Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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81929 |
Gene nameGene Name - the full gene name approved by the HGNC.
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SEH1 like nucleoporin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SEH1L |
SynonymsGene synonyms aliases
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SEC13L, SEH1A, SEH1B, Seh1 |
ChromosomeChromosome number
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18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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18p11.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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
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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 |
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Sequence |
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Sequence length |
360 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
31374203 |
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