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This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
HNRNPC (Heterogeneous Nuclear Ribonucleoprotein C) is a Protein Coding gene. Diseases associated with HNRNPC include Mixed Connective Tissue Disease and Oculopharyngeal Muscular Dystrophy. Among its related pathways are Telomere Extension by Telomerase and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is HNRNPCL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA,NAS | 9731529 |
GO:0003730 | mRNA 3'-UTR binding | IDA | 16010978 |
GO:0005515 | protein binding | IPI | 11546873 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | HDA | 16217013 |
GO:0005576 | extracellular region | HDA | 27068509 |
GO:0005634 | nucleus | IBA,IDA | 11687588 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005681 | spliceosomal complex | IDA | 9731529 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Metabolism of proteins | ||
3 | SUMOylation |
.95
|
|
4 | Chromatin Regulation / Acetylation | ||
5 | Translational Control |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | TAS | 3110598 |
GO:0016070 | RNA metabolic process | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP16: |
ExUns: | 12b | · | 12c | · | 12d | · | 12e | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: | |||||||||||
SP12: | |||||||||||
SP13: | |||||||||||
SP14: | |||||||||||
SP15: | |||||||||||
SP16: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HNRNPC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HNRPC 31 |
|
OneToMany | |
LOC510852 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | LOC475399 30 |
|
||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Hnrnpc 30 17 |
|
||
Ralyl 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Hnrnpc 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | LOC397793 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.6109 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:55733 31 |
|
ManyToMany | |
hnrnpc 31 |
|
ManyToMany | |||
zgc55733 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3917 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42458 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1560508 | CNV | insertion | 17803354 |
esv2656744 | CNV | deletion | 23128226 |
esv2748453 | CNV | deletion | 23290073 |
esv3335931 | CNV | insertion | 20981092 |
esv3633707 | CNV | loss | 21293372 |
nsv1113621 | CNV | deletion | 24896259 |
nsv509527 | CNV | insertion | 20534489 |
nsv974313 | CNV | duplication | 23825009 |
nsv983803 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mixed connective tissue disease |
|
|
oculopharyngeal muscular dystrophy |
|
|
multisystem proteinopathy |
|
|
endometrial stromal tumor |
|
|
spinal muscular atrophy |
|
|