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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-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 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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:16762. ZNF423.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

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.
See also OMIM:614844
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068501913P → L in NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus. 1 PublicationCorresponds to variant rs200585917dbSNPEnsembl.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.
See also OMIM:614844
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0685021277H → Y in JBTS19. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi23090.
MalaCardsiZNF423.
MIMi614844. phenotype.
OpenTargetsiENSG00000102935.
Orphaneti2318. Joubert syndrome with oculorenal defect.
PharmGKBiPA134903681.

Polymorphism and mutation databases

DMDMi121941357.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003085951 – 1284Zinc finger protein 423Add BLAST1284

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei47PhosphoserineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei604PhosphoserineCombined sources1
Modified residuei1054PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ2M1K9.
PaxDbiQ2M1K9.
PeptideAtlasiQ2M1K9.
PRIDEiQ2M1K9.

PTM databases

iPTMnetiQ2M1K9.
PhosphoSitePlusiQ2M1K9.

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

BgeeiENSG00000102935.
CleanExiHS_ZNF423.
ExpressionAtlasiQ2M1K9. baseline and differential.
GenevisibleiQ2M1K9. HS.

Organism-specific databases

HPAiHPA015258.
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

WithEntry#Exp.IntActNotes
CEP290O150783EBI-950016,EBI-1811944
PARP1P098742EBI-950016,EBI-355676
RARAP102762EBI-950016,EBI-413374

Protein-protein interaction databases

BioGridi116718. 15 interactors.
IntActiQ2M1K9. 9 interactors.
MINTiMINT-2819859.
STRINGi9606.ENSP00000262383.

Structurei

Secondary structure

11284
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi933 – 937Combined sources5
Helixi942 – 949Combined sources8
Helixi950 – 952Combined sources3
Beta strandi958 – 960Combined sources3
Beta strandi962 – 964Combined sources3
Beta strandi967 – 970Combined sources4
Helixi973 – 979Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MDGNMR-A928-981[»]
ProteinModelPortaliQ2M1K9.
SMRiQ2M1K9.
ModBaseiSearch...
MobiDBiSearch...

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

Contains 30 C2H2-type zinc fingers.PROSITE-ProRule annotation

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

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129874.
HOGENOMiHOG000155793.
HOVERGENiHBG052773.
InParanoidiQ2M1K9.
OMAiFIEHCQM.
OrthoDBiEOG091G00X5.
PhylomeDBiQ2M1K9.
TreeFamiTF331504.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
3.30.40.10. 1 hit.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF13912. zf-C2H2_6. 3 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 30 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 27 hits.
PS50157. ZINC_FINGER_C2H2_2. 23 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Note: No experimental confirmation available.Curated
Show »
Length:1,224
Mass (Da):137,950
Checksum:iA2DE880C1AA925F0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036844629N → S.Corresponds to variant rs34214571dbSNPEnsembl.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 rs200585917dbSNPEnsembl.1
Natural variantiVAR_0685021277H → Y in JBTS19. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0575951 – 60Missing in isoform 2. Add BLAST60

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]
UniGeneiHs.443715.
Hs.530930.
Hs.744482.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.443715.
Hs.530930.
Hs.744482.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MDGNMR-A928-981[»]
ProteinModelPortaliQ2M1K9.
SMRiQ2M1K9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116718. 15 interactors.
IntActiQ2M1K9. 9 interactors.
MINTiMINT-2819859.
STRINGi9606.ENSP00000262383.

PTM databases

iPTMnetiQ2M1K9.
PhosphoSitePlusiQ2M1K9.

Polymorphism and mutation databases

DMDMi121941357.

Proteomic databases

EPDiQ2M1K9.
PaxDbiQ2M1K9.
PeptideAtlasiQ2M1K9.
PRIDEiQ2M1K9.

Protocols and materials databases

DNASUi23090.
Structural Biology KnowledgebaseSearch...

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

CTDi23090.
DisGeNETi23090.
GeneCardsiZNF423.
HGNCiHGNC:16762. ZNF423.
HPAiHPA015258.
HPA065820.
MalaCardsiZNF423.
MIMi604557. gene.
614844. phenotype.
neXtProtiNX_Q2M1K9.
OpenTargetsiENSG00000102935.
Orphaneti2318. Joubert syndrome with oculorenal defect.
PharmGKBiPA134903681.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129874.
HOGENOMiHOG000155793.
HOVERGENiHBG052773.
InParanoidiQ2M1K9.
OMAiFIEHCQM.
OrthoDBiEOG091G00X5.
PhylomeDBiQ2M1K9.
TreeFamiTF331504.

Miscellaneous databases

ChiTaRSiZNF423. human.
GeneWikiiZNF423.
GenomeRNAii23090.
PROiQ2M1K9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102935.
CleanExiHS_ZNF423.
ExpressionAtlasiQ2M1K9. baseline and differential.
GenevisibleiQ2M1K9. HS.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
3.30.40.10. 1 hit.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF13912. zf-C2H2_6. 3 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 30 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 27 hits.
PS50157. ZINC_FINGER_C2H2_2. 23 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN423_HUMAN
AccessioniPrimary (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 30, 2016
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

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