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This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]
ZCCHC8 (Zinc Finger CCHC-Type Containing 8) is a Protein Coding gene. Diseases associated with ZCCHC8 include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 and Pulmonary Fibrosis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA,IDA | 31488579 |
GO:0005515 | protein binding | IPI | 16263084 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 21855801 |
GO:0005654 | nucleoplasm | IDA | 16263084 |
GO:0005681 | spliceosomal complex | IEA | -- |
GO:0005730 | NOT nucleolus | IDA | 21855801 |
GO:0016604 | nuclear body | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | IC | 11991638 |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
GO:0016076 | snRNA catabolic process | ISS | -- |
GO:0034470 | ncRNA processing | IMP | 31488579 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 16a | · | 16b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zcchc8 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZCCHC8 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZCCHC8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZCCHC8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZCCHC8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zcchc8 30 |
|
||
Str.16750 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2647 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zcchc8 30 31 |
|
OneToOne | |
Dr.17330 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4622 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y34D9A.7 31 |
|
OneToMany | |
ZK632.11 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111823200 | Likely Benign: not provided | 122,474,140(-) |
G/A NM_017612.5(ZCCHC8):c.1481C>T (p.Pro494Leu) |
MISSENSE | |
rs116783031 | Benign: not provided | 122,477,836(-) |
C/T NM_017612.5(ZCCHC8):c.1345+5G>A |
INTRON | |
rs1317757765 | Pathogenic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 122,483,508(-) |
G/A NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) |
MISSENSE_VARIANT,INTRON | |
rs139379402 | Benign: not provided | 122,473,634(-) |
T/C NM_017612.5(ZCCHC8):c.1987A>G (p.Met663Val) |
MISSENSE | |
rs150057798 | Likely Benign: not provided | 122,473,979(-) |
G/A NM_017612.5(ZCCHC8):c.1642C>T (p.Pro548Ser) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3630977 | CNV | gain | 21293372 |
nsv1113530 | CNV | deletion | 24896259 |
nsv1134272 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 |
|
|
pulmonary fibrosis |
|
|