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Gene Gene information from NCBI Gene database.
Entrez ID 81929
Gene name SEH1 like nucleoporin
Gene symbol SEH1L
Synonyms (NCBI Gene)
SEC13LSEH1ASEH1BSeh1
Chromosome 18
Chromosome location 18p11.21
Summary The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including th
miRNA miRNA information provided by mirtarbase database.
240 Show/Hide all (240)
miRTarBase ID miRNA Experiments Reference
MIRT003158 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT031586 hsa-miR-16-5p Sequencing 20371350
MIRT622316 hsa-miR-6508-5p HITS-CLIP 23824327
MIRT622315 hsa-miR-8067 HITS-CLIP 23824327
MIRT622314 hsa-miR-3613-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41 Show/Hide all (41)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 15146057, 17363900
GO:0000776 Component Kinetochore IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 24315095, 26391640, 26496610, 26972053, 27194810, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609263 30379 ENSG00000085415
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EE3
Protein name Nucleoporin SEH1 (GATOR2 complex protein SEH1) (Nup107-160 subcomplex subunit SEH1) (SEC13-like protein)
Protein function Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC (PubMed:15146057, PubMed:17363900). The Nup107-160 subcomplex is also required for normal kineto
PDB 5A9Q , 7PEQ , 7R5J , 7R5K , 7UHY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 268 → 306 WD domain, G-beta repeat Repeat
PF00400 WD40 5 → 40 WD domain, G-beta repeat Repeat
Sequence
MFVARSIAADHKDLIHDVSFDFHGRRMATCSSDQSVKVWDKSESGDWHCTASWKTHSGSV
WRVTWAHPEFGQVLASCSFDRTAAVWEEIVGESNDKLRGQSHWVKRTTLVDSRTSVTDVK
FAPKHMGLMLATCSADGIVRIYEAPDVMNLSQWSLQHEISCKLSCSCISWNPSSSRAHSP
MIAVGSDDSSPNAMAKVQIFEYNENTRKYAKAETLMTVTDPVHDIAFAPNLGRSFHILAI
ATKDVRIFTLKPVRKELTSSGGPTKFEIHIVAQFDNHNSQVWRVSWNITGTVLASSGDDG
CVRLWK
ANYMDNWKCTGILKGNGSPVNGSSQQGTSNPSLGSTIPSLQNSLNGSSAGRKHS
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport ISG15 antiviral mechanism
mTOR signaling pathway Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Amyotrophic lateral sclerosis Transport of the SLBP independent Mature mRNA
  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
  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
  SUMOylation of DNA replication 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
SCHIZOPHRENIA — GWAS catalog 31374203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Tooth agenesis Uncertain significance ClinVar
Disgenet
—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Schizophrenia Schizophrenia GWASCAT_DG 31374203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations