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

    Gene ID: 11231, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See SEC63 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (107867756..107958208, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (109045456..109135362, complement)
    RS_2024_09 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 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. Human Sec63 endoplasmic reticulum membrane protein, map position 6q21. Woollatt E, et al. Chromosome Res, 1999. PMID 10219736
    2. Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog. Skowronek MH, et al. Biol Chem, 1999 Sep. PMID 10543453
    3. 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
    4. 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
    5. 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

    See all (116) 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
    		Compare labs

    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 nitrogen cycle metabolic process 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
    dnaJ homolog subfamily C member 23

    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_2024_08

    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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