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Protein

Zinc finger protein 408

Gene

ZNF408

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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: UniProtKB-KW
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175213-MONOMER.

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

HGNCiHGNC:20041. ZNF408.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs536561101dbSNPEnsembl.1
Natural variantiVAR_074613455H → Y in EVR6; severely decreased localization to the nucleus. 1 PublicationCorresponds to variant rs373273223dbSNPEnsembl.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 rs781192528dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi79797.
MalaCardsiZNF408.
MIMi616468. phenotype.
616469. phenotype.
OpenTargetsiENSG00000175213.
Orphaneti891. Familial exudative vitreoretinopathy.
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.

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.
CleanExiHS_ZNF408.
GenevisibleiQ9H9D4. HS.

Organism-specific databases

HPAiHPA017892.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself7EBI-347633,EBI-347633
CALCOCO2Q131373EBI-347633,EBI-739580
CEP70Q8NHQ18EBI-347633,EBI-739624
EXOSC2Q138683EBI-347633,EBI-301735
FHL2Q141923EBI-347633,EBI-701903
GPATCH2LQ9NWQ43EBI-347633,EBI-5666657
HNRNPKP61978-24EBI-347633,EBI-7060731
KHDRBS3O755253EBI-347633,EBI-722504
LDOC1O957513EBI-347633,EBI-740738
LSM2Q9Y3334EBI-347633,EBI-347416
MDFIQ997505EBI-347633,EBI-724076
PDE4DIPQ5VU433EBI-347633,EBI-1105124
THAP1Q9NVV95EBI-347633,EBI-741515
TRIM41Q8WV444EBI-347633,EBI-725997
ZBTB48P100744EBI-347633,EBI-744864
ZBTB8AQ96BR93EBI-347633,EBI-742740
ZNF330Q9Y3S23EBI-347633,EBI-373456
ZNF792Q3KQV37EBI-347633,EBI-10240849

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi122894. 90 interactors.
IntActiQ9H9D4. 65 interactors.
MINTiMINT-1032881.
STRINGi9606.ENSP00000309606.

Structurei

3D structure databases

ProteinModelPortaliQ9H9D4.
SMRiQ9H9D4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 10 C2H2-type zinc fingers.PROSITE-ProRule annotation

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.
GeneTreeiENSGT00730000111301.
HOGENOMiHOG000231441.
HOVERGENiHBG079382.
InParanoidiQ9H9D4.
OMAiQCPPRAK.
OrthoDBiEOG091G02KC.
PhylomeDBiQ9H9D4.
TreeFamiTF331495.

Family and domain databases

Gene3Di3.30.160.60. 10 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF13912. zf-C2H2_6. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 10 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.
[Graphical view]

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 rs536561101dbSNPEnsembl.1
Natural variantiVAR_052823337R → P.Corresponds to variant rs36017347dbSNPEnsembl.1
Natural variantiVAR_074613455H → Y in EVR6; severely decreased localization to the nucleus. 1 PublicationCorresponds to variant rs373273223dbSNPEnsembl.1
Natural variantiVAR_074614492G → R.1 PublicationCorresponds to variant rs561740128dbSNPEnsembl.1
Natural variantiVAR_074615541R → C in RP72; decreased localization to the nucleus. 1 PublicationCorresponds to variant rs781192528dbSNPEnsembl.1
Natural variantiVAR_074616583Q → K.1 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

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. 90 interactors.
IntActiQ9H9D4. 65 interactors.
MINTiMINT-1032881.
STRINGi9606.ENSP00000309606.

PTM databases

iPTMnetiQ9H9D4.
PhosphoSitePlusiQ9H9D4.

Polymorphism and mutation databases

BioMutaiZNF408.
DMDMi17368963.

Proteomic databases

EPDiQ9H9D4.
MaxQBiQ9H9D4.
PaxDbiQ9H9D4.
PeptideAtlasiQ9H9D4.
PRIDEiQ9H9D4.

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.
GeneCardsiZNF408.
HGNCiHGNC:20041. ZNF408.
HPAiHPA017892.
MalaCardsiZNF408.
MIMi616454. gene.
616468. phenotype.
616469. phenotype.
neXtProtiNX_Q9H9D4.
OpenTargetsiENSG00000175213.
Orphaneti891. Familial exudative vitreoretinopathy.
PharmGKBiPA134936136.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00730000111301.
HOGENOMiHOG000231441.
HOVERGENiHBG079382.
InParanoidiQ9H9D4.
OMAiQCPPRAK.
OrthoDBiEOG091G02KC.
PhylomeDBiQ9H9D4.
TreeFamiTF331495.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175213-MONOMER.

Miscellaneous databases

ChiTaRSiZNF408. human.
GenomeRNAii79797.
PROiQ9H9D4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175213.
CleanExiHS_ZNF408.
GenevisibleiQ9H9D4. HS.

Family and domain databases

Gene3Di3.30.160.60. 10 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF13912. zf-C2H2_6. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 10 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN408_HUMAN
AccessioniPrimary (citable) accession number: Q9H9D4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 143 of the entry and version 1 of the sequence. [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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.