UniProtKB - Q2M1K9 (ZN423_HUMAN)

BLAST

>sp|Q2M1K9|ZN423_HUMAN Zinc finger protein 423 OS=Homo sapiens OX=9606 GN=ZNF423 PE=1 SV=1
MHKKRVEEGEASDFSLAWDSSVTAAGGLEGEPECDQKTSRALEDRNSVTSQEERNEDDED
MEDESIYTCDHCQQDFESLADLTDHRAHRCPGDGDDDPQLSWVASSPSSKDVASPTQMIG
DGCDLGLGEEEGGTGLPYPCQFCDKSFIRLSYLKRHEQIHSDKLPFKCTYCSRLFKHKRS
RDRHIKLHTGDKKYHCHECEAAFSRSDHLKIHLKTHSSSKPFKCTVCKRGFSSTSSLQSH
MQAHKKNKEHLAKSEKEAKKDDFMCDYCEDTFSQTEELEKHVLTRHPQLSEKADLQCIHC
PEVFVDENTLLAHIHQAHANQKHKCPMCPEQFSSVEGVYCHLDSHRQPDSSNHSVSPDPV
LGSVASMSSATPDSSASVERGSTPDSTLKPLRGQKKMRDDGQGWTKVVYSCPYCSKRDFN
SLAVLEIHLKTIHADKPQQSHTCQICLDSMPTLYNLNEHVRKLHKNHAYPVMQFGNISAF
HCNYCPEMFADINSLQEHIRVSHCGPNANPSDGNNAFFCNQCSMGFLTESSLTEHIQQAH
CSVGSAKLESPVVQPTQSFMEVYSCPYCTNSPIFGSILKLTKHIKENHKNIPLAHSKKSK
AEQSPVSSDVEVSSPKRQRLSASANSISNGEYPCNQCDLKFSNFESFQTHLKLHLELLLR
KQACPQCKEDFDSQESLLQHLTVHYMTTSTHYVCESCDKQFSSVDDLQKHLLDMHTFVLY
HCTLCQEVFDSKVSIQVHLAVKHSNEKKMYRCTACNWDFRKEADLQVHVKHSHLGNPAKA
HKCIFCGETFSTEVELQCHITTHSKKYNCKFCSKAFHAIILLEKHLREKHCVFDAATENG
TANGVPPMATKKAEPADLQGMLLKNPEAPNSHEASEDDVDASEPMYGCDICGAAYTMEVL
LQNHRLRDHNIRPGEDDGSRKKAEFIKGSHKCNVCSRTFFSENGLREHLQTHRGPAKHYM
CPICGERFPSLLTLTEHKVTHSKSLDTGTCRICKMPLQSEEEFIEHCQMHPDLRNSLTGF
RCVVCMQTVTSTLELKIHGTFHMQKLAGSSAASSPNGQGLQKLYKCALCLKEFRSKQDLV
KLDVNGLPYGLCAGCMARSANGQVGGLAPPEPADRPCAGLRCPECSVKFESAEDLESHMQ
VDHRDLTPETSGPRKGTQTSPVPRKKTYQCIKCQMTFENEREIQIHVANHMIEEGINHEC
KLCNQMFDSPAKLLCHLIEHSFEGMGGTFKCPVCFTVFVQANKLQQHIFAVHGQEDKIYD
CSQCPQKFFFQTELQNHTMSQHAQ

Align

Format
Add to basket Added to basket
History
Entry version 132 (07 Nov 2018)
Sequence version 1 (21 Feb 2006)
Previous versions | rss
Other tutorials and videos
Help video
Feedback

Protein

Zinc finger protein 423

Gene

ZNF423

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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 key	Position(s)	DescriptionActions	Length
Zinc fingerⁱ	67 – 93	C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST	27
Zinc fingerⁱ	138 – 160	C2H2-type 2PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	166 – 188	C2H2-type 3PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	194 – 216	C2H2-type 4PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	222 – 244	C2H2-type 5PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	263 – 286	C2H2-type 6PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	295 – 318	C2H2-type 7PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	323 – 345	C2H2-type 8PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	409 – 433	C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST	25
Zinc fingerⁱ	441 – 464	C2H2-type 10PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	480 – 503	C2H2-type 11PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	517 – 540	C2H2-type 12PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	563 – 588	C2H2-type 13; atypicalPROSITE-ProRule annotationAdd BLAST	26
Zinc fingerⁱ	632 – 654	C2H2-type 14PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	662 – 684	C2H2-type 15PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	692 – 715	C2H2-type 16PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	720 – 743	C2H2-type 17PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	750 – 773	C2H2-type 18PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	781 – 803	C2H2-type 19PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	807 – 830	C2H2-type 20PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	886 – 908	C2H2-type 21; degeneratePROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	930 – 952	C2H2-type 22PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	959 – 981	C2H2-type 23PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1020 – 1042	C2H2-type 24PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1064 – 1082	C2H2-type 25; degeneratePROSITE-ProRule annotationAdd BLAST	19
Zinc fingerⁱ	1120 – 1143	C2H2-type 26PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	1168 – 1190	C2H2-type 27PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1198 – 1220	C2H2-type 28PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1229 – 1252	C2H2-type 29PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	1259 – 1282	C2H2-type 30PROSITE-ProRule annotationAdd BLAST	24

GO - Molecular functionⁱ

DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
DNA-binding transcription factor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
metal ion binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell differentiation Source: UniProtKB-KW
negative regulation of cold-induced thermogenesis
Source: YuBioLab
Inferred from sequence or structural similarityⁱ
- 27238639
negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 10660046
nervous system development Source: UniProtKB-KW
Notch signaling pathway Source: UniProtKB
positive regulation of BMP signaling pathway Source: UniProtKB
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 10660046
regulation of transcription, DNA-templated
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding, Repressor
Biological process	Differentiation, Neurogenesis, Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

SIGNORⁱ	Q2M1K9

SIGNORⁱ

Q2M1K9

Names & Taxonomyⁱ

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
Gene namesⁱ	Name:ZNF423 Synonyms:KIAA0760, NPHP14, OAZ
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 16

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000102935.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:16762 ZNF423
MIMⁱ	604557 gene
neXtProtⁱ	NX_Q2M1K9

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_068501	913	P → 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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_068502	1277	H → Y in JBTS19. 1 Publication		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	420	N → 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 Publication	1
Mutagenesisⁱ	426	E → 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 Publication	1
Mutagenesisⁱ	452	T → 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 Publication	1
Mutagenesisⁱ	458	E → 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 Publication	1
Mutagenesisⁱ	491	D → 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 Publication	1
Mutagenesisⁱ	497	E → 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 Publication	1
Mutagenesisⁱ	528	T → 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 Publication	1
Mutagenesisⁱ	534	E → 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 Publication	1
Mutagenesisⁱ	574	F → 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 Publication	1
Mutagenesisⁱ	581	T → 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 Publication	1

Keywords - Diseaseⁱ

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	23090
MalaCards human disease database More...MalaCardsⁱ	ZNF423
MIMⁱ	614844 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000102935
Orphanetⁱ	2318 Joubert syndrome with oculorenal defect
PharmGKBⁱ	PA134903681

Polymorphism and mutation databases

DMDMⁱ	121941357

DMDMⁱ

121941357

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000308595	1 – 1284	Zinc finger protein 423Add BLAST		1284

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	47	PhosphoserineCombined sources	1
Modified residueⁱ	50	PhosphoserineCombined sources	1
Modified residueⁱ	604	PhosphoserineCombined sources	1
Modified residueⁱ	1054	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q2M1K9
PaxDbⁱ	Q2M1K9
PeptideAtlas More...PeptideAtlasⁱ	Q2M1K9
PRIDEⁱ	Q2M1K9
ProteomicsDBⁱ	61340

PTM databases

iPTMnetⁱ	Q2M1K9
PhosphoSitePlusⁱ	Q2M1K9

Expressionⁱ

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

Bgeeⁱ	ENSG00000102935 Expressed in 198 organ(s), highest expression level in cerebral cortex
CleanExⁱ	HS_ZNF423
ExpressionAtlasⁱ	Q2M1K9 baseline and differential
Genevisibleⁱ	Q2M1K9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA015258 HPA065820

HPAⁱ

HPA015258
HPA065820

Interactionⁱ

Subunit structureⁱ

Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290.By similarity2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
CEP290	O15078	3	EBI-950016,EBI-1811944
PARP1	P09874	2	EBI-950016,EBI-355676
RARA	P10276	2	EBI-950016,EBI-413374

Protein-protein interaction databases

BioGridⁱ	116718, 15 interactors
IntActⁱ	Q2M1K9, 9 interactors
STRINGⁱ	9606.ENSP00000262383

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	933 – 937	Combined sources	5
Helixⁱ	942 – 949	Combined sources	8
Helixⁱ	950 – 952	Combined sources	3
Beta strandⁱ	958 – 960	Combined sources	3
Beta strandⁱ	962 – 964	Combined sources	3
Beta strandⁱ	967 – 970	Combined sources	4
Helixⁱ	973 – 979	Combined sources	7

Show more details

3D structure databases

ProteinModelPortalⁱ	Q2M1K9
SMRⁱ	Q2M1K9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

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

Sequence similaritiesⁱ

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

Zinc finger

Feature key	Position(s)	DescriptionActions	Length
Zinc fingerⁱ	67 – 93	C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST	27
Zinc fingerⁱ	138 – 160	C2H2-type 2PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	166 – 188	C2H2-type 3PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	194 – 216	C2H2-type 4PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	222 – 244	C2H2-type 5PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	263 – 286	C2H2-type 6PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	295 – 318	C2H2-type 7PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	323 – 345	C2H2-type 8PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	409 – 433	C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST	25
Zinc fingerⁱ	441 – 464	C2H2-type 10PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	480 – 503	C2H2-type 11PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	517 – 540	C2H2-type 12PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	563 – 588	C2H2-type 13; atypicalPROSITE-ProRule annotationAdd BLAST	26
Zinc fingerⁱ	632 – 654	C2H2-type 14PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	662 – 684	C2H2-type 15PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	692 – 715	C2H2-type 16PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	720 – 743	C2H2-type 17PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	750 – 773	C2H2-type 18PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	781 – 803	C2H2-type 19PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	807 – 830	C2H2-type 20PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	886 – 908	C2H2-type 21; degeneratePROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	930 – 952	C2H2-type 22PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	959 – 981	C2H2-type 23PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1020 – 1042	C2H2-type 24PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1064 – 1082	C2H2-type 25; degeneratePROSITE-ProRule annotationAdd BLAST	19
Zinc fingerⁱ	1120 – 1143	C2H2-type 26PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	1168 – 1190	C2H2-type 27PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1198 – 1220	C2H2-type 28PROSITE-ProRule annotationAdd BLAST	23
Zinc fingerⁱ	1229 – 1252	C2H2-type 29PROSITE-ProRule annotationAdd BLAST	24
Zinc fingerⁱ	1259 – 1282	C2H2-type 30PROSITE-ProRule annotationAdd BLAST	24

Keywords - Domainⁱ

Repeat, Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00840000129874
HOGENOMⁱ	HOG000155793
HOVERGENⁱ	HBG052773
InParanoidⁱ	Q2M1K9
KEGG Orthology (KO) More...KOⁱ	K22870
OMAⁱ	IQQTHCN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00X5
PhylomeDBⁱ	Q2M1K9
TreeFamⁱ	TF331504

Family and domain databases

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
SMARTⁱ	View protein in SMART SM00355 ZnF_C2H2, 30 hits
SUPFAMⁱ	SSF57667 SSF57667, 9 hits
PROSITEⁱ	View protein in PROSITE PS00028 ZINC_FINGER_C2H2_1, 27 hits PS50157 ZINC_FINGER_C2H2_2, 23 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

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

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

This isoform has been chosen as the 'canonical' 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

Checksum:ⁱF34CB87161738321

Isoform 2 (identifier: Q2M1K9-2) [UniParc]FASTA Add to basket

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

« Hide

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

Note: No experimental confirmation available.Curated

Show »

Length:1,224

Mass (Da):137,950

Checksum:ⁱA2DE880C1AA925F0

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

F5H7S1	F5H7S1_HUMAN	Zinc finger protein 423 Zinc finger protein 423	ZNF423	1,167	Annotation score:
A0A087WV99	A0A087WV99_HUMAN	Zinc finger protein 423 Zinc finger protein 423	ZNF423	102	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_036844	629	N → S. Corresponds to variant dbSNP:rs34214571EnsemblClinVar.	1
Natural variantⁱVAR_068501	913	P → 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_068502	1277	H → Y in JBTS19. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_057595	1 – 60	Missing in isoform 2. Add BLAST		60

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
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]
UniGeneⁱ	Hs.443715 Hs.530930 Hs.744482

Genome annotation databases

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]
GeneIDⁱ	23090
KEGGⁱ	hsa:23090
UCSC genome browser More...UCSCⁱ	uc031qwd.2 human [Q2M1K9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
Q2M1K9	Zinc finger protein 423		RAT		1311	UniRef90_Q2M1K9
Zinc finger protein 423		MOUSE		1292
Uncharacterized protein		MACNE		1441
Zinc finger protein 423-like protein		CASCN		79
Uncharacterized protein		AOTNA		1318
+334

Protein	Similar proteins		Species	Score	Length	Source
Q2M1K9	Zinc finger protein 423		RAT		1311	UniRef50_Q2M1K9
Zinc finger protein 423		MOUSE		1292
Uncharacterized protein		MACNE		1441
Zinc finger protein 423-like protein		CASCN		79
Uncharacterized protein		AOTNA		1318
+512

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
CCDSⁱ	CCDS32445.1 [Q2M1K9-1] CCDS61930.1 [Q2M1K9-2]
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]
UniGeneⁱ	Hs.443715 Hs.530930 Hs.744482

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2MDG	NMR	-	A	928-981	[»]
ProteinModelPortalⁱ	Q2M1K9
SMRⁱ	Q2M1K9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	116718, 15 interactors
IntActⁱ	Q2M1K9, 9 interactors
STRINGⁱ	9606.ENSP00000262383

PTM databases

iPTMnetⁱ	Q2M1K9
PhosphoSitePlusⁱ	Q2M1K9

Polymorphism and mutation databases

DMDMⁱ	121941357

DMDMⁱ

121941357

Proteomic databases

EPDⁱ	Q2M1K9
PaxDbⁱ	Q2M1K9
PeptideAtlasⁱ	Q2M1K9
PRIDEⁱ	Q2M1K9
ProteomicsDBⁱ	61340

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	23090
Structural Biology Knowledgebase	Search...

Genome annotation databases

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]
GeneIDⁱ	23090
KEGGⁱ	hsa:23090
UCSCⁱ	uc031qwd.2 human [Q2M1K9-1]

Organism-specific databases

CTDⁱ	23090
DisGeNETⁱ	23090
EuPathDBⁱ	HostDB:ENSG00000102935.11
GeneCardsⁱ	ZNF423
HGNCⁱ	HGNC:16762 ZNF423
HPAⁱ	HPA015258 HPA065820
MalaCardsⁱ	ZNF423
MIMⁱ	604557 gene 614844 phenotype
neXtProtⁱ	NX_Q2M1K9
OpenTargetsⁱ	ENSG00000102935
Orphanetⁱ	2318 Joubert syndrome with oculorenal defect
PharmGKBⁱ	PA134903681
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
GeneTreeⁱ	ENSGT00840000129874
HOGENOMⁱ	HOG000155793
HOVERGENⁱ	HBG052773
InParanoidⁱ	Q2M1K9
KOⁱ	K22870
OMAⁱ	IQQTHCN
OrthoDBⁱ	EOG091G00X5
PhylomeDBⁱ	Q2M1K9
TreeFamⁱ	TF331504

Enzyme and pathway databases

SIGNORⁱ	Q2M1K9

SIGNORⁱ

Q2M1K9

Miscellaneous databases

ChiTaRSⁱ	ZNF423 human
GeneWikiⁱ	ZNF423
GenomeRNAiⁱ	23090
Protein Ontology More...PROⁱ	PR:Q2M1K9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000102935 Expressed in 198 organ(s), highest expression level in cerebral cortex
CleanExⁱ	HS_ZNF423
ExpressionAtlasⁱ	Q2M1K9 baseline and differential
Genevisibleⁱ	Q2M1K9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR036236 Znf_C2H2_sf IPR013087 Znf_C2H2_type
Pfamⁱ	View protein in Pfam PF00096 zf-C2H2, 6 hits
SMARTⁱ	View protein in SMART SM00355 ZnF_C2H2, 30 hits
SUPFAMⁱ	SSF57667 SSF57667, 9 hits
PROSITEⁱ	View protein in PROSITE PS00028 ZINC_FINGER_C2H2_1, 27 hits PS50157 ZINC_FINGER_C2H2_2, 23 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ZN423_HUMAN
Accessionⁱ	Q2M1K9Primary (citable) accession number: Q2M1K9 Secondary accession number(s): O94860, Q76N04, Q9NZ13
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
	Last sequence update:	February 21, 2006
	Last modified:	November 7, 2018
	This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q2M1K9 (ZN423_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Zinc finger protein 423

ZNF423

Select a section on the left to see content.

<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

Regions

<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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

Nucleus

Keywords - Cellular componenti

<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

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<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

3D structure databases

<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 information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ