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This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CLP1 (Cleavage And Polyadenylation Factor I Subunit 1) is a Protein Coding gene. Diseases associated with CLP1 include Pontocerebellar Hypoplasia, Type 10 and Pontocerebellar Hypoplasia. Among its related pathways are Cleavage of Growing Transcript in the Termination Region and tRNA processing. Gene Ontology (GO) annotations related to this gene include ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity and ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity. An important paralog of this gene is NOL9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005524 | ATP binding | TAS | 8896421 |
GO:0016301 | kinase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0046404 | ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity | IEA | -- |
GO:0051733 | polydeoxyribonucleotide kinase activity | IEA,IDA | 17495927 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000214 | tRNA-intron endonuclease complex | IDA,IEA | 17495927 |
GO:0005634 | nucleus | IDA,IBA | 24766810 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005849 | mRNA cleavage factor complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
2 | Cleavage of Growing Transcript in the Termination Region | ||
3 | Processing of Capped Intronless Pre-mRNA | ||
4 | tRNA processing |
.55
|
|
5 | mRNA surveillance pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006369 | termination of RNA polymerase II transcription | TAS | -- |
GO:0006378 | mRNA polyadenylation | IBA | 21873635 |
GO:0006388 | tRNA splicing, via endonucleolytic cleavage and ligation | TAS,IBA | -- |
GO:0006397 | mRNA processing | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - | |||||||||||||||
SP3: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
dog (Canis familiaris) |
Mammalia | CLP1 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Clp1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Clp1 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | CLP1 33 32 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CLP1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CLP1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | clp1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CR855307.1 33 |
|
OneToOne | |
LOC565621 32 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | CLP1_ANOGA 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | cbc 33 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | clpf-1 33 32 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CLP1 35 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | CLPS3 32 |
|
||
rice (Oryza sativa) |
Liliopsida | Os02g0217500 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne | |
Cin.15542 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.15542 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555002798 | uncertain-significance, Inborn genetic diseases | 57,660,909(+) | G/A | coding_sequence_variant, missense_variant | |
rs587777616 | likely-pathogenic, Pontocerebellar hypoplasia, type 10, not provided, Pontocerebellar hypoplasia 10 (PCH10) [MIM:615803] | 57,659,895(+) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
rs142476927 | likely-benign, not specified | 57,660,028(+) | G/C | coding_sequence_variant, intron_variant, synonymous_variant | |
rs147951568 | likely-benign, not specified | 57,660,808(+) | T/C | coding_sequence_variant, missense_variant | |
rs1555002441 | likely-benign, not specified | 57,657,849(+) | C/T | 5_prime_UTR_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
pontocerebellar hypoplasia, type 10 |
|
|
pontocerebellar hypoplasia |
|
|