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Aliases for SEC61A1 Gene

Aliases for SEC61A1 Gene

  • Sec61 Translocon Alpha 1 Subunit 2 3 5
  • Sec61 Alpha-1 3 4
  • SEC61A 3 4
  • Protein Transport Protein Sec61 Subunit Alpha Isoform 1 3
  • Protein Transport Protein SEC61 Alpha Subunit 3
  • Protein Transport Protein Sec61 Subunit Alpha 3
  • Sec61 Alpha 1 Subunit (S. Cerevisiae) 2
  • Sec61 Alpha 1 Subunit 3
  • Sec61 Homolog 3
  • 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 Alpha 1 Subunit) is a Protein Coding gene. Diseases associated with SEC61A1 include Familial Juvenile Hyperuricemic Nephropathy 4. Among its related pathways are Immune System and Protein processing in endoplasmic reticulum. GO annotations related to this gene include ribosome binding. An important paralog of this gene is SEC61A2.

UniProtKB/Swiss-Prot for SEC61A1 Gene

  • Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or through adapter proteins.

Gene Wiki entry for SEC61A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC61A1 Gene

Genomics for SEC61A1 Gene

Regulatory Elements for SEC61A1 Gene

Enhancers for SEC61A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F128051 1.1 ENCODE 21.8 +1.9 1879 4.8 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 ZHX2 SEC61A1 RUVBL1-AS1 RNU2-37P LOC102723759 GC03M128076
GH03F127888 1.5 FANTOM5 Ensembl ENCODE 9.8 -161.8 -161756 3.2 PKNOX1 FEZF1 CBX5 ZNF143 FOS SP3 YY2 JUNB REST TSHZ1 EEFSEC KBTBD12 RUVBL1 RPS15AP16 RPN1 PODXL2 SEC61A1 GC03P127885 GC03P127895
GH03F128079 1.5 FANTOM5 Ensembl ENCODE 9.5 +29.2 29172 3.5 SIN3A THRB RAD21 RARA YY1 ZNF366 FOS USF2 MEF2D TFDP1 GATA2 SEC61A1 EEFSEC DNAJB8 RUVBL1-AS1 PIR39032
GH03F128074 1.4 FANTOM5 ENCODE 9.5 +25.2 25153 3.7 PKNOX1 ATF1 CREB3L1 GATA2 ZNF143 KLF13 SP3 YY2 NCOA1 REST GATA2 RUVBL1 SEC61A1 DNAJB8 RUVBL1-AS1 PIR39032
GH03F128778 1.3 Ensembl ENCODE 9.7 +735.6 735590 16.9 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A BRCA1 ZNF2 YY1 GLIS2 FOS RPL32P3 ENSG00000244932 ISY1 EEFSEC LOC653712 H1FX-AS1 IFT122 ENSG00000250796 ENSG00000207130 RAB7A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC61A1 on UCSC Golden Path with GeneCards custom track

Promoters for SEC61A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001483375 760 2800 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZHX2

Genomic Location for SEC61A1 Gene

Chromosome:
3
Start:
128,051,641 bp from pter
End:
128,071,683 bp from pter
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:
    • Heterotrimeric complex composed of SEC61-alpha, SEC61-beta and SEC61-gamma.
    SequenceCaution:
    • Sequence=BAC11283.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11434.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEC61A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC61A1 Gene

Post-translational modifications for SEC61A1 Gene

  • Ubiquitination at Lys 4 and Lys 21
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC61A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SEC61A1 (SEC61A1)

No data available for DME Specific Peptides for SEC61A1 Gene

Domains & Families for SEC61A1 Gene

Protein Domains for SEC61A1 Gene

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

No data available for Gene Families for SEC61A1 Gene

Function for SEC61A1 Gene

Molecular function for SEC61A1 Gene

UniProtKB/Swiss-Prot Function:
Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or through adapter proteins.

Gene Ontology (GO) - Molecular Function for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22314232
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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

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 3
nucleus 2
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 27392076
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 22375059
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

Gene Ontology (GO) - Biological Process for SEC61A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006614 SRP-dependent cotranslational protein targeting to membrane IMP 22375059
GO:0006620 posttranslational protein targeting to membrane IMP 22375059
GO:0006810 transport IEA --
GO:0007029 endoplasmic reticulum organization IMP 22375059
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SEC61A1: view

No data available for SIGNOR curated interactions for SEC61A1 Gene

Transcripts for SEC61A1 Gene

Unigene Clusters for SEC61A1 Gene

Sec61 alpha 1 subunit (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for SEC61A1 Gene



Protein tissue co-expression partners for SEC61A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC61A1 Gene:

SEC61A1

SOURCE GeneReport for Unigene cluster for SEC61A1 Gene:

Hs.518236
genes like me logo Genes that share expression patterns with SEC61A1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEC61A1 34 35
  • 99.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEC61A1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC61A1 34 35
  • 90.97 (n)
mouse
(Mus musculus)
Mammalia Sec61a1 34 16 35
  • 90.34 (n)
rat
(Rattus norvegicus)
Mammalia Sec61a1 34
  • 89.99 (n)
cow
(Bos Taurus)
Mammalia SEC61A1 34 35
  • 87.82 (n)
chicken
(Gallus gallus)
Aves SEC61A1 34 35
  • 82.35 (n)
lizard
(Anolis carolinensis)
Reptilia SEC61A1 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec61a1 34
  • 80.46 (n)
Str.5949 34
African clawed frog
(Xenopus laevis)
Amphibia sec61a1-prov 34
zebrafish
(Danio rerio)
Actinopterygii sec61al2 35
  • 96 (a)
OneToMany
sec61a1 34 35
  • 80.25 (n)
sec61a 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4091 34
fruit fly
(Drosophila melanogaster)
Insecta Sec61alpha 36 35
  • 88 (a)
worm
(Caenorhabditis elegans)
Secernentea sec-61 35
  • 85 (a)
OneToMany
Y57G11C.15 36
  • 84 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01145g 34
  • 57.81 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR596W 34
  • 57.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC61 34 35 37
  • 57.15 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G29310 34
  • 67.02 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.569 34
rice
(Oryza sativa)
Liliopsida Os09g0347700 34
  • 66.6 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2104 34
wheat
(Triticum aestivum)
Liliopsida Ta.247 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11324 35
  • 79 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08897 34
  • 63.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec61 34
  • 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 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)

Paralogs for SEC61A1 Gene

Paralogs for SEC61A1 Gene

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

Pseudogenes.org Pseudogenes for SEC61A1 Gene

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

Variants for SEC61A1 Gene

Sequence variations from dbSNP and Humsavar for SEC61A1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_077059 Familial juvenile hyperuricemic nephropathy 4 (HNFJ4) [MIM:617056]
VAR_077060 Familial juvenile hyperuricemic nephropathy 4 (HNFJ4) [MIM:617056]
rs752745051 Pathogenic 128,055,731(+) GAGAG(G/T)GATTC reference, missense
rs879255648 Pathogenic 128,060,598(+) TTGCA(A/G)CTAAC reference, missense
rs1030655 -- 128,054,833(-) CCAAA(A/G)CCTCT intron-variant

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

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

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)

Relevant External Links for SEC61A1 Gene

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

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

Disorders for SEC61A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEC61A1 Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
familial juvenile hyperuricemic nephropathy 4
  • hyperuricemic nephropathy, familial juvenile, 4
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEC61A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC61A1
genes like me logo Genes that share disorders with SEC61A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC61A1 Gene

Publications for SEC61A1 Gene

  1. Control of translocation through the Sec61 translocon by nascent polypeptide structure within the ribosome. (PMID: 18480044) Daniel C.J. … Skach W.R. (J. Biol. Chem. 2008) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment. (PMID: 10212142) Greenfield J.J. … High S. (J. Cell. Sci. 1999) 2 3 64
  4. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. (PMID: 27392076) Bolar N.A. … Loeys B.L. (Am. J. Hum. Genet. 2016) 3 64
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64

Products for SEC61A1 Gene

Sources for SEC61A1 Gene

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