Gene Gene information from NCBI Gene database.
Entrez ID 11231
Gene name SEC63 protein translocation regulator
Gene symbol SEC63
Synonyms (NCBI Gene)
DNAJC23ERdj2PCLD2PRO2507SEC63L
Chromosome 6
Chromosome location 6q21
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
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs119103233 C>T Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs727504146 G>- Pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant
rs752018806 TTC>- Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, inframe deletion
rs752868449 T>-,TT Pathogenic Coding sequence variant, frameshift variant
rs766716921 ->A,AA,AAA,AAAA,AAAAA Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
miRNA miRNA information provided by mirtarbase database.
703
miRTarBase ID miRNA Experiments Reference
MIRT026665 hsa-miR-192-5p Microarray 19074876
MIRT030915 hsa-miR-21-5p Microarray 18591254
MIRT051342 hsa-miR-15a-5p CLASH 23622248
MIRT038691 hsa-miR-30c-2-3p CLASH 23622248
MIRT038508 hsa-miR-296-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001889 Process Liver development IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 21251912, 26871637
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608648 21082 ENSG00000025796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGP8
Protein name Translocation protein SEC63 homolog (DnaJ homolog subfamily C member 23)
Protein 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 apol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 104 162 DnaJ domain Domain
PF02889 Sec63 222 500 Sec63 Brl domain Family
PF02889 Sec63 611 713 Sec63 Brl domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with high levels in the liver. {ECO:0000269|PubMed:15133510}.
Sequence
MAGQQFQYDDSGNTFFYFLTSFVGLIVIPATYYLWPRDQNAEQIRLKNIRKVYGRCMWYR
LRLLKPQPNIIPTVKKIVLLAGWALFLFLAYKVSKTDREYQEYNPYEVLNLDPGATVAEI
KKQYRLLSLKYHPDKGGDEVMFMRIAKAYAALTDEESRKNWE
EFGNPDGPQATSFGIALP
AWIVDQKNSILVLLVYGLAFMVILPVVVGSWWYRSIRYSGDQILIRTTQIYTYFVYKTRN
MDMKRLIMVLAGASEFDPQYNKDATSRPTDNILIPQLIREIGSINLKKNEPPLTCPYSLK
ARVLLLSHLARMKIPETLEEDQQFMLKKCPALLQEMVNVICQLIVMARNREEREFRAPTL
ASLENCMKLSQMAVQGLQQFKSPLLQLPHIEEDNLRRVSNHKKYKIKTIQDLVSLKESDR
HTLLHFLEDEKYEEVMAVLGSFPYVTMDIKSQVLDDEDSNNITVGSLVTVLVKLTRQTMA
EVFEKEQSICAAEEQPAEDG
QGETNKNRTKGGWQQKSKGPKKTAKSKKKKPLKKKPTPVL
LPQSKQQKQKQANGVVGNEAAVKEDEEEVSDKGSDSEEEETNRDSQSEKDDGSDRDSDRE
QDEKQNKDDEAEWQELQQSIQRKERALLETKSKITHPVYSLYFPEEKQEWWWLYIADRKE
QTLISMPYHVCTLKDTEEVELKFPAPGKPGNYQYTVFLRSDSYMGLDQIKPLK
LEVHEAK
PVPENHPQWDTAIEGDEDQEDSEGFEDSFEEEEEEEEDDD
Sequence length 760
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein export
Protein processing in endoplasmic reticulum
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
370
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant polycystic liver disease Pathogenic; Likely pathogenic rs1787750092, rs2114458613, rs1011931149, rs2114454119, rs2114453997, rs768615942, rs779331877, rs2114434218, rs2114476431, rs2114406531, rs2114476499, rs2114476485, rs1403483213, rs1787002281, rs749842172
View all (9 more)
RCV005361587
RCV001844876
RCV001844886
RCV001844892
RCV001844905
RCV001844916
RCV001844928
RCV001844934
RCV001844945
RCV001844949
RCV001844951
RCV001844952
RCV001844953
RCV001844954
RCV001844955
RCV001844957
RCV001844958
RCV001844959
RCV001844960
RCV001844961
RCV001844962
RCV001844963
RCV001844964
RCV001844965
Biliary tract abnormality Likely pathogenic; Pathogenic rs768568123 RCV005622119
Polycystic liver disease 1 Likely pathogenic; Pathogenic rs869312977, rs869312978 RCV000210666
RCV000210741
Polycystic liver disease 2 Pathogenic; Likely pathogenic rs2114446923, rs768615942, rs1403483213, rs768568123, rs2114403750, rs755795110, rs773300876, rs1787039042, rs119103233, rs886041027, rs886041028, rs2482059146, rs752868449, rs1323035335, rs869312977
View all (5 more)
RCV001353245
RCV002477879
RCV003992538
RCV002471134
RCV002488454
RCV002506715
RCV001783724
RCV002497853
RCV000002251
RCV000002252
RCV000002253
RCV002471763
RCV002500471
RCV005034440
RCV005031784
RCV003319955
RCV003319956
RCV004018021
RCV000625615
RCV001280819
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Conflicting classifications of pathogenicity rs115710123 RCV001328095
Cholangiocarcinoma Benign; Likely benign; Conflicting classifications of pathogenicity rs9373986, rs77730234, rs66526324, rs115710123 RCV005922029
RCV005922619
RCV005869384
RCV005909315
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs398124248, rs749125299, rs66526324 RCV005868241
RCV005869918
RCV005869385
Colon adenocarcinoma Uncertain significance; Benign rs66526324, rs143570743 RCV005867168
RCV005899024
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 37122003
Kidney Diseases Cystic Associate 36573973
Liver Failure Associate 23209713
Neointima Associate 23209713
Neoplasm Invasiveness Inhibit 24887297
Neoplasm Metastasis Associate 37122003
Neoplasms Associate 37122003
Polycystic Kidney Autosomal Dominant Associate 30135240
Polycystic liver disease Associate 18587325, 23326178, 24706814, 27259053, 27552964, 30135240, 38101549
Retinitis Pigmentosa Associate 19878916