POLR3H (RNA polymerase III subunit H)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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171568 |
Gene nameGene Name - the full gene name approved by the HGNC.
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RNA polymerase III subunit H |
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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POLR3H |
SynonymsGene synonyms aliases
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C25, RPC22.9, RPC8 |
ChromosomeChromosome number
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22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q13.2 |
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 |
Q9Y535 |
Protein name |
DNA-directed RNA polymerase III subunit RPC8 (RNA polymerase III subunit C8) (DNA-directed RNA polymerase III subunit H) (RNA polymerase III subunit 22.9 kDa subunit) (RPC22.9) |
Protein function |
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III) |
PDB |
7A6H
,
7AE1
,
7AE3
,
7AEA
,
7AST
,
7D58
,
7D59
,
7DN3
,
7DU2
,
7FJI
,
7FJJ
,
8ITY
,
8IUE
,
8IUH
,
9FSO
,
9FSP
,
9FSQ
,
9FSR
,
9FSS
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03876 |
SHS2_Rpb7-N |
8 → 64 |
SHS2 domain found in N terminus of Rpb7p/Rpc25p/MJ0397 |
Domain |
PF08292 |
RNA_pol_Rbc25 |
83 → 201 |
RNA polymerase III subunit Rpc25 |
Domain |
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Sequence |
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Sequence length |
204 |
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 |
Cerebellar-retinal degeneration |
INFANTILE CEREBELLAR-RETINAL DEGENERATION |
rs786200924, rs786204828, rs786204829, rs786204830, rs1114167284, rs1601927180, rs1601936467 |
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Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Optic atrophy |
OPTIC ATROPHY 9 |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
46, xx gonadal dysgenesis |
46,XX gonadal dysgenesis |
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46,xx gonadal dysgenesis |
Pure Gonadal Dysgenesis, 46, XX |
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30830215 |
Arachnoid cyst |
Arachnoid Cysts |
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Frontal bossing |
Frontal bossing |
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Gonadal dysgenesis |
Gonadal Dysgenesis, 46,XX |
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30830215 |
Movement disorders |
Movement Disorders |
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22405087, 26992325, 28545339, 25351951 |
Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
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