ZNF423 - zinc finger protein 423 Gene
Also Known as OAZ; Roaz; hOAZ; Ebfaz; JBTS19; NPHP14; ZFP423; Zfp104
生物種: Homo sapiens
About ZNF423
This gene has 7 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 2.2), ovary (RPKM 1.9) and 23 other tissues.
Summary
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
ZNF423 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001271620.2 | NP_001258549.1 | zinc finger protein 423 isoform 2 |
| NM_001330533.2 | NP_001317462.1 | zinc finger protein 423 isoform 3 |
| NM_001379286.1 | NP_001366215.1 | zinc finger protein 423 isoform 4 |
| NM_015069.5 | NP_055884.2 | zinc finger protein 423 isoform 1 |
ZNF423 Protein Structure
zf-C2H2_6: C2H2-type zinc finger (66 - 91)
zf-C2H2: Zinc finger, C2H2 type (138 - 160)
zf-H2C2_2: Zinc-finger double domain (182 - 204)
zf-H2C2_2: Zinc-finger double domain (208 - 233)
zf-C2H2_4: C2H2-type zinc finger (264 - 286)
zf-C2H2_4: C2H2-type zinc finger (409 - 433)
zf-C2H2: Zinc finger, C2H2 type (480 - 503)
zf-C2H2_6: C2H2-type zinc finger (517 - 542)
zf-C2H2_4: C2H2-type zinc finger (632 - 654)
zf-C2H2_6: C2H2-type zinc finger (664 - 684)
zf-C2H2: Zinc finger, C2H2 type (692 - 713)
zf-C2H2_4: C2H2-type zinc finger (720 - 743)
zf-C2H2_4: C2H2-type zinc finger (781 - 803)
zf-C2H2_6: C2H2-type zinc finger (807 - 830)
zf-H2C2_2: Zinc-finger double domain (944 - 968)
zf-C2H2_6: C2H2-type zinc finger (1063 - 1079)
zf-C2H2: Zinc finger, C2H2 type (1121 - 1143)
zf-C2H2_4: C2H2-type zinc finger (1168 - 1190)
zf-C2H2_6: C2H2-type zinc finger (1198 - 1209)
zf-C2H2_4: C2H2-type zinc finger (1229 - 1252)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1284 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
zinc finger protein 423 |
|
ZNF423 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
ZNF423 | Q2M1K9 | CEP290 | Homo sapiens | O15078 | 22863007 | |
|
Intra
|
ZNF423 | Q2M1K9 | CEP290 | Homo sapiens | O15078 | 22863007 | |
|
Intra
|
ZNF423 | Q2M1K9 | PARP1 | Homo sapiens | P09874 | 22863007 | |
|
Intra
|
ZNF423 | Q2M1K9 | RARA | Homo sapiens | P10276 | 19345331 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Nephronophthisis 14 |
|
|
| Arima Syndrome |
|
|
| Infantile Nephronophthisis |
|
|
| Nephronophthisis |
|
|
| Nephronophthisis 20 |
|
|
| Situs Inversus |
|
|
| Polycystic Kidney Disease |
|
|
| Joubert Syndrome 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | ZNF423 | RGD | RGD:621664 |
| Mus musculus | ZNF423 | MGD | MGI:1891217 |
| Canis familiaris | ZNF423 | VGNC | VGNC:48723 |
| Bos taurus | ZNF423 | VGNC | VGNC:37273 |
| Macaca mulatta | ZNF423 | VGNC | VGNC:99636 |
| Others | ZNF423 | NCBI |