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Entry version 173 (07 Oct 2020)
Sequence version 1 (01 Mar 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H9D4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein 408
Alternative name(s):
PR domain zinc finger protein 17
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZNF408
Synonyms:PFM14, PRDM17
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000175213.2

Human Gene Nomenclature Database

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HGNCi
HGNC:20041, ZNF408

Online Mendelian Inheritance in Man (OMIM)

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MIMi
616454, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9H9D4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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

DisGeNET

More...
DisGeNETi
79797

MalaCards human disease database

More...
MalaCardsi
ZNF408
MIMi616468, phenotype
616469, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000175213

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
891, Familial exudative vitreoretinopathy
791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134936136

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H9D4, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ZNF408

Domain mapping of disease mutations (DMDM)

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DMDMi
17368963

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000475691 – 720Zinc finger protein 408Add BLAST720

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei322PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H9D4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H9D4

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H9D4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H9D4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H9D4

PeptideAtlas

More...
PeptideAtlasi
Q9H9D4

PRoteomics IDEntifications database

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PRIDEi
Q9H9D4

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81314

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H9D4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H9D4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000175213, Expressed in tendon of biceps brachii and 199 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H9D4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000175213, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9H9D4
With#Exp.IntAct
AEBP2 - isoform 2 [Q6ZN18-2]3EBI-347633,EBI-10255023
AEN - isoform 2 [Q8WTP8-2]3EBI-347633,EBI-12119298
APOBEC3C [Q9NRW3]3EBI-347633,EBI-1044593
BAHD1 [Q8TBE0]3EBI-347633,EBI-742750
CALCOCO2 [Q13137]4EBI-347633,EBI-739580
CEP70 [Q8NHQ1]9EBI-347633,EBI-739624
CYSRT1 [A8MQ03]3EBI-347633,EBI-3867333
DVL3 [Q92997]4EBI-347633,EBI-739789
EXOSC2 [Q13868]3EBI-347633,EBI-301735
FHL2 [Q14192]3EBI-347633,EBI-701903
FHL5 [Q5TD97]3EBI-347633,EBI-750641
FSD2 [A1L4K1]3EBI-347633,EBI-5661036
GPATCH2L [Q9NWQ4]3EBI-347633,EBI-5666657
HNRNPK - isoform 2 [P61978-2]3EBI-347633,EBI-7060731
KCTD9 [Q7L273]3EBI-347633,EBI-4397613
KHDRBS3 [O75525]4EBI-347633,EBI-722504
KRT40 [Q6A162]3EBI-347633,EBI-10171697
KRTAP1-1 [Q07627]3EBI-347633,EBI-11959885
KRTAP10-7 [P60409]3EBI-347633,EBI-10172290
KRTAP10-8 [P60410]3EBI-347633,EBI-10171774
KRTAP12-2 [P59991]3EBI-347633,EBI-10176379
KRTAP12-3 [P60328]3EBI-347633,EBI-11953334
KRTAP5-9 [P26371]3EBI-347633,EBI-3958099
LDOC1 [O95751]3EBI-347633,EBI-740738
LSM2 [Q9Y333]4EBI-347633,EBI-347416
LZTS2 [Q9BRK4]4EBI-347633,EBI-741037
MDFI [Q99750]6EBI-347633,EBI-724076
MID2 - isoform 2 [Q9UJV3-2]3EBI-347633,EBI-10172526
MRRF [Q96E11]3EBI-347633,EBI-2855755
MTUS2 - isoform 2 [Q5JR59-3]3EBI-347633,EBI-11522433
NOTCH2NLC [P0DPK4]3EBI-347633,EBI-22310682
PDE4DIP [Q5VU43]3EBI-347633,EBI-1105124
PICK1 [Q9NRD5]3EBI-347633,EBI-79165
PNMA2 [Q9UL42]3EBI-347633,EBI-302355
PRPF31 [Q8WWY3]3EBI-347633,EBI-1567797
PSTPIP1 [O43586]3EBI-347633,EBI-1050964
RALY [Q53GL6]3EBI-347633,EBI-9512693
RBM10 [P98175]3EBI-347633,EBI-721525
RBMY1J [Q15415]3EBI-347633,EBI-8642021
SPRED1 [Q7Z699]3EBI-347633,EBI-5235340
SSX2IP [Q9Y2D8]3EBI-347633,EBI-2212028
THAP1 [Q9NVV9]4EBI-347633,EBI-741515
TLE5 - isoform 2 [Q08117-2]3EBI-347633,EBI-11741437
TRIM23 [P36406]3EBI-347633,EBI-740098
TRIM41 [Q8WV44]4EBI-347633,EBI-725997
UBE2I [Q7KZS0]3EBI-347633,EBI-10180829
USP20 [A0A024R8A9]3EBI-347633,EBI-14096082
ZBTB26 [Q9HCK0]3EBI-347633,EBI-3918996
ZBTB48 [P10074]3EBI-347633,EBI-744864
ZBTB8A [Q96BR9]4EBI-347633,EBI-742740
ZC4H2 [Q9NQZ6]3EBI-347633,EBI-747993
ZNF317 [Q96PQ6]3EBI-347633,EBI-1210473
ZNF330 [Q9Y3S2]4EBI-347633,EBI-373456
itself8EBI-347633,EBI-347633
ZNF473 [Q8WTR7]3EBI-347633,EBI-751409
ZNF526 [Q8TF50]3EBI-347633,EBI-11035148
ZNF764 [Q96H86]3EBI-347633,EBI-745775
ZNF792 [Q3KQV3]6EBI-347633,EBI-10240849
ZNF837 [Q96EG3]3EBI-347633,EBI-11962574
ZRANB1 [Q9UGI0]3EBI-347633,EBI-527853

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
122894, 141 interactors

Protein interaction database and analysis system

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IntActi
Q9H9D4, 126 interactors

Molecular INTeraction database

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MINTi
Q9H9D4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000309606

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H9D4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9H9D4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00930000151062

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002678_51_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H9D4

Identification of Orthologs from Complete Genome Data

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OMAi
HRPEAPC

Database of Orthologous Groups

More...
OrthoDBi
1318335at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H9D4

TreeFam database of animal gene trees

More...
TreeFami
TF331495

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096, zf-C2H2, 7 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355, ZnF_C2H2, 10 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667, SSF57667, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 10 hits
PS50157, ZINC_FINGER_C2H2_2, 10 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:rs36017347EnsemblClinVar.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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF346626 mRNA Translation: AAK29075.1
AK022889 mRNA Translation: BAB14295.1
BC013355 mRNA Translation: AAH13355.1
BC015708 mRNA Translation: AAH15708.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7923.1

NCBI Reference Sequences

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RefSeqi
NP_001171680.1, NM_001184751.1
NP_079017.1, NM_024741.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311764; ENSP00000309606; ENSG00000175213

Database of genes from NCBI RefSeq genomes

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GeneIDi
79797

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79797

UCSC genome browser

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UCSCi
uc001nde.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ9H9D4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122894, 141 interactors
IntActiQ9H9D4, 126 interactors
MINTiQ9H9D4
STRINGi9606.ENSP00000309606

PTM databases

iPTMnetiQ9H9D4
PhosphoSitePlusiQ9H9D4

Polymorphism and mutation databases

BioMutaiZNF408
DMDMi17368963

Proteomic databases

EPDiQ9H9D4
jPOSTiQ9H9D4
MassIVEiQ9H9D4
MaxQBiQ9H9D4
PaxDbiQ9H9D4
PeptideAtlasiQ9H9D4
PRIDEiQ9H9D4
ProteomicsDBi81314

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q9H9D4, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

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Antibodypediai
13426, 172 antibodies

The DNASU plasmid repository

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DNASUi
79797

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79797
DisGeNETi79797
EuPathDBiHostDB:ENSG00000175213.2

GeneCards: human genes, protein and diseases

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GeneCardsi
ZNF408
HGNCiHGNC:20041, ZNF408
HPAiENSG00000175213, Low tissue specificity
MalaCardsiZNF408
MIMi616454, gene
616468, phenotype
616469, phenotype
neXtProtiNX_Q9H9D4
OpenTargetsiENSG00000175213
Orphaneti891, Familial exudative vitreoretinopathy
791, Retinitis pigmentosa
PharmGKBiPA134936136

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00930000151062
HOGENOMiCLU_002678_51_0_1
InParanoidiQ9H9D4
OMAiHRPEAPC
OrthoDBi1318335at2759
PhylomeDBiQ9H9D4
TreeFamiTF331495

Enzyme and pathway databases

PathwayCommonsiQ9H9D4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
79797, 16 hits in 892 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ZNF408, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
79797
PharosiQ9H9D4, Tdark

Protein Ontology

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PROi
PR:Q9H9D4
RNActiQ9H9D4, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175213, Expressed in tendon of biceps brachii and 199 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZN408_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H9D4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: March 1, 2001
Last modified: October 7, 2020
This is version 173 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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