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SEC63 SEC63 homolog, protein translocation regulator [ Homo sapiens (human) ]

Gene ID: 11231, updated on 11-Apr-2024

Summary

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Official Symbol
SEC63provided by HGNC
Official Full Name
SEC63 homolog, protein translocation regulatorprovided by HGNC
Primary source
HGNC:HGNC:21082
See related
Ensembl:ENSG00000025796 MIM:608648; AllianceGenome:HGNC:21082
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERdj2; PCLD2; SEC63L; DNAJC23; PRO2507
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 36.4), testis (RPKM 22.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6q21
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (107867756..107958208, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (109045456..109135362, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (108188960..108279412, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107995930-107996511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107996512-107997092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17443 Neighboring gene Scm polycomb group protein like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24908 Neighboring gene Sharpr-MPRA regulatory region 13974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108181119-108181688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108181689-108182258 Neighboring gene MPRA-validated peak6008 silencer Neighboring gene RNA, U6 small nuclear 437, pseudogene Neighboring gene ribosomal protein L23a pseudogene 50 Neighboring gene Sharpr-MPRA regulatory region 2315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:108278851-108279452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108280055-108280655 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:108309594-108310300 Neighboring gene NANOG hESC enhancer GRCh37_chr6:108324112-108324621 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 3 Neighboring gene ribosomal protein L3 pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Molecular Mechanism for Turning Off IRE1α Signaling during Endoplasmic Reticulum Stress. Li X, et al. Cell Rep, 2020 Dec 29. PMID 33378667, Free PMC Article
  2. Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins. Mades A, et al. PLoS One, 2012. PMID 23166619, Free PMC Article
  3. Proteins of the endoplasmic-reticulum-associated degradation pathway: domain detection and function prediction. Ponting CP. Biochem J, 2000 Oct 15. PMID 11023840, Free PMC Article
  4. Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog. Skowronek MH, et al. Biol Chem, 1999 Sep. PMID 10543453
  5. Human Sec63 endoplasmic reticulum membrane protein, map position 6q21. Woollatt E, et al. Chromosome Res, 1999. PMID 10219736

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation of ACLY by SEC63 deploys metabolic reprogramming to facilitate hepatocellular carcinoma metastasis upon endoplasmic reticulum stress.
    Title: Activation of ACLY by SEC63 deploys metabolic reprogramming to facilitate hepatocellular carcinoma metastasis upon endoplasmic reticulum stress.
  2. Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
    Title: Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
  3. A Molecular Mechanism for Turning Off IRE1alpha Signaling during Endoplasmic Reticulum Stress.
    Title: A Molecular Mechanism for Turning Off IRE1α Signaling during Endoplasmic Reticulum Stress.
  4. Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import.
    Title: Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import.
  5. Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted.
    Title: Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
  6. a SEC63 germline mutation may play a role in cyst formation in polycystic liver disease
    Title: Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
  7. Phosphorylation of Sec63 by CK2 enhanced its binding to Sec62
    Title: CK2 phosphorylation of human Sec63 regulates its interaction with Sec62.
  8. Sec63 may perform a substrate-selective quantity control function during cotranslational endoplasmic reticulum import.
    Title: Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins.
  9. Silencing the human SEC63 genes inhibits transport of only a subset of signal-peptide-containing precursor proteins to endoplasmic reticulum.
    Title: Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.
  10. identified nucleoredoxin as an interaction partner of Sec63; characterized this interaction; Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to polycystic liver disease
    Title: An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Polycystic liver disease 2
MedGen: C4310769 OMIM: 617004 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in SRP-dependent cotranslational protein targeting to membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within SRP-dependent cotranslational protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
  
involved_in post-translational protein targeting to endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within post-translational protein targeting to endoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in post-translational protein targeting to membrane, translocation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting to membrane TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of Sec62/Sec63 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
translocation protein SEC63 homolog
Names
SEC63 protein translocation regulator
SEC63-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008270.1 RefSeqGene

    Range
    5071..95523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007214.5 → NP_009145.1  translocation protein SEC63 homolog

    See identical proteins and their annotated locations for NP_009145.1

    Status: REVIEWED

    Source sequence(s)
    AJ011779, AL024507, BC047221, BM764168, DB049187
    Consensus CDS
    CCDS5061.1
    UniProtKB/Swiss-Prot
    O95380, Q5THN4, Q86VS9, Q8IWL0, Q9NTE0, Q9UGP8
    UniProtKB/TrEMBL
    A0A0S2Z5M1, B3KQF0
    Related
    ENSP00000357998.4, ENST00000369002.9
    Conserved Domains (2) summary
    smart00611
    Location:209 → 715
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    pfam00226
    Location:104 → 162
    DnaJ; DnaJ domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    107867756..107958208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418131.1 → XP_047274087.1  translocation protein SEC63 homolog isoform X2

  2. XM_047418130.1 → XP_047274086.1  translocation protein SEC63 homolog isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    109045456..109135362 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354130.1 → XP_054210105.1  translocation protein SEC63 homolog isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018529.1: Suppressed sequence

    Description
    NM_018529.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UGP8.2 GenPept UniProtKB/Swiss-Prot:Q9UGP8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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