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ZNF483 (Zinc Finger Protein 483) is a Protein Coding gene. Diseases associated with ZNF483 include Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is ZNF135.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF483 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF483 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF483 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp483 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zkscan16 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZNF483 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115758301 | Likely Benign: not provided | 111,570,132(+) |
G/A NM_001146108.2(PTGR1):c.838C>T (p.Arg280Cys) |
MISSENSE_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665450 | CNV | deletion | 23128226 |
esv2678607 | CNV | deletion | 23128226 |
esv2738936 | CNV | deletion | 23290073 |
esv3545319 | CNV | deletion | 23714750 |
esv3621491 | CNV | loss | 21293372 |
esv3621492 | CNV | loss | 21293372 |
esv4254 | CNV | loss | 18987735 |
esv5602 | CNV | loss | 19470904 |
nsv1054737 | CNV | gain | 25217958 |
nsv478735 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 1 |
|
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