UniProtKB - Q9H9D4 (ZN408_HUMAN)
Protein
Zinc finger protein 408
Gene
ZNF408
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in transcriptional regulation.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 353 – 375 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 381 – 403 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 409 – 431 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 437 – 459 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 468 – 490 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 496 – 518 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 524 – 546 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 551 – 573 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 579 – 601 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 607 – 629 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- identical protein binding Source: IntAct
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9H9D4 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein 408Alternative name(s): PR domain zinc finger protein 17 |
Gene namesi | Name:ZNF408 Synonyms:PFM14, PRDM17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20041, ZNF408 |
MIMi | 616454, gene |
neXtProti | NX_Q9H9D4 |
VEuPathDBi | HostDB:ENSG00000175213.2 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Vitreoretinopathy, exudative 6 (EVR6)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074612 | 126 | S → N in EVR6; unknown pathological significance; does not affect localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs536561101EnsemblClinVar. | 1 | |
Natural variantiVAR_074613 | 455 | H → Y in EVR6; severely decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs373273223EnsemblClinVar. | 1 |
Retinitis pigmentosa 72 (RP72)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074615 | 541 | R → C in RP72; decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs781192528EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 79797 |
MalaCardsi | ZNF408 |
MIMi | 616468, phenotype 616469, phenotype |
OpenTargetsi | ENSG00000175213 |
Orphaneti | 891, Familial exudative vitreoretinopathy 791, Retinitis pigmentosa |
PharmGKBi | PA134936136 |
Miscellaneous databases
Pharosi | Q9H9D4, Tdark |
Genetic variation databases
BioMutai | ZNF408 |
DMDMi | 17368963 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047569 | 1 – 720 | Zinc finger protein 408Add BLAST | 720 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 322 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9H9D4 |
jPOSTi | Q9H9D4 |
MassIVEi | Q9H9D4 |
MaxQBi | Q9H9D4 |
PaxDbi | Q9H9D4 |
PeptideAtlasi | Q9H9D4 |
PRIDEi | Q9H9D4 |
ProteomicsDBi | 81314 |
PTM databases
iPTMneti | Q9H9D4 |
PhosphoSitePlusi | Q9H9D4 |
Expressioni
Tissue specificityi
Highest expression is observed in adult retina; abundantly expressed in the fetal eye (PubMed:23716654). In the retina, it is detected in the outer nuclear layer, especially cone and rod photoreceptor cells, ganglion cell layer and both outer and inner plexiform layers (at protein level) (PubMed:25882705). Expressed in retinal blood vessels (at protein level) (PubMed:25882705).2 Publications
Gene expression databases
Bgeei | ENSG00000175213, Expressed in tendon of biceps brachii and 199 other tissues |
Genevisiblei | Q9H9D4, HS |
Organism-specific databases
HPAi | ENSG00000175213, Low tissue specificity |
Interactioni
Binary interactionsi
Q9H9D4
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 122894, 148 interactors |
IntActi | Q9H9D4, 126 interactors |
MINTi | Q9H9D4 |
STRINGi | 9606.ENSP00000309606 |
Miscellaneous databases
RNActi | Q9H9D4, protein |
Family & Domainsi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 353 – 375 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 381 – 403 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 409 – 431 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 437 – 459 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 468 – 490 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 496 – 518 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 524 – 546 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 551 – 573 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 579 – 601 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 607 – 629 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00930000151062 |
HOGENOMi | CLU_002678_51_0_1 |
InParanoidi | Q9H9D4 |
OMAi | HRPEAPC |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9H9D4 |
TreeFami | TF331495 |
Family and domain databases
CDDi | cd10520, PR-SET_PRDM17, 1 hit |
InterProi | View protein in InterPro IPR044412, PRDM17_PR-SET IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 7 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 10 hits |
SUPFAMi | SSF57667, SSF57667, 5 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 10 hits PS50157, ZINC_FINGER_C2H2_2, 10 hits |
i Sequence
Sequence statusi: Complete.
Q9H9D4-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEEAEELLLE GKKALQLARE PRLGLDLGWN PSGEGCTQGL KDVPPEPTRD
60 70 80 90 100
ILALKSLPRG LALGPSLAKE QRLGVWCVGD PLQPGLLWGP LEEESASKEK
110 120 130 140 150
GEGVKPRQEE NLSLGPWGDV CACEQSSGWT SLVQRGRLES EGNVAPVRIS
160 170 180 190 200
ERLHLQVYQL VLPGSELLLW PQPSSEGPSL TQPGLDKEAA VAVVTEVESA
210 220 230 240 250
VQQEVASPGE DAAEPCIDPG SQSPSGIQAE NMVSPGLKFP TQDRISKDSQ
260 270 280 290 300
PLGPLLQDGD VDEECPAQAQ MPPELQSNSA TQQDPDGSGA SFSSSARGTQ
310 320 330 340 350
PHGYLAKKLH SPSDQCPPRA KTPEPGAQQS GFPTLSRSPP GPAGSSPKQG
360 370 380 390 400
RRYRCGECGK AFLQLCHLKK HAFVHTGHKP FLCTECGKSY SSEESFKAHM
410 420 430 440 450
LGHRGVRPFP CPQCDKAYGT QRDLKEHQVV HSGARPFACD QCGKAFARRP
460 470 480 490 500
SLRLHRKTHQ VPAAPAPCPC PVCGRPLANQ GSLRNHMRLH TGEKPFLCPH
510 520 530 540 550
CGRAFRQRGN LRGHLRLHTG ERPYRCPHCA DAFPQLPELR RHLISHTGEA
560 570 580 590 600
HLCPVCGKAL RDPHTLRAHE RLHSGERPFP CPQCGRAYTL ATKLRRHLKS
610 620 630 640 650
HLEDKPYRCP TCGMGYTLPQ SLRRHQLSHR PEAPCSPPSV PSAASEPTVV
660 670 680 690 700
LLQAEPQLLD THREEEVSPA RDVVEVTISE SQEKCFVVPE EPDAAPSLVL
710 720
IHKDMGLGAW AEVVEVEMGT
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074612 | 126 | S → N in EVR6; unknown pathological significance; does not affect localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs536561101EnsemblClinVar. | 1 | |
Natural variantiVAR_052823 | 337 | R → P. Corresponds to variant dbSNP:rs36017347EnsemblClinVar. | 1 | |
Natural variantiVAR_074613 | 455 | H → Y in EVR6; severely decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs373273223EnsemblClinVar. | 1 | |
Natural variantiVAR_074614 | 492 | G → R1 PublicationCorresponds to variant dbSNP:rs561740128Ensembl. | 1 | |
Natural variantiVAR_074615 | 541 | R → C in RP72; decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs781192528EnsemblClinVar. | 1 | |
Natural variantiVAR_074616 | 583 | Q → K1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF346626 mRNA Translation: AAK29075.1 AK022889 mRNA Translation: BAB14295.1 BC013355 mRNA Translation: AAH13355.1 BC015708 mRNA Translation: AAH15708.1 |
CCDSi | CCDS7923.1 |
RefSeqi | NP_001171680.1, NM_001184751.1 NP_079017.1, NM_024741.2 |
Genome annotation databases
Ensembli | ENST00000311764; ENSP00000309606; ENSG00000175213 |
GeneIDi | 79797 |
KEGGi | hsa:79797 |
UCSCi | uc001nde.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF346626 mRNA Translation: AAK29075.1 AK022889 mRNA Translation: BAB14295.1 BC013355 mRNA Translation: AAH13355.1 BC015708 mRNA Translation: AAH15708.1 |
CCDSi | CCDS7923.1 |
RefSeqi | NP_001171680.1, NM_001184751.1 NP_079017.1, NM_024741.2 |
3D structure databases
SMRi | Q9H9D4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122894, 148 interactors |
IntActi | Q9H9D4, 126 interactors |
MINTi | Q9H9D4 |
STRINGi | 9606.ENSP00000309606 |
PTM databases
iPTMneti | Q9H9D4 |
PhosphoSitePlusi | Q9H9D4 |
Genetic variation databases
BioMutai | ZNF408 |
DMDMi | 17368963 |
Proteomic databases
EPDi | Q9H9D4 |
jPOSTi | Q9H9D4 |
MassIVEi | Q9H9D4 |
MaxQBi | Q9H9D4 |
PaxDbi | Q9H9D4 |
PeptideAtlasi | Q9H9D4 |
PRIDEi | Q9H9D4 |
ProteomicsDBi | 81314 |
Protocols and materials databases
ABCDi | Q9H9D4, 1 sequenced antibody |
Antibodypediai | 13426, 179 antibodies |
DNASUi | 79797 |
Genome annotation databases
Ensembli | ENST00000311764; ENSP00000309606; ENSG00000175213 |
GeneIDi | 79797 |
KEGGi | hsa:79797 |
UCSCi | uc001nde.3, human |
Organism-specific databases
CTDi | 79797 |
DisGeNETi | 79797 |
GeneCardsi | ZNF408 |
HGNCi | HGNC:20041, ZNF408 |
HPAi | ENSG00000175213, Low tissue specificity |
MalaCardsi | ZNF408 |
MIMi | 616454, gene 616468, phenotype 616469, phenotype |
neXtProti | NX_Q9H9D4 |
OpenTargetsi | ENSG00000175213 |
Orphaneti | 891, Familial exudative vitreoretinopathy 791, Retinitis pigmentosa |
PharmGKBi | PA134936136 |
VEuPathDBi | HostDB:ENSG00000175213.2 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00930000151062 |
HOGENOMi | CLU_002678_51_0_1 |
InParanoidi | Q9H9D4 |
OMAi | HRPEAPC |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9H9D4 |
TreeFami | TF331495 |
Enzyme and pathway databases
PathwayCommonsi | Q9H9D4 |
Miscellaneous databases
BioGRID-ORCSi | 79797, 18 hits in 1017 CRISPR screens |
ChiTaRSi | ZNF408, human |
GenomeRNAii | 79797 |
Pharosi | Q9H9D4, Tdark |
PROi | PR:Q9H9D4 |
RNActi | Q9H9D4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000175213, Expressed in tendon of biceps brachii and 199 other tissues |
Genevisiblei | Q9H9D4, HS |
Family and domain databases
CDDi | cd10520, PR-SET_PRDM17, 1 hit |
InterProi | View protein in InterPro IPR044412, PRDM17_PR-SET IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 7 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 10 hits |
SUPFAMi | SSF57667, SSF57667, 5 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 10 hits PS50157, ZINC_FINGER_C2H2_2, 10 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZN408_HUMAN | |
Accessioni | Q9H9D4Primary (citable) accession number: Q9H9D4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 16, 2001 |
Last sequence update: | March 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 176 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot