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UniProtKB - Q2M1K9 (ZN423_HUMAN)

Entry version 142 (11 Dec 2019)
Sequence version 1 (21 Feb 2006)
Previous versions | rss
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Protein

Zinc finger protein 423

Gene

ZNF423

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

Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 fingeri67 – 93C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST27
Zinc fingeri138 – 160C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri166 – 188C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri194 – 216C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri222 – 244C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri263 – 286C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri295 – 318C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri323 – 345C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri409 – 433C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri441 – 464C2H2-type 10PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri480 – 503C2H2-type 11PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri517 – 540C2H2-type 12PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri563 – 588C2H2-type 13; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri632 – 654C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 15PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri692 – 715C2H2-type 16PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri720 – 743C2H2-type 17PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri750 – 773C2H2-type 18PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri781 – 803C2H2-type 19PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri807 – 830C2H2-type 20PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri886 – 908C2H2-type 21; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri930 – 952C2H2-type 22PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri959 – 981C2H2-type 23PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1020 – 1042C2H2-type 24PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1064 – 1082C2H2-type 25; degeneratePROSITE-ProRule annotationAdd BLAST19
Zinc fingeri1120 – 1143C2H2-type 26PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1168 – 1190C2H2-type 27PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1198 – 1220C2H2-type 28PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1229 – 1252C2H2-type 29PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1259 – 1282C2H2-type 30PROSITE-ProRule annotationAdd BLAST24

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionActivator, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q2M1K9

<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_and_taxonomy_section">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 423
Alternative name(s):
Olf1/EBF-associated zinc finger protein
Short name:
hOAZ
Smad- and Olf-interacting zinc finger protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ZNF423
Synonyms:KIAA0760, NPHP14, OAZ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000102935.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:16762 ZNF423

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604557 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q2M1K9

<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

Nephronophthisis 14 (NPHP14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
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_068501913P → L in NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus. 1 PublicationCorresponds to variant dbSNP:rs200585917Ensembl.1
Joubert syndrome 19 (JBTS19)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0685021277H → Y in JBTS19. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi420N → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-426; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi426E → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi452T → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-458; A-491; A-497; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi458E → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-491; A-497; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi491D → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-497; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi497E → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-528; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi528T → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-534; A-574 and A-581. 1 Publication1
Mutagenesisi534E → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-574 and A-581. 1 Publication1
Mutagenesisi574F → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-581. 1 Publication1
Mutagenesisi581T → A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-574. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

DisGeNET

More...DisGeNETi		23090

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ZNF423

MalaCards human disease database

More...MalaCardsi		ZNF423
MIMi614844 phenotype

Open Targets

More...OpenTargetsi		ENSG00000102935

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

More...Orphaneti		93591 Infantile nephronophthisis
2318 Joubert syndrome with oculorenal defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134903681

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q2M1K9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ZNF423

Domain mapping of disease mutations (DMDM)

More...DMDMi		121941357

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003085951 – 1284Zinc finger protein 423Add BLAST1284

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 residuei47PhosphoserineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei604PhosphoserineCombined sources1
Modified residuei1054PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q2M1K9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q2M1K9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q2M1K9

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

More...PaxDbi		Q2M1K9

PeptideAtlas

More...PeptideAtlasi		Q2M1K9

PRoteomics IDEntifications database

More...PRIDEi		Q2M1K9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61340

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q2M1K9

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

More...PhosphoSitePlusi		Q2M1K9

<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

Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102935 Expressed in 198 organ(s), highest expression level in cerebral cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q2M1K9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q2M1K9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA015258
HPA065820

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity).

Interacts with EBF1 (By similarity).

Interacts with SMAD1 and SMAD4.

Interacts with PARP1.

Interacts with CEP290.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116718, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q2M1K9, 15 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000455426

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q2M1K9 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

Secondary structure

11284
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q2M1K9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and Olf signaling pathways. C2H2-type zinc fingers 14-19 mediate the interaction with SMAD1 and SMAD4, while zinc fingers 28-30 mediate the interaction with EBF1. zinc fingers 2-8 bind the 5'-CCGCCC-3' DNA sequence in concert with EBF1, while zinc fingers 9-13 bind BMP target gene promoters in concert with SMADs.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the krueppel C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri67 – 93C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST27
Zinc fingeri138 – 160C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri166 – 188C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri194 – 216C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri222 – 244C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri263 – 286C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri295 – 318C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri323 – 345C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri409 – 433C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri441 – 464C2H2-type 10PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri480 – 503C2H2-type 11PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri517 – 540C2H2-type 12PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri563 – 588C2H2-type 13; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri632 – 654C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 15PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri692 – 715C2H2-type 16PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri720 – 743C2H2-type 17PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri750 – 773C2H2-type 18PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri781 – 803C2H2-type 19PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri807 – 830C2H2-type 20PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri886 – 908C2H2-type 21; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri930 – 952C2H2-type 22PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri959 – 981C2H2-type 23PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1020 – 1042C2H2-type 24PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1064 – 1082C2H2-type 25; degeneratePROSITE-ProRule annotationAdd BLAST19
Zinc fingeri1120 – 1143C2H2-type 26PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1168 – 1190C2H2-type 27PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1198 – 1220C2H2-type 28PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1229 – 1252C2H2-type 29PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1259 – 1282C2H2-type 30PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158492

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000155793

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q2M1K9

KEGG Orthology (KO)

More...KOi		K22870

Identification of Orthologs from Complete Genome Data

More...OMAi		WDFRKET

Database of Orthologous Groups

More...OrthoDBi		35998at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q2M1K9

TreeFam database of animal gene trees

More...TreeFami		TF331504

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355 ZnF_C2H2, 30 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667 SSF57667, 9 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 27 hits
PS50157 ZINC_FINGER_C2H2_2, 23 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_length">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2M1K9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHKKRVEEGE ASDFSLAWDS SVTAAGGLEG EPECDQKTSR ALEDRNSVTS 
        60         70         80         90        100
QEERNEDDED MEDESIYTCD HCQQDFESLA DLTDHRAHRC PGDGDDDPQL 
       110        120        130        140        150
SWVASSPSSK DVASPTQMIG DGCDLGLGEE EGGTGLPYPC QFCDKSFIRL 
       160        170        180        190        200
SYLKRHEQIH SDKLPFKCTY CSRLFKHKRS RDRHIKLHTG DKKYHCHECE 
       210        220        230        240        250
AAFSRSDHLK IHLKTHSSSK PFKCTVCKRG FSSTSSLQSH MQAHKKNKEH 
       260        270        280        290        300
LAKSEKEAKK DDFMCDYCED TFSQTEELEK HVLTRHPQLS EKADLQCIHC 
       310        320        330        340        350
PEVFVDENTL LAHIHQAHAN QKHKCPMCPE QFSSVEGVYC HLDSHRQPDS 
       360        370        380        390        400
SNHSVSPDPV LGSVASMSSA TPDSSASVER GSTPDSTLKP LRGQKKMRDD 
       410        420        430        440        450
GQGWTKVVYS CPYCSKRDFN SLAVLEIHLK TIHADKPQQS HTCQICLDSM 
       460        470        480        490        500
PTLYNLNEHV RKLHKNHAYP VMQFGNISAF HCNYCPEMFA DINSLQEHIR 
       510        520        530        540        550
VSHCGPNANP SDGNNAFFCN QCSMGFLTES SLTEHIQQAH CSVGSAKLES 
       560        570        580        590        600
PVVQPTQSFM EVYSCPYCTN SPIFGSILKL TKHIKENHKN IPLAHSKKSK 
       610        620        630        640        650
AEQSPVSSDV EVSSPKRQRL SASANSISNG EYPCNQCDLK FSNFESFQTH 
       660        670        680        690        700
LKLHLELLLR KQACPQCKED FDSQESLLQH LTVHYMTTST HYVCESCDKQ 
       710        720        730        740        750
FSSVDDLQKH LLDMHTFVLY HCTLCQEVFD SKVSIQVHLA VKHSNEKKMY 
       760        770        780        790        800
RCTACNWDFR KEADLQVHVK HSHLGNPAKA HKCIFCGETF STEVELQCHI 
       810        820        830        840        850
TTHSKKYNCK FCSKAFHAII LLEKHLREKH CVFDAATENG TANGVPPMAT 
       860        870        880        890        900
KKAEPADLQG MLLKNPEAPN SHEASEDDVD ASEPMYGCDI CGAAYTMEVL 
       910        920        930        940        950
LQNHRLRDHN IRPGEDDGSR KKAEFIKGSH KCNVCSRTFF SENGLREHLQ 
       960        970        980        990       1000
THRGPAKHYM CPICGERFPS LLTLTEHKVT HSKSLDTGTC RICKMPLQSE 
      1010       1020       1030       1040       1050
EEFIEHCQMH PDLRNSLTGF RCVVCMQTVT STLELKIHGT FHMQKLAGSS 
      1060       1070       1080       1090       1100
AASSPNGQGL QKLYKCALCL KEFRSKQDLV KLDVNGLPYG LCAGCMARSA 
      1110       1120       1130       1140       1150
NGQVGGLAPP EPADRPCAGL RCPECSVKFE SAEDLESHMQ VDHRDLTPET 
      1160       1170       1180       1190       1200
SGPRKGTQTS PVPRKKTYQC IKCQMTFENE REIQIHVANH MIEEGINHEC 
      1210       1220       1230       1240       1250
KLCNQMFDSP AKLLCHLIEH SFEGMGGTFK CPVCFTVFVQ ANKLQQHIFA 
      1260       1270       1280 
VHGQEDKIYD CSQCPQKFFF QTELQNHTMS QHAQ
Length:1,284
Mass (Da):144,605
Last modified:February 21, 2006 - 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:iF34CB87161738321
GO
Isoform 2 (identifier: Q2M1K9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.

Show »
Length:1,224
Mass (Da):137,950
Checksum:iA2DE880C1AA925F0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H7S1F5H7S1_HUMAN
Zinc finger protein 423
ZNF423
1,167Annotation score:

Annotation score:1 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>
A0A087WV99A0A087WV99_HUMAN
Zinc finger protein 423
ZNF423
102Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036844629N → S. Corresponds to variant dbSNP:rs34214571Ensembl.1
Natural variantiVAR_068501913P → L in NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus. 1 PublicationCorresponds to variant dbSNP:rs200585917Ensembl.1
Natural variantiVAR_0685021277H → Y in JBTS19. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0575951 – 60Missing in isoform 2. Add BLAST60

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
BC112315 mRNA Translation: AAI12316.1
BC112317 mRNA Translation: AAI12318.1
AF221712 mRNA Translation: AAF28354.1
AB018303 mRNA Translation: BAA34480.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32445.1 [Q2M1K9-1]
CCDS61930.1 [Q2M1K9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001258549.1, NM_001271620.2 [Q2M1K9-2]
NP_055884.2, NM_015069.4 [Q2M1K9-1]
XP_005255913.1, XM_005255856.4 [Q2M1K9-2]
XP_016878566.1, XM_017023077.1 [Q2M1K9-2]
XP_016878567.1, XM_017023078.1 [Q2M1K9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262383; ENSP00000262383; ENSG00000102935 [Q2M1K9-1]
ENST00000561648; ENSP00000455426; ENSG00000102935 [Q2M1K9-1]
ENST00000562520; ENSP00000457664; ENSG00000102935 [Q2M1K9-2]
ENST00000562871; ENSP00000457928; ENSG00000102935 [Q2M1K9-2]
ENST00000563137; ENSP00000455588; ENSG00000102935 [Q2M1K9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23090

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23090

UCSC genome browser

More...UCSCi		uc031qwd.2 human [Q2M1K9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
BC112315 mRNA Translation: AAI12316.1
BC112317 mRNA Translation: AAI12318.1
AF221712 mRNA Translation: AAF28354.1
AB018303 mRNA Translation: BAA34480.2
CCDSiCCDS32445.1 [Q2M1K9-1]
CCDS61930.1 [Q2M1K9-2]
RefSeqiNP_001258549.1, NM_001271620.2 [Q2M1K9-2]
NP_055884.2, NM_015069.4 [Q2M1K9-1]
XP_005255913.1, XM_005255856.4 [Q2M1K9-2]
XP_016878566.1, XM_017023077.1 [Q2M1K9-2]
XP_016878567.1, XM_017023078.1 [Q2M1K9-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MDGNMR-A928-981[»]
SMRiQ2M1K9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116718, 15 interactors
IntActiQ2M1K9, 15 interactors
STRINGi9606.ENSP00000455426

PTM databases

iPTMnetiQ2M1K9
PhosphoSitePlusiQ2M1K9

Polymorphism and mutation databases

BioMutaiZNF423
DMDMi121941357

Proteomic databases

EPDiQ2M1K9
jPOSTiQ2M1K9
MassIVEiQ2M1K9
PaxDbiQ2M1K9
PeptideAtlasiQ2M1K9
PRIDEiQ2M1K9
ProteomicsDBi61340

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		23090

Genome annotation databases

EnsembliENST00000262383; ENSP00000262383; ENSG00000102935 [Q2M1K9-1]
ENST00000561648; ENSP00000455426; ENSG00000102935 [Q2M1K9-1]
ENST00000562520; ENSP00000457664; ENSG00000102935 [Q2M1K9-2]
ENST00000562871; ENSP00000457928; ENSG00000102935 [Q2M1K9-2]
ENST00000563137; ENSP00000455588; ENSG00000102935 [Q2M1K9-2]
GeneIDi23090
KEGGihsa:23090
UCSCiuc031qwd.2 human [Q2M1K9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23090
DisGeNETi23090
EuPathDBiHostDB:ENSG00000102935.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		ZNF423
GeneReviewsiZNF423
HGNCiHGNC:16762 ZNF423
HPAiHPA015258
HPA065820
MalaCardsiZNF423
MIMi604557 gene
614844 phenotype
neXtProtiNX_Q2M1K9
OpenTargetsiENSG00000102935
Orphaneti93591 Infantile nephronophthisis
2318 Joubert syndrome with oculorenal defect
PharmGKBiPA134903681

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000158492
HOGENOMiHOG000155793
InParanoidiQ2M1K9
KOiK22870
OMAiWDFRKET
OrthoDBi35998at2759
PhylomeDBiQ2M1K9
TreeFamiTF331504

Enzyme and pathway databases

SIGNORiQ2M1K9

Miscellaneous databases

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

More...ChiTaRSi		ZNF423 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ZNF423

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

More...GenomeRNAii		23090
PharosiQ2M1K9 Tbio

Protein Ontology

More...PROi		PR:Q2M1K9
RNActiQ2M1K9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102935 Expressed in 198 organ(s), highest expression level in cerebral cortex
ExpressionAtlasiQ2M1K9 baseline and differential
GenevisibleiQ2M1K9 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 30 hits
SUPFAMiSSF57667 SSF57667, 9 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 27 hits
PS50157 ZINC_FINGER_C2H2_2, 23 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiZN423_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: Q2M1K9
Secondary accession number(s): O94860, Q76N04, Q9NZ13
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: February 21, 2006
Last modified: December 11, 2019
This is version 142 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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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