Seroatlas · Human Serome Atlas

SEC61A1

Protein transport protein Sec61 subunit alpha isoform 1

Also known as: S61A1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P61619
Gene: SEC61A1
Ensembl: ENSG00000058262
Chromosome: 3
Canonical length: 476 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

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-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>P61619|SEC61A1
     1  MAIKFLEVIK PFCVILPEIQ KPERKIQFKE KVLWTAITLF IFLVCCQIPL FGIMSSDSAD
    61  PFYWMRVILA SNRGTLMELG ISPIVTSGLI MQLLAGAKII EVGDTPKDRA LFNGAQKLFG
   121  MIITIGQSIV YVMTGMYGDP SEMGAGICLL ITIQLFVAGL IVLLLDELLQ KGYGLGSGIS
   181  LFIATNICET IVWKAFSPTT VNTGRGMEFE GAIIALFHLL ATRTDKVRAL REAFYRQNLP
   241  NLMNLIATIF VFAVVIYFQG FRVDLPIKSA RYRGQYNTYP IKLFYTSNIP IILQSALVSN
   301  LYVISQMLSA RFSGNLLVSL LGTWSDTSSG GPARAYPVGG LCYYLSPPES FGSVLEDPVH
   361  AVVYIVFMLG SCAFFSKTWI EVSGSSAKDV AKQLKEQQMV MRGHRETSMV HELNRYIPTA
   421  AAFGGLCIGA LSVLADFLGA IGSGTGILLA VTIIYQYFEI FVKEQSEVGS MGALLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEC61A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 259 nTPM

Expression across tissuesHPA

Tissue

pancreas: 259 nTPM
salivary gland: 154 nTPM
cervix: 129 nTPM
liver: 127 nTPM
epididymis: 114 nTPM
stomach: 101 nTPM

Single-cell type

plasma cells: 250 nCPM
pancreatic acinar cells: 198 nCPM
extravillous trophoblasts: 185 nCPM
syncytiotrophoblasts: 178 nCPM
epididymal principal cells: 161 nCPM
hepatocytes: 143 nCPM

Immune cell

basophil: 125 nTPM
MAIT T-cell: 104 nTPM
total PBMC: 101 nTPM
plasmacytoid DC: 98 nTPM
gdT-cell: 77 nTPM
classical monocyte: 75 nTPM

Brain region

choroid plexus: 75 nTPM
thalamus: 62 nTPM
hypothalamus: 60 nTPM
medulla oblongata: 55 nTPM
midbrain: 54 nTPM
spinal cord: 49 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEC61A1.

Disease | AllUniProt

Conditions SEC61A1 is implicated in, by any mechanism.

Tubulointerstitial kidney disease, autosomal dominant 5 (ADTKD5) MIM:617056
Immunodeficiency, common variable, 15 (CVID15) MIM:620670
Neutropenia, severe congenital, 11, autosomal dominant (SCN11) MIM:620674

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 361 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hyperuricemic nephropathy, familial juvenile type 4
Immunodeficiency, common variable, 15
Familial prostate cancer
Decreased circulating immunoglobulin concentration
Neutropenia, severe congenital, 11, autosomal dominant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.3
gnomAD pLI: 0.99
gnomAD missense Z: 4.06
DepMap mean gene effect: -1.88
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SEC61A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SEC61A1 as an antibody target. Whether an autoantibody or antibody against SEC61A1 could matter depends on whether native SEC61A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEC61A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SEC61A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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