The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might ... See more...

Aliases for SEC63 Gene

Aliases for SEC63 Gene

  • SEC63 Homolog, Protein Translocation Regulator 2 3 5
  • SEC63L 2 3 4
  • Translocation Protein SEC63 Homolog 3 4
  • DNAJC23 2 3
  • PRO2507 2 3
  • ERdj2 2 3
  • SEC63 Protein Translocation Regulator 3
  • SEC63 Homolog (S. Cerevisiae) 2
  • SEC63-Like (S. Cerevisiae) 2
  • SEC63-Like Protein 3
  • PCLD2 3
  • SEC63 5

External Ids for SEC63 Gene

Previous GeneCards Identifiers for SEC63 Gene

  • GC06M108192
  • GC06M108237
  • GC06M108298
  • GC06M105758
  • GC06M108188

Summaries for SEC63 Gene

Entrez Gene Summary for SEC63 Gene

  • The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEC63 Gene

SEC63 (SEC63 Homolog, Protein Translocation Regulator) is a Protein Coding gene. Diseases associated with SEC63 include Polycystic Liver Disease 2 With Or Without Kidney Cysts and Polycystic Liver Disease. Among its related pathways are Metabolism of proteins and Protein processing in endoplasmic reticulum.

UniProtKB/Swiss-Prot Summary for SEC63 Gene

  • Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).

Gene Wiki entry for SEC63 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC63 Gene

Genomics for SEC63 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC63 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 SEC63 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC63

Top Transcription factor binding sites by QIAGEN in the SEC63 gene promoter:
  • ATF6
  • Cart-1
  • ER-alpha
  • FAC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • ITF-2
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for SEC63 Gene

Latest Assembly
chr6:107,867,756-107,958,208
(GRCh38/hg38)
Size:
90,453 bases
Orientation:
Minus strand

Previous Assembly
chr6:108,188,960-108,279,412
(GRCh37/hg19 by Entrez Gene)
Size:
90,453 bases
Orientation:
Minus strand

chr6:108,188,960-108,279,393
(GRCh37/hg19 by Ensembl)
Size:
90,434 bases
Orientation:
Minus strand

Genomic View for SEC63 Gene

Genes around SEC63 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC63 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC63 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC63 Gene

Proteins for SEC63 Gene

  • Protein details for SEC63 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGP8-SEC63_HUMAN
    Recommended name:
    Translocation protein SEC63 homolog
    Protein Accession:
    Q9UGP8
    Secondary Accessions:
    • O95380
    • Q5THN4
    • Q86VS9
    • Q8IWL0
    • Q9NTE0

    Protein attributes for SEC63 Gene

    Size:
    760 amino acids
    Molecular mass:
    87997 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=AAH23598.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for SEC63 Gene

Post-translational modifications for SEC63 Gene

  • Ubiquitination at Lys135, Lys147, Lys300, Lys381, Lys407, Lys633, Lys688, and Lys710
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC63 Gene

No data available for DME Specific Peptides for SEC63 Gene

Domains & Families for SEC63 Gene

Gene Families for SEC63 Gene

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

Protein Domains for SEC63 Gene

Suggested Antigen Peptide Sequences for SEC63 Gene

GenScript: Design optimal peptide antigens:
  • Translocation protein SEC63 homolog (SEC63_HUMAN)
genes like me logo Genes that share domains with SEC63: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SEC63 Gene

Function for SEC63 Gene

Molecular function for SEC63 Gene

UniProtKB/Swiss-Prot Function:
Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).
GENATLAS Biochemistry:
S cerevisiae SEC63P homolog rough,endoplamic reticulum integral membrane protein,component of the transmembrane complex that mediates posttranslational translocation of nescent peptides across the ER

Phenotypes From GWAS Catalog for SEC63 Gene

Gene Ontology (GO) - Molecular Function for SEC63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0005515 protein binding IPI 21251912
GO:0008320 protein transmembrane transporter activity IBA 21873635
GO:0038023 signaling receptor activity TAS 10799540
genes like me logo Genes that share ontologies with SEC63: view
genes like me logo Genes that share phenotypes with SEC63: view

Human Phenotype Ontology for SEC63 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC63 Gene

MGI Knock Outs for SEC63:
  • Sec63 Sec63<tm1b(EUCOMM)Hmgu>
  • Sec63 Sec63<tm1.1Som>

miRNA for SEC63 Gene

miRTarBase miRNAs that target SEC63

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC63

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEC63 Gene

Localization for SEC63 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC63 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 SEC63 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
plasma membrane 3
nucleus 3
mitochondrion 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SEC63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 22375059
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEC63: view

Pathways & Interactions for SEC63 Gene

genes like me logo Genes that share pathways with SEC63: view

Gene Ontology (GO) - Biological Process for SEC63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006612 protein targeting to membrane TAS 10799540
GO:0006614 SRP-dependent cotranslational protein targeting to membrane IMP 22375059
GO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IMP 22375059
GO:0006807 nitrogen compound metabolic process IEA --
genes like me logo Genes that share ontologies with SEC63: view

No data available for SIGNOR curated interactions for SEC63 Gene

Drugs & Compounds for SEC63 Gene

No Compound Related Data Available

Transcripts for SEC63 Gene

mRNA/cDNA for SEC63 Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
10 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 SEC63

Alternative Splicing Database (ASD) splice patterns (SP) for SEC63 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3:

Relevant External Links for SEC63 Gene

GeneLoc Exon Structure for
SEC63

Expression for SEC63 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC63 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC63 Gene

This gene is overexpressed in Nasal epithelium (22.1) and Pancreas (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC63 Gene



Protein tissue co-expression partners for SEC63 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC63

SOURCE GeneReport for Unigene cluster for SEC63 Gene:

Hs.26904

mRNA Expression by UniProt/SwissProt for SEC63 Gene:

Q9UGP8-SEC63_HUMAN
Tissue specificity: Widely expressed, with high levels in the liver.

Evidence on tissue expression from TISSUES for SEC63 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Kidney(4.5)
  • Blood(4.4)
  • Pancreas(2.5)
  • Lung(2.5)
  • Heart(2.3)
  • Skin(2.3)
  • Stomach(2.3)
  • Intestine(2.1)
  • Muscle(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC63 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with SEC63: view

No data available for mRNA differential expression in normal tissues for SEC63 Gene

Orthologs for SEC63 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC63 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC63 30 31
  • 99.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEC63 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC63 30 31
  • 94.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC63 30 31
  • 94.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec63 30 17 31
  • 91.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC63 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec63 30
  • 89.94 (n)
Chicken
(Gallus gallus)
Aves SEC63 30 31
  • 83.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC63 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec63 30
  • 77.14 (n)
Str.10109 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8341 30
Zebrafish
(Danio rerio)
Actinopterygii sec63 30 31
  • 68.57 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sec63 30 31
  • 50.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007361 30
  • 50.71 (n)
Worm
(Caenorhabditis elegans)
Secernentea dnj-29 30 31
  • 50.14 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC63 31 33
  • 22 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6082 31
  • 44 (a)
OneToOne
Species where no ortholog for SEC63 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC63 Gene

ENSEMBL:
Gene Tree for SEC63 (if available)
TreeFam:
Gene Tree for SEC63 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC63: view image

Paralogs for SEC63 Gene

Pseudogenes.org Pseudogenes for SEC63 Gene

genes like me logo Genes that share paralogs with SEC63: view

No data available for Paralogs for SEC63 Gene

Variants for SEC63 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC63 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
904008 Uncertain Significance: Polycystic liver disease 2 107,867,885(-) T/C
NM_007214.5(SEC63):c.*3819A>G
THREE_PRIME_UTR
904070 Uncertain Significance: Polycystic liver disease 2 107,868,672(-) T/C
NM_007214.5(SEC63):c.*3032A>G
THREE_PRIME_UTR
904071 Uncertain Significance: Polycystic liver disease 2 107,868,758(-) G/A
NM_007214.5(SEC63):c.*2946C>T
THREE_PRIME_UTR
904072 Uncertain Significance: Polycystic liver disease 2 107,868,913(-) A/G
NM_007214.5(SEC63):c.*2791T>C
THREE_PRIME_UTR
904137 Uncertain Significance: Polycystic liver disease 2 107,869,872(-) T/C
NM_007214.5(SEC63):c.*1832A>G
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC63 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 SEC63 Gene

Variant ID Type Subtype PubMed ID
dgv3361n106 CNV deletion 24896259
esv1260742 CNV deletion 17803354
esv2274293 CNV deletion 18987734
esv2438036 CNV deletion 19546169
esv2513800 CNV deletion 19546169
esv2677459 CNV deletion 23128226
esv2732554 CNV deletion 23290073
esv3540285 CNV deletion 23714750
esv3610305 CNV loss 21293372
esv3718 CNV loss 18987735
esv7155 CNV loss 19470904
nsv1030653 CNV gain 25217958
nsv1073582 CNV deletion 25765185
nsv1114863 CNV deletion 24896259
nsv348411 CNV deletion 16902084
nsv823816 CNV loss 20364138
nsv830765 CNV loss 17160897
nsv957547 CNV deletion 24416366

Variation tolerance for SEC63 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC63 Gene

Human Gene Mutation Database (HGMD)
SEC63
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC63

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC63 Gene

Disorders for SEC63 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SEC63 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SEC63 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SEC63_HUMAN
  • Polycystic liver disease 2 with or without kidney cysts (PCLD2) [MIM:617004]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269 PubMed:15133510, ECO:0000269 PubMed:28375157}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SEC63

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEC63: view

No data available for Genatlas for SEC63 Gene

Publications for SEC63 Gene

  1. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (PMID: 16835903) Waanders E … Drenth JP (Human mutation 2006) 3 23 41
  2. Mutations in SEC63 cause autosomal dominant polycystic liver disease. (PMID: 15133510) Davila S … Somlo S (Nature genetics 2004) 3 4 74
  3. Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog. (PMID: 10543453) Skowronek MH … Haas IG (Biological chemistry 1999) 2 3 4
  4. 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
  5. 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

Products for SEC63 Gene

Sources for SEC63 Gene