜…β˜†β˜†β˜†2022β†’ Residue 62
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)Likely pathogenic
Decreased circulating immunoglobulin concentration|Immunodeficiency, common variable, 15
β˜…β˜†β˜†β˜†2018β†’ Residue 85
NM_013336.4(SEC61A1):c.200T>G (p.Val67Gly)Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4
β˜†β˜†β˜†β˜†2025β†’ Residue 67
NM_013336.4(SEC61A1):c.553A>G (p.Thr185Ala)Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4|Familial prostate cancer
β˜†β˜†β˜†β˜†2025β†’ Residue 185
NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)Pathogenic
Immunodeficiency, common variable, 15
β˜†β˜†β˜†β˜†2024β†’ Residue 381
NM_013336.4(SEC61A1):c.275A>G (p.Gln92Arg)Pathogenic
Neutropenia, severe congenital, 11, autosomal dominant
β˜†β˜†β˜†β˜†2024β†’ Residue 92
View on ClinVar β†—
Related Genes
GET3Protein interaction100%TMEM258Protein interaction100%DAD1Protein interaction100%DDOSTProtein interaction100%RPN1Protein interaction100%RPN2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
58%
Bone Marrow
40%
Ovary
35%
Heart
34%
Brain
31%
Gene Interaction Network
Click a node to explore
SEC61A1GET3TMEM258DAD1DDOSTRPN1RPN2
PROTEIN STRUCTURE
Preparing viewer…
PDB8DNZ Β· 2.57 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.16–0.40]
RankingsWhere SEC61A1 stands among ~20K protein-coding genes
  • #1,982of 20,598
    Most Researched211 Β· top 10%
  • #3,032of 5,498
    Most Pathogenic Variants8
  • #2,043of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedSEC61A1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Autosomal dominant tubulointerstitial kidney disease.
PMID: 31488840
Nat Rev Dis Primers Β· 2019
1.00
2
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort.
PMID: 39976632
Clin Exp Nephrol Β· 2025
0.90
3
De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.
PMID: 41850665
Gene Β· 2026
0.80
4
Circ_SEC61A1 contributes to the progression of multiple myeloma cells via regulating miR-660-5p/CDK6 axis.
PMID: 35030455
Leuk Res Β· 2022
0.70
5
Phenylbutyrate rescues the transport defect of the Sec61Ξ± mutations V67G and T185A for renin.
PMID: 35064074
Life Sci Alliance Β· 2022
0.64