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Aliases for SEC63 Gene

Aliases for SEC63 Gene

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

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 and Polycystic Liver Disease 1. Among its related pathways are Protein processing in endoplasmic reticulum and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot for SEC63 Gene

  • Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane.

Gene Wiki entry for SEC63 Gene

Additional gene information for SEC63 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC63 Gene

Genomics for SEC63 Gene

GeneHancer (GH) Regulatory Elements for SEC63 Gene

Promoters and enhancers for SEC63 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I107954 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.2 1185 5.3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ENSG00000272476 SEC63 SCML4 RPL23AP50
GH06I108555 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -603.4 -603384 11.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 NFYC FOXO3 PIR59886 ZBTB24 SMPD2 CD164 RNU6-653P ENSG00000271730 SEC63 LINC00222 SESN1
GH06I107847 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16.4 +109.9 109877 1.2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF143 REST KAT8 MIER3 SCML4 SEC63 ENSG00000280135
GH06I107819 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +135.6 135581 5.9 FOXA2 FEZF1 ZNF2 YY1 ZNF213 RXRA ZNF662 TSHZ1 REST RFX3 SCML4 SEC63 ENSG00000280135
GH06I108293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 -336.8 -336840 2.4 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN NR2C1 AFG1L SNX3 SEC63 RPL36AP24
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEC63 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEC63 gene promoter:

Genomic Locations for SEC63 Gene

Genomic Locations for SEC63 Gene
chr6:107,867,756-107,958,278
(GRCh38/hg38)
Size:
90,523 bases
Orientation:
Minus strand
chr6:108,188,960-108,279,482
(GRCh37/hg19)

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:
    • Part of the multicomponent translocon that contains the trimeric SEC61 complex, 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 posLast=135135, posLast=147147, isoforms=300, isoforms=381, posLast=407407, isoforms=633, isoforms=688, and posLast=710710

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SEC63 Gene

Function for SEC63 Gene

Molecular function for SEC63 Gene

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
UniProtKB/Swiss-Prot Function:
Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane.

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 IDA,HDA 22658674
GO:0004872 receptor activity TAS 10799540
GO:0005515 protein binding IPI 21251912
GO:0008565 protein transporter activity IEA --
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:

Animal Model Products

miRNA for SEC63 Gene

miRTarBase miRNAs that target SEC63

Clone Products

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 5
plasma membrane 2
nucleus 2

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:0005622 intracellular IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 22375059
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,IEA 22375059
GO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IMP,IEA 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

Unigene Clusters for SEC63 Gene

SEC63 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SEC63

Expression for SEC63 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SEC63 Gene



Protein tissue co-expression partners for SEC63 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC63 Gene:

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(4.7)
  • Liver(4.6)
  • Kidney(4.4)
  • Blood(4.2)
  • Lung(2.5)

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
Organs:
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 33 34
  • 99.74 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC63 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC63 33 34
  • 94.53 (n)
cow
(Bos Taurus)
Mammalia SEC63 33 34
  • 94.04 (n)
mouse
(Mus musculus)
Mammalia Sec63 33 16 34
  • 91.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEC63 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sec63 33
  • 89.94 (n)
chicken
(Gallus gallus)
Aves SEC63 33 34
  • 83.36 (n)
lizard
(Anolis carolinensis)
Reptilia SEC63 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec63 33
  • 77.14 (n)
Str.10109 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8341 33
zebrafish
(Danio rerio)
Actinopterygii sec63 33 34
  • 68.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta sec63 33 34
  • 50.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007361 33
  • 50.71 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-29 33 34
  • 50.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC63 34 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6082 34
  • 44 (a)
OneToOne
Species where no ortholog for SEC63 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for SEC63 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1014770436 uncertain-significance, Polycystic liver disease 107,869,763(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10685655 benign, Polycystic liver disease 107,868,130(-) GT/GTCGT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10872020 benign, Polycystic liver disease 107,869,803(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111637159 likely-benign, Polycystic liver disease 107,871,448(-) A/G 3_prime_UTR_variant
rs112734053 benign, Polycystic liver disease 107,867,745(-) AAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA downstream_transcript_variant

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

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

Disorders for SEC63 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SEC63 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycystic liver disease 2
  • pcld2
polycystic liver disease 1
  • pcld1
polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
retinitis pigmentosa 33
  • rp33
polycystic kidney disease 2
  • pkd2
- 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 (PCLD2) [MIM:617004]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. {ECO:0000269 PubMed:15133510}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SEC63

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
  2. Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog. (PMID: 10543453) Skowronek MH … Haas IG (Biological chemistry 1999) 2 3 4 58
  3. Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins. (PMID: 23166619) Mades A … Prange R (PloS one 2012) 2 3 58
  4. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. (PMID: 20408955) Van Keimpema L … Drenth JP (Liver international : official journal of the International Association for the Study of the Liver 2011) 3 44 58
  5. Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. (PMID: 18224332) Waanders E … Drenth JP (Histochemistry and cell biology 2008) 3 22 58

Products for SEC63 Gene

Sources for SEC63 Gene

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