UniProtKB - Q2M1K9 (ZN423_HUMAN)
Zinc finger protein 423
ZNF423
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 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | 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 transcription factor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: MGI
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- negative regulation of cold-induced thermogenesis Source: YuBioLab
- negative regulation of transcription, DNA-templated Source: UniProtKB
- 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
- protein localization to cilium Source: MGI
- regulation of transcription, DNA-templated Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q2M1K9 |
SignaLinki | Q2M1K9 |
SIGNORi | Q2M1K9 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein 423Alternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16762, ZNF423 |
MIMi | 604557, gene |
neXtProti | NX_Q2M1K9 |
VEuPathDBi | HostDB:ENSG00000102935 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Nephronophthisis 14 (NPHP14)1 Publication
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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068502 | 1277 | H → Y in JBTS19. 1 PublicationCorresponds to variant dbSNP:rs1596988259Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | 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 variant, Joubert syndrome, NephronophthisisOrganism-specific databases
DisGeNETi | 23090 |
GeneReviewsi | ZNF423 |
MalaCardsi | ZNF423 |
MIMi | 614844, phenotype |
OpenTargetsi | ENSG00000102935 |
Orphaneti | 93591, Infantile nephronophthisis 2318, Joubert syndrome with oculorenal defect |
PharmGKBi | PA134903681 |
Miscellaneous databases
Pharosi | Q2M1K9, Tbio |
Genetic variation databases
BioMutai | ZNF423 |
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 | Graphical view | 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
PhosphoproteinProteomic databases
EPDi | Q2M1K9 |
jPOSTi | Q2M1K9 |
MassIVEi | Q2M1K9 |
PaxDbi | Q2M1K9 |
PeptideAtlasi | Q2M1K9 |
PRIDEi | Q2M1K9 |
ProteomicsDBi | 61340 |
PTM databases
GlyGeni | Q2M1K9, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q2M1K9 |
PhosphoSitePlusi | Q2M1K9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000102935, Expressed in cerebral cortex and 213 other tissues |
ExpressionAtlasi | Q2M1K9, baseline and differential |
Genevisiblei | Q2M1K9, HS |
Organism-specific databases
HPAi | ENSG00000102935, Tissue enhanced (brain, skeletal muscle) |
Interactioni
Subunit structurei
Homodimer (By similarity).
Interacts with EBF1 (By similarity).
Interacts with SMAD1 and SMAD4.
Interacts with PARP1.
Interacts with CEP290.
By similarity2 PublicationsBinary interactionsi
Q2M1K9
With | #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, 29 interactors |
IntActi | Q2M1K9, 19 interactors |
MINTi | Q2M1K9 |
STRINGi | 9606.ENSP00000455426 |
Miscellaneous databases
RNActi | Q2M1K9, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q2M1K9 |
BMRBi | Q2M1K9 |
SMRi | Q2M1K9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 64 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 87 – 117 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 346 – 398 | DisorderedSequence analysisAdd BLAST | 53 | |
Regioni | 590 – 624 | DisorderedSequence analysisAdd BLAST | 35 | |
Regioni | 1136 – 1163 | DisorderedSequence analysisAdd BLAST | 28 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 33 – 52 | Basic and acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 101 – 115 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 349 – 389 | Polar residuesSequence analysisAdd BLAST | 41 | |
Compositional biasi | 600 – 624 | Polar residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 1136 – 1150 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | 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-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158492 |
InParanoidi | Q2M1K9 |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q2M1K9 |
TreeFami | TF331504 |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H7S1 | F5H7S1_HUMAN | Zinc finger protein 423 | ZNF423 | 1,167 | Annotation score: | ||
A0A7P0Q1F0 | A0A7P0Q1F0_HUMAN | Zinc finger protein 423 | ZNF423 | 1,292 | Annotation score: | ||
A0A087WV99 | A0A087WV99_HUMAN | Zinc finger protein 423 | ZNF423 | 102 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036844 | 629 | N → S. Corresponds to variant dbSNP:rs34214571Ensembl. | 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 PublicationCorresponds to variant dbSNP:rs1596988259Ensembl. | 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 |
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] |
Genome annotation databases
Ensembli | ENST00000561648.5; ENSP00000455426.1; ENSG00000102935.12 ENST00000562520.1; ENSP00000457664.1; ENSG00000102935.12 [Q2M1K9-2] ENST00000562871.5; ENSP00000457928.1; ENSG00000102935.12 [Q2M1K9-2] |
GeneIDi | 23090 |
KEGGi | hsa:23090 |
UCSCi | uc031qwd.2, human [Q2M1K9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2MDG | NMR | - | A | 928-981 | [»] | |
AlphaFoldDBi | Q2M1K9 | |||||
BMRBi | Q2M1K9 | |||||
SMRi | Q2M1K9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116718, 29 interactors |
IntActi | Q2M1K9, 19 interactors |
MINTi | Q2M1K9 |
STRINGi | 9606.ENSP00000455426 |
PTM databases
GlyGeni | Q2M1K9, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q2M1K9 |
PhosphoSitePlusi | Q2M1K9 |
Genetic variation databases
BioMutai | ZNF423 |
DMDMi | 121941357 |
Proteomic databases
EPDi | Q2M1K9 |
jPOSTi | Q2M1K9 |
MassIVEi | Q2M1K9 |
PaxDbi | Q2M1K9 |
PeptideAtlasi | Q2M1K9 |
PRIDEi | Q2M1K9 |
ProteomicsDBi | 61340 |
Protocols and materials databases
ABCDi | Q2M1K9, 1 sequenced antibody |
Antibodypediai | 28187, 105 antibodies from 25 providers |
DNASUi | 23090 |
Genome annotation databases
Ensembli | ENST00000561648.5; ENSP00000455426.1; ENSG00000102935.12 ENST00000562520.1; ENSP00000457664.1; ENSG00000102935.12 [Q2M1K9-2] ENST00000562871.5; ENSP00000457928.1; ENSG00000102935.12 [Q2M1K9-2] |
GeneIDi | 23090 |
KEGGi | hsa:23090 |
UCSCi | uc031qwd.2, human [Q2M1K9-1] |
Organism-specific databases
CTDi | 23090 |
DisGeNETi | 23090 |
GeneCardsi | ZNF423 |
GeneReviewsi | ZNF423 |
HGNCi | HGNC:16762, ZNF423 |
HPAi | ENSG00000102935, Tissue enhanced (brain, skeletal muscle) |
MalaCardsi | ZNF423 |
MIMi | 604557, gene 614844, phenotype |
neXtProti | NX_Q2M1K9 |
OpenTargetsi | ENSG00000102935 |
Orphaneti | 93591, Infantile nephronophthisis 2318, Joubert syndrome with oculorenal defect |
PharmGKBi | PA134903681 |
VEuPathDBi | HostDB:ENSG00000102935 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158492 |
InParanoidi | Q2M1K9 |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q2M1K9 |
TreeFami | TF331504 |
Enzyme and pathway databases
PathwayCommonsi | Q2M1K9 |
SignaLinki | Q2M1K9 |
SIGNORi | Q2M1K9 |
Miscellaneous databases
BioGRID-ORCSi | 23090, 14 hits in 1097 CRISPR screens |
ChiTaRSi | ZNF423, human |
GeneWikii | ZNF423 |
GenomeRNAii | 23090 |
Pharosi | Q2M1K9, Tbio |
PROi | PR:Q2M1K9 |
RNActi | Q2M1K9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102935, Expressed in cerebral cortex and 213 other tissues |
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 |
MobiDBi | 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: | May 25, 2022 | |
This is version 154 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, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - 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 - SIMILARITY comments
Index of protein domains and families