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 comp... See more...

Aliases for SEC61A1 Gene

Aliases for SEC61A1 Gene

  • SEC61 Translocon Subunit Alpha 1 2 3 5
  • Protein Transport Protein Sec61 Subunit Alpha Isoform 1 3 4
  • Sec61 Alpha-1 3 4
  • SEC61A 3 4
  • Protein Transport Protein SEC61 Alpha Subunit 3
  • Protein Transport Protein Sec61 Subunit Alpha 3
  • Sec61 Alpha 1 Subunit (S. Cerevisiae) 2
  • SEC61 Translocon Alpha 1 Subunit 3
  • Sec61 Alpha 1 Subunit 3
  • Sec61 Homolog 3
  • SEC61A1 5
  • HSEC61 3
  • HNFJ4 3
  • SEC61 3

External Ids for SEC61A1 Gene

Previous GeneCards Identifiers for SEC61A1 Gene

  • GC03P124603
  • GC03P127954
  • GC00U912982
  • GC03P129092
  • GC03P129253
  • GC03P127770
  • GC03P125151

Summaries for SEC61A1 Gene

Entrez Gene Summary for SEC61A1 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]

GeneCards Summary for SEC61A1 Gene

SEC61A1 (SEC61 Translocon Subunit Alpha 1) is a Protein Coding gene. Diseases associated with SEC61A1 include Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 and Primary Agammaglobulinemia. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Phagosome. Gene Ontology (GO) annotations related to this gene include ribosome binding. An important paralog of this gene is SEC61A2.

UniProtKB/Swiss-Prot Summary for SEC61A1 Gene

  • Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins (PubMed:22375059, PubMed:29719251). Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis (PubMed:28782633). Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity).

Gene Wiki entry for SEC61A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC61A1 Gene

Genomics for SEC61A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC61A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC61A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC61A1

Top Transcription factor binding sites by QIAGEN in the SEC61A1 gene promoter:
  • AP-1
  • c-Ets-1
  • GATA-6
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SEC61A1 Gene

Latest Assembly
chr3:128,051,641-128,071,683
(GRCh38/hg38)
Size:
20,043 bases
Orientation:
Plus strand

Previous Assembly
chr3:127,771,280-127,790,526
(GRCh37/hg19 by Entrez Gene)
Size:
19,247 bases
Orientation:
Plus strand

chr3:127,770,484-127,790,526
(GRCh37/hg19 by Ensembl)
Size:
20,043 bases
Orientation:
Plus strand

Genomic View for SEC61A1 Gene

Genes around SEC61A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC61A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC61A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC61A1 Gene

Proteins for SEC61A1 Gene

  • Protein details for SEC61A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61619-S61A1_HUMAN
    Recommended name:
    Protein transport protein Sec61 subunit alpha isoform 1
    Protein Accession:
    P61619
    Secondary Accessions:
    • P38378
    • P57726
    • Q5JPF8
    • Q8N0Z4
    • Q8N3U3
    • Q8NC71
    • Q9BU16
    • Q9Y2R3

    Protein attributes for SEC61A1 Gene

    Size:
    476 amino acids
    Molecular mass:
    52265 Da
    Quaternary structure:
    • The ER translocon complex consists of channel-forming core components SEC61A1, SEC61B and SEC61G and different auxiliary components such as SEC62 and SEC63.
    SequenceCaution:
    • Sequence=BAC11283.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11434.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC61A1 Gene

    Alternative splice isoforms for SEC61A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC61A1 Gene

Post-translational modifications for SEC61A1 Gene

  • Ubiquitination at Lys4, Lys10, and Lys21
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC61A1 Gene

Antibodies for research

  • Abcam antibodies for SEC61A1
  • Boster Bio Antibodies for SEC61A1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SEC61A1

No data available for DME Specific Peptides for SEC61A1 Gene

Domains & Families for SEC61A1 Gene

Gene Families for SEC61A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SEC61A1 Gene

InterPro:
Blocks:
  • SecY protein
ProtoNet:

Suggested Antigen Peptide Sequences for SEC61A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ90225 fis, clone NT2RM1000855, highly similar to Protein transport protein Sec61 subunit alpha isoform 1 (B3KNF6_HUMAN)
  • cDNA FLJ59739, highly similar to Protein transport protein Sec61 subunit alpha isoform 1 (B4DR61_HUMAN)
  • Protein transport protein Sec61 subunit alpha isoform 1 (S61A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61619

UniProtKB/Swiss-Prot:

S61A1_HUMAN :
  • Belongs to the SecY/SEC61-alpha family.
Family:
  • Belongs to the SecY/SEC61-alpha family.
genes like me logo Genes that share domains with SEC61A1: view

Function for SEC61A1 Gene

Molecular function for SEC61A1 Gene

UniProtKB/Swiss-Prot Function:
Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins (PubMed:22375059, PubMed:29719251). Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis (PubMed:28782633). Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity).

Phenotypes From GWAS Catalog for SEC61A1 Gene

Gene Ontology (GO) - Molecular Function for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005048 signal sequence binding IBA 21873635
GO:0005262 calcium channel activity IMP 28782633
GO:0005515 protein binding IPI 22314232
GO:0008320 protein transmembrane transporter activity IBA 21873635
GO:0043022 ribosome binding ISS --
genes like me logo Genes that share ontologies with SEC61A1: view
genes like me logo Genes that share phenotypes with SEC61A1: view

Human Phenotype Ontology for SEC61A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for SEC61A1 Gene

miRTarBase miRNAs that target SEC61A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC61A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC61A1 Gene

Localization for SEC61A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC61A1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Localizes exclusively in granular structures in the endoplasmic reticulum (ER). {ECO:0000269 PubMed:27392076}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC61A1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005784 Sec61 translocon complex IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA,IDA 27392076
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC61A1: view

Pathways & Interactions for SEC61A1 Gene

genes like me logo Genes that share pathways with SEC61A1: view

Pathways by source for SEC61A1 Gene

3 GeneGo (Thomson Reuters) pathways for SEC61A1 Gene
  • Immune response Antigen presentation by MHC class I
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
1 Qiagen pathway for SEC61A1 Gene
  • Cholera Infection

Gene Ontology (GO) - Biological Process for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006613 cotranslational protein targeting to membrane IMP 28782633
GO:0006614 SRP-dependent cotranslational protein targeting to membrane IMP 22375059
GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation IBA 21873635
GO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IMP 22375059
GO:0007029 endoplasmic reticulum organization IMP 22375059
genes like me logo Genes that share ontologies with SEC61A1: view

No data available for SIGNOR curated interactions for SEC61A1 Gene

Drugs & Compounds for SEC61A1 Gene

No Compound Related Data Available

Transcripts for SEC61A1 Gene

mRNA/cDNA for SEC61A1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC61A1

Alternative Splicing Database (ASD) splice patterns (SP) for SEC61A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - -
SP4: - -
SP5: - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - -
SP8: - - - -
SP9: - - - - - - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - - - - - - - - - - - - - - - - -
SP12: - -
SP13: -
SP14:
SP15:
SP16:

ExUns: 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9: - - - - - -
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for SEC61A1 Gene

GeneLoc Exon Structure for
SEC61A1

Expression for SEC61A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC61A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC61A1 Gene

This gene is overexpressed in Nasal epithelium (23.0) and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC61A1 Gene



Protein tissue co-expression partners for SEC61A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC61A1

SOURCE GeneReport for Unigene cluster for SEC61A1 Gene:

Hs.518236

mRNA Expression by UniProt/SwissProt for SEC61A1 Gene:

P61619-S61A1_HUMAN
Tissue specificity: Expressed in proximal and distal tubules in kidney (at protein level).

Evidence on tissue expression from TISSUES for SEC61A1 Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Lymph node(4.5)
  • Bone marrow(4.5)
  • Skin(4.2)
  • Kidney(4)
  • Intestine(3.8)
  • Eye(3.6)
  • Liver(3.5)
  • Pancreas(2.8)
  • Bone(2.8)
  • Stomach(2.6)
  • Spleen(2.6)
  • Thyroid gland(2.4)
  • Muscle(2.3)
  • Heart(2.3)
  • Blood(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with SEC61A1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC61A1 Gene

Orthologs for SEC61A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC61A1 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia SEC61A1 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia SEC61A1 30 31
  • 99.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC61A1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC61A1 30 31
  • 90.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec61a1 30 17 31
  • 90.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec61a1 30
  • 89.99 (n)
Cow
(Bos Taurus)
Mammalia SEC61A1 30 31
  • 87.82 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SEC61A1 30 31
  • 82.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC61A1 31
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec61a1 30
  • 80.46 (n)
Str.5949 30
African clawed frog
(Xenopus laevis)
Amphibia sec61a1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii sec61al2 31
  • 96 (a)
OneToMany
sec61a1 30 31
  • 80.25 (n)
OneToMany
sec61a 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4091 30
Fruit Fly
(Drosophila melanogaster)
Insecta Sec61alpha 31 32
  • 89 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-61 31
  • 85 (a)
OneToMany
Y57G11C.15 32
  • 84 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01145g 30
  • 57.81 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR596W 30
  • 57.54 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC61 30 31 33
  • 57.15 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G29310 30
  • 67.02 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.569 30
Rice
(Oryza sativa)
Liliopsida Os09g0347700 30
  • 66.6 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2104 30
Wheat
(Triticum aestivum)
Liliopsida Ta.247 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11324 31
  • 79 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU08897 30
  • 63.84 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec61 30
  • 57.91 (n)
Species where no ortholog for SEC61A1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SEC61A1 Gene

ENSEMBL:
Gene Tree for SEC61A1 (if available)
TreeFam:
Gene Tree for SEC61A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC61A1: view image

Paralogs for SEC61A1 Gene

Paralogs for SEC61A1 Gene

(1) SIMAP similar genes for SEC61A1 Gene using alignment to 4 proteins:

  • S61A1_HUMAN
  • B3KNF6_HUMAN
  • B4DR61_HUMAN
  • C9JXC6_HUMAN

Pseudogenes.org Pseudogenes for SEC61A1 Gene

genes like me logo Genes that share paralogs with SEC61A1: view

Variants for SEC61A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC61A1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs11926533 Benign: not provided 128,069,629(+) C/T
NM_013336.4(SEC61A1):c.1398C>T (p.Ser466=)
SYNONYMOUS_VARIANT,INTRON
rs147461692 Likely Pathogenic: not provided 128,069,515(+) C/G
NM_013336.4(SEC61A1):c.1284C>G (p.Ile428Met)
MISSENSE_VARIANT,INTRON
rs150297407 Benign: not provided 128,060,513(+) T/C
NM_013336.4(SEC61A1):c.468T>C (p.Phe156=)
SYNONYMOUS
rs1553721236 Likely Pathogenic: Decreased antibody level in blood. - 128,056,742(+) T/Ap.Val85Asp
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)
MISSENSE
rs1553722508 Uncertain Significance: not provided 128,068,013(+) G/A
NM_013336.4(SEC61A1):c.1198G>A (p.Val400Met)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC61A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEC61A1 Gene

Variant ID Type Subtype PubMed ID
esv2477995 CNV insertion 19546169
nsv1001879 CNV gain 25217958
nsv1002685 CNV gain 25217958
nsv3991 CNV insertion 18451855

Variation tolerance for SEC61A1 Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC61A1 Gene

Human Gene Mutation Database (HGMD)
SEC61A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC61A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC61A1 Gene

Disorders for SEC61A1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SEC61A1 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
tubulointerstitial kidney disease, autosomal dominant, 5
  • adtkd5
primary agammaglobulinemia
  • antibody deficiency
agammaglobulinemia
  • hypogammaglobulinemia
buruli ulcer
  • buruli ulcer, susceptibility to
kidney disease
  • impaired renal function disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S61A1_HUMAN
  • Familial juvenile hyperuricemic nephropathy 4 (HNFJ4) [MIM:617056]: An autosomal dominant renal disorder characterized by progressive chronic kidney disease, anemia, elevated serum creatinine levels, and hyperuricemia. {ECO:0000269 PubMed:27392076}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=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. {ECO:0000269 PubMed:28782633}.

Additional Disease Information for SEC61A1

genes like me logo Genes that share disorders with SEC61A1: view

No data available for Genatlas for SEC61A1 Gene

Publications for SEC61A1 Gene

  1. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. (PMID: 27392076) Bolar NA … Loeys BL (American journal of human genetics 2016) 3 4 74
  2. Chaperone-Mediated Sec61 Channel Gating during ER Import of Small Precursor Proteins Overcomes Sec61 Inhibitor-Reinforced Energy Barrier. (PMID: 29719251) Haßdenteufel S … Zimmermann R (Cell reports 2018) 3 4
  3. Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). (PMID: 28782633) Schubert D … Grimbacher B (The Journal of allergy and clinical immunology 2018) 3 4
  4. Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. (PMID: 22375059) Lang S … Dudek J (Journal of cell science 2012) 3 4
  5. Control of translocation through the Sec61 translocon by nascent polypeptide structure within the ribosome. (PMID: 18480044) Daniel CJ … Skach WR (The Journal of biological chemistry 2008) 2 3

Products for SEC61A1 Gene

Sources for SEC61A1 Gene