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Protein

Zinc finger protein 408

Gene

ZNF408

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri353 – 375C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri381 – 403C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri409 – 431C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri437 – 459C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri468 – 490C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri496 – 518C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri524 – 546C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri551 – 573C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri579 – 601C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri607 – 629C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

  • DNA binding Source: GO_Central
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 408
Alternative name(s):
PR domain zinc finger protein 17
Gene namesi
Name:ZNF408
Synonyms:PFM14, PRDM17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000175213.2
HGNCiHGNC:20041 ZNF408
MIMi616454 gene
neXtProtiNX_Q9H9D4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Vitreoretinopathy, exudative 6 (EVR6)1 Publication
The disease is caused by mutations 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.
See also OMIM:616468
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074612126S → N in EVR6; unknown pathological significance; does not affect localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs536561101EnsemblClinVar.1
Natural variantiVAR_074613455H → 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 mutations 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.
See also OMIM:616469
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074615541R → C in RP72; decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs781192528EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi79797
MalaCardsiZNF408
MIMi616468 phenotype
616469 phenotype
OpenTargetsiENSG00000175213
Orphaneti891 Familial exudative vitreoretinopathy
791 Retinitis pigmentosa
PharmGKBiPA134936136

Polymorphism and mutation databases

BioMutaiZNF408
DMDMi17368963

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000475691 – 720Zinc finger protein 408Add BLAST720

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei322PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H9D4
MaxQBiQ9H9D4
PaxDbiQ9H9D4
PeptideAtlasiQ9H9D4
PRIDEiQ9H9D4
ProteomicsDBi81314

PTM databases

iPTMnetiQ9H9D4
PhosphoSitePlusiQ9H9D4

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

BgeeiENSG00000175213 Expressed in 185 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_ZNF408
GenevisibleiQ9H9D4 HS

Organism-specific databases

HPAiHPA017892

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122894, 96 interactors
IntActiQ9H9D4, 77 interactors
MINTiQ9H9D4
STRINGi9606.ENSP00000309606

Structurei

3D structure databases

ProteinModelPortaliQ9H9D4
SMRiQ9H9D4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri353 – 375C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri381 – 403C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri409 – 431C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri437 – 459C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri468 – 490C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri496 – 518C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri524 – 546C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri551 – 573C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri579 – 601C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri607 – 629C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000151062
HOGENOMiHOG000231441
HOVERGENiHBG079382
InParanoidiQ9H9D4
OMAiQCPPRAK
OrthoDBiEOG091G02KC
PhylomeDBiQ9H9D4
TreeFamiTF331495

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 7 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 10 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits

Sequencei

Sequence statusi: Complete.

Q9H9D4-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:720
Mass (Da):78,439
Last modified:March 1, 2001 - v1
Checksum:i0D3CDA7572D17721
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074612126S → N in EVR6; unknown pathological significance; does not affect localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs536561101EnsemblClinVar.1
Natural variantiVAR_052823337R → P. Corresponds to variant dbSNP:rs36017347Ensembl.1
Natural variantiVAR_074613455H → Y in EVR6; severely decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs373273223EnsemblClinVar.1
Natural variantiVAR_074614492G → R1 PublicationCorresponds to variant dbSNP:rs561740128Ensembl.1
Natural variantiVAR_074615541R → C in RP72; decreased localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs781192528EnsemblClinVar.1
Natural variantiVAR_074616583Q → K1 Publication1

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
CCDSiCCDS7923.1
RefSeqiNP_001171680.1, NM_001184751.1
NP_079017.1, NM_024741.2
UniGeneiHs.656931

Genome annotation databases

EnsembliENST00000311764; ENSP00000309606; ENSG00000175213
GeneIDi79797
KEGGihsa:79797
UCSCiuc001nde.3 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS7923.1
RefSeqiNP_001171680.1, NM_001184751.1
NP_079017.1, NM_024741.2
UniGeneiHs.656931

3D structure databases

ProteinModelPortaliQ9H9D4
SMRiQ9H9D4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122894, 96 interactors
IntActiQ9H9D4, 77 interactors
MINTiQ9H9D4
STRINGi9606.ENSP00000309606

PTM databases

iPTMnetiQ9H9D4
PhosphoSitePlusiQ9H9D4

Polymorphism and mutation databases

BioMutaiZNF408
DMDMi17368963

Proteomic databases

EPDiQ9H9D4
MaxQBiQ9H9D4
PaxDbiQ9H9D4
PeptideAtlasiQ9H9D4
PRIDEiQ9H9D4
ProteomicsDBi81314

Protocols and materials databases

DNASUi79797
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311764; ENSP00000309606; ENSG00000175213
GeneIDi79797
KEGGihsa:79797
UCSCiuc001nde.3 human

Organism-specific databases

CTDi79797
DisGeNETi79797
EuPathDBiHostDB:ENSG00000175213.2
GeneCardsiZNF408
HGNCiHGNC:20041 ZNF408
HPAiHPA017892
MalaCardsiZNF408
MIMi616454 gene
616468 phenotype
616469 phenotype
neXtProtiNX_Q9H9D4
OpenTargetsiENSG00000175213
Orphaneti891 Familial exudative vitreoretinopathy
791 Retinitis pigmentosa
PharmGKBiPA134936136
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000151062
HOGENOMiHOG000231441
HOVERGENiHBG079382
InParanoidiQ9H9D4
OMAiQCPPRAK
OrthoDBiEOG091G02KC
PhylomeDBiQ9H9D4
TreeFamiTF331495

Miscellaneous databases

ChiTaRSiZNF408 human
GenomeRNAii79797
PROiPR:Q9H9D4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175213 Expressed in 185 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_ZNF408
GenevisibleiQ9H9D4 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 7 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 10 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits
ProtoNetiSearch...

Entry informationi

Entry nameiZN408_HUMAN
AccessioniPrimary (citable) accession number: Q9H9D4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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