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Protein

Protein transport protein Sec61 subunit alpha isoform 1

Gene

SEC61A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER (PubMed:28782633). Required for assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or through adapter proteins. Plays a role in pronephric kidney tubule development (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • cotranslational protein targeting to membrane Source: UniProtKB
  • endoplasmic reticulum organization Source: MGI
  • posttranslational protein targeting to endoplasmic reticulum membrane Source: MGI
  • pronephric nephron development Source: UniProtKB
  • protein targeting to ER Source: UniProtKB
  • response to interferon-gamma Source: Ensembl
  • SRP-dependent cotranslational protein targeting to membrane Source: MGI

Keywordsi

Biological processProtein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1236974 ER-Phagosome pathway
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-381038 XBP1(S) activates chaperone genes

Protein family/group databases

TCDBi3.A.5.9.1 the general secretory pathway (sec) family

Names & Taxonomyi

Protein namesi
Recommended name:
Protein transport protein Sec61 subunit alpha isoform 1
Short name:
Sec61 alpha-1
Gene namesi
Name:SEC61A1
Synonyms:SEC61A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000058262.9
HGNCiHGNC:18276 SEC61A1
MIMi609213 gene
neXtProtiNX_P61619

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 33CytoplasmicSequence analysisAdd BLAST33
Transmembranei34 – 53HelicalSequence analysisAdd BLAST20
Topological domaini54 – 76LumenalSequence analysisAdd BLAST23
Transmembranei77 – 96HelicalSequence analysisAdd BLAST20
Topological domaini97 – 117CytoplasmicSequence analysisAdd BLAST21
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 144LumenalSequence analysis6
Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Topological domaini166 – 172CytoplasmicSequence analysis7
Transmembranei173 – 193HelicalSequence analysisAdd BLAST21
Topological domaini194 – 240LumenalSequence analysisAdd BLAST47
Transmembranei241 – 261HelicalSequence analysisAdd BLAST21
Topological domaini262 – 288CytoplasmicSequence analysisAdd BLAST27
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Topological domaini310 – 354LumenalSequence analysisAdd BLAST45
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Topological domaini376 – 420CytoplasmicSequence analysisAdd BLAST45
Transmembranei421 – 441HelicalSequence analysisAdd BLAST21
Topological domaini442 – 445LumenalSequence analysis4
Transmembranei446 – 462HelicalSequence analysisAdd BLAST17
Topological domaini463 – 476CytoplasmicSequence analysisAdd BLAST14

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Familial juvenile hyperuricemic nephropathy 4 (HNFJ4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant renal disorder characterized by progressive chronic kidney disease, anemia, elevated serum creatinine levels, and hyperuricemia.
See also OMIM:617056
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07705967V → G in HNFJ4; decreases in protein stability; partly confers novel Golgi subcellular location. 1 PublicationCorresponds to variant dbSNP:rs752745051EnsemblClinVar.1
Natural variantiVAR_077060185T → A in HNFJ4; decreases in protein stability; partly confers novel Golgi subcellular location. 1 PublicationCorresponds to variant dbSNP:rs879255648EnsemblClinVar.1
Defects in SEC61A1 may be a cause of autosomal dominant hypogammaglobulinemia, resulting in severe recurrent infections, mainly of the respiratory tract. Disease onset is mostly in the first year of life. Affected subjects manifest reduced antibodies production by plasma cells, in the presence of normal subpopulations of B and T cells in the peripheral blood. Patients respond well to immunoglobulin replacement therapy.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi29927
MalaCardsiSEC61A1
MIMi617056 phenotype
OpenTargetsiENSG00000058262
PharmGKBiPA134901772

Polymorphism and mutation databases

BioMutaiSEC61A1
DMDMi48429109

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001317911 – 476Protein transport protein Sec61 subunit alpha isoform 1Add BLAST476

Proteomic databases

EPDiP61619
MaxQBiP61619
PaxDbiP61619
PeptideAtlasiP61619
PRIDEiP61619

PTM databases

iPTMnetiP61619
PhosphoSitePlusiP61619
SwissPalmiP61619

Expressioni

Gene expression databases

BgeeiENSG00000058262
ExpressionAtlasiP61619 baseline and differential
GenevisibleiP61619 HS

Organism-specific databases

HPAiCAB022076

Interactioni

Subunit structurei

Heterotrimeric complex composed of SEC61-alpha, SEC61-beta and SEC61-gamma.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi118968, 70 interactors
IntActiP61619, 39 interactors
MINTiP61619
STRINGi9606.ENSP00000243253

Structurei

3D structure databases

ProteinModelPortaliP61619
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SecY/SEC61-alpha family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1373 Eukaryota
COG0201 LUCA
GeneTreeiENSGT00390000003721
HOVERGENiHBG055271
InParanoidiP61619
KOiK10956
PhylomeDBiP61619
TreeFamiTF300348

Family and domain databases

Gene3Di1.10.3370.10, 1 hit
InterProiView protein in InterPro
IPR002208 SecY/SEC61-alpha
IPR030659 SecY_CS
IPR023201 SecY_dom_sf
IPR019561 Translocon_Sec61/SecY_plug_dom
PANTHERiPTHR10906 PTHR10906, 1 hit
PfamiView protein in Pfam
PF10559 Plug_translocon, 1 hit
PF00344 SecY, 1 hit
PIRSFiPIRSF004557 SecY, 1 hit
SUPFAMiSSF103491 SSF103491, 1 hit
TIGRFAMsiTIGR00967 3a0501s007, 1 hit
PROSITEiView protein in PROSITE
PS00755 SECY_1, 1 hit
PS00756 SECY_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P61619-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAIKFLEVIK PFCVILPEIQ KPERKIQFKE KVLWTAITLF IFLVCCQIPL
60 70 80 90 100
FGIMSSDSAD PFYWMRVILA SNRGTLMELG ISPIVTSGLI MQLLAGAKII
110 120 130 140 150
EVGDTPKDRA LFNGAQKLFG MIITIGQSIV YVMTGMYGDP SEMGAGICLL
160 170 180 190 200
ITIQLFVAGL IVLLLDELLQ KGYGLGSGIS LFIATNICET IVWKAFSPTT
210 220 230 240 250
VNTGRGMEFE GAIIALFHLL ATRTDKVRAL REAFYRQNLP NLMNLIATIF
260 270 280 290 300
VFAVVIYFQG FRVDLPIKSA RYRGQYNTYP IKLFYTSNIP IILQSALVSN
310 320 330 340 350
LYVISQMLSA RFSGNLLVSL LGTWSDTSSG GPARAYPVGG LCYYLSPPES
360 370 380 390 400
FGSVLEDPVH AVVYIVFMLG SCAFFSKTWI EVSGSSAKDV AKQLKEQQMV
410 420 430 440 450
MRGHRETSMV HELNRYIPTA AAFGGLCIGA LSVLADFLGA IGSGTGILLA
460 470
VTIIYQYFEI FVKEQSEVGS MGALLF
Length:476
Mass (Da):52,265
Last modified:January 23, 2007 - v2
Checksum:i44A9B7B37C7C82E4
GO
Isoform 3 (identifier: P61619-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: Missing.

Note: No experimental confirmation available.
Show »
Length:356
Mass (Da):38,849
Checksum:i51804242521CDA10
GO

Sequence cautioni

The sequence BAC11283 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC11434 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti135G → W in AAD27765 (Ref. 1) Curated1
Sequence conflicti234F → L in BAC11298 (PubMed:14702039).Curated1
Sequence conflicti278T → S in AAD27765 (Ref. 1) Curated1
Sequence conflicti310A → V in AAD27765 (Ref. 1) Curated1
Sequence conflicti316L → F in AAD27765 (Ref. 1) Curated1
Sequence conflicti319S → N in AAD27765 (Ref. 1) Curated1
Sequence conflicti323 – 329TWSDTSS → QWADVSG in AAD27765 (Ref. 1) Curated7
Sequence conflicti335A → S in AAD27765 (Ref. 1) Curated1
Sequence conflicti351 – 355FGSVL → MGAIF in AAD27765 (Ref. 1) Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07705967V → G in HNFJ4; decreases in protein stability; partly confers novel Golgi subcellular location. 1 PublicationCorresponds to variant dbSNP:rs752745051EnsemblClinVar.1
Natural variantiVAR_08023185V → D Probable disease-associated mutation found in a family with hypogammaglobulinemia; decreased function in cotranslational protein targeting to endoplasmic reticulum. 1 Publication1
Natural variantiVAR_077060185T → A in HNFJ4; decreases in protein stability; partly confers novel Golgi subcellular location. 1 PublicationCorresponds to variant dbSNP:rs879255648EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0137471 – 120Missing in isoform 3. 1 PublicationAdd BLAST120

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077032 mRNA Translation: AAD27765.1
AF084458 mRNA Translation: AAD39847.1
AF346602 mRNA Translation: AAK29083.1
AK074907 mRNA Translation: BAC11283.1 Different initiation.
AK074928 mRNA Translation: BAC11298.1
AK075148 mRNA Translation: BAC11434.1 Different initiation.
AL831940 mRNA Translation: CAD38592.1
AL832821 mRNA Translation: CAI46127.1
CCDSiCCDS3046.1 [P61619-1]
RefSeqiNP_037468.1, NM_013336.3 [P61619-1]
UniGeneiHs.518236

Genome annotation databases

EnsembliENST00000243253; ENSP00000243253; ENSG00000058262 [P61619-1]
ENST00000424880; ENSP00000411445; ENSG00000058262 [P61619-3]
GeneIDi29927
KEGGihsa:29927
UCSCiuc003ekb.4 human [P61619-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiS61A1_HUMAN
AccessioniPrimary (citable) accession number: P61619
Secondary accession number(s): P38378
, P57726, Q5JPF8, Q8N0Z4, Q8N3U3, Q8NC71, Q9BU16, Q9Y2R3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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