Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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127933 |
Gene nameGene Name - the full gene name approved by the HGNC.
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U2AF homology motif kinase 1 |
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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UHMK1 |
SynonymsGene synonyms aliases
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KIS, KIST, P-CIP2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q23.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought t |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs869312863 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
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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 |
Q8TAS1 |
Protein name |
Serine/threonine-protein kinase Kist (EC 2.7.11.1) (Kinase interacting with stathmin) (PAM COOH-terminal interactor protein 2) (P-CIP2) (U2AF homology motif kinase 1) |
Protein function |
Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069 |
Pkinase |
23 → 304 |
Protein kinase domain |
Domain |
PF00076 |
RRM_1 |
344 → 400 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
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Sequence |
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Sequence length |
419 |
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 |
19747464, 21399567, 16978587, 18414510 |
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