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
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
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 5 40 WD domain, G-beta repeat Repeat
PF00400 WD40 268 306 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  Reactome
  Nucleocytoplasmic transport
mTOR signaling pathway
Amyotrophic lateral sclerosis
  ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Tooth agenesis Uncertain significance rs374718956 RCV000993575