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Gene Gene information from NCBI Gene database.
Entrez ID 6396
Gene name SEC13 homolog, nuclear pore and COPII component
Gene symbol SEC13
Synonyms (NCBI Gene)
D3S1231ESEC13L1SEC13Rnpp-20
Chromosome 3
Chromosome location 3p25.3
Summary The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from
miRNA miRNA information provided by mirtarbase database.
129 Show/Hide all (129)
miRTarBase ID miRNA Experiments Reference
MIRT048659 hsa-miR-99a-5p CLASH 23622248
MIRT041012 hsa-miR-505-3p CLASH 23622248
MIRT039516 hsa-miR-652-3p CLASH 23622248
MIRT1332174 hsa-miR-1207-3p CLIP-seq
MIRT1332175 hsa-miR-124 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45 Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IDA 15146057
GO:0005198 Function Structural molecule activity IBA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 15146057, 16189514, 16407955, 16957052, 17428803, 18160040, 18692470, 19638414, 19822759, 20696395, 24981860, 25201882, 25416956, 26496610, 27194810, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600152 10697 ENSG00000157020
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55735
Protein name Protein SEC13 homolog (GATOR2 complex protein SEC13) (SEC13-like protein 1) (SEC13-related protein)
Protein function Functions as a component of the nuclear pore complex (NPC) and the COPII coat (PubMed:8972206). At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/AD
PDB 3BG0 , 3BG1 , 5A9Q , 7PEQ , 7R5J , 7R5K , 7UHY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 47 → 87 WD domain, G-beta repeat Repeat
PF00400 WD40 202 → 244 WD domain, G-beta repeat Repeat
PF00400 WD40 93 → 131 WD domain, G-beta repeat Repeat
PF00400 WD40 4 → 41 WD domain, G-beta repeat Repeat
PF00400 WD40 254 → 290 WD domain, G-beta repeat Repeat
Sequence
Sequence length 322
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport ISG15 antiviral mechanism
Protein processing in endoplasmic reticulum Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
mTOR signaling pathway Transport of the SLBP independent Mature mRNA
Amyotrophic lateral sclerosis Transport of the SLBP Dependant Mature mRNA
  Transport of Mature mRNA Derived from an Intronless Transcript
  Transport of Mature mRNA derived from an Intron-Containing Transcript
  Rev-mediated nuclear export of HIV RNA
  Transport of Ribonucleoproteins into the Host Nucleus
  NS1 Mediated Effects on Host Pathways
  Viral Messenger RNA Synthesis
  NEP/NS2 Interacts with the Cellular Export Machinery
  Regulation of Glucokinase by Glucokinase Regulatory Protein
  Vpr-mediated nuclear import of PICs
  snRNP Assembly
  COPII-mediated vesicle transport
  MHC class II antigen presentation
  Separation of Sister Chromatids
  Resolution of Sister Chromatid Cohesion
  SUMOylation of DNA damage response and repair proteins
  SUMOylation of ubiquitinylation proteins
  Nuclear Pore Complex (NPC) Disassembly
  Regulation of HSF1-mediated heat shock response
  SUMOylation of SUMOylation proteins
  SUMOylation of chromatin organization proteins
  SUMOylation of RNA binding proteins
  Transcriptional regulation by small RNAs
  Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
  RHO GTPases Activate Formins
  tRNA processing in the nucleus
  Mitotic Prometaphase
  HCMV Early Events
  HCMV Late Events
  Postmitotic nuclear pore complex (NPC) reformation
  Amino acids regulate mTORC1
  EML4 and NUDC in mitotic spindle formation
  Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
PROGRESSIVE SUPRANUCLEAR PALSY — GWAS catalog 33635380
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Demyelinating Diseases Demyelinating diseases Pubtator 35143418 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 28812028 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 10922384 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35449150 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Supranuclear Palsy Progressive Progressive supranuclear palsy Pubtator 33635380 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Von Hippel-Lindau Syndrome Von Hippel-Lindau Syndrome BEFREE 7987303
★★★★★
★☆☆☆☆
Found in Text Mining only