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Q2M1K9

- ZN423_HUMAN

UniProt

Q2M1K9 - ZN423_HUMAN

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Protein
Zinc finger protein 423
Gene
ZNF423, KIAA0760, NPHP14, OAZ
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri67 – 9327C2H2-type 1; degenerate
Add
BLAST
Zinc fingeri138 – 16023C2H2-type 2
Add
BLAST
Zinc fingeri166 – 18823C2H2-type 3
Add
BLAST
Zinc fingeri194 – 21623C2H2-type 4
Add
BLAST
Zinc fingeri222 – 24423C2H2-type 5
Add
BLAST
Zinc fingeri263 – 28624C2H2-type 6
Add
BLAST
Zinc fingeri295 – 31824C2H2-type 7
Add
BLAST
Zinc fingeri323 – 34523C2H2-type 8
Add
BLAST
Zinc fingeri409 – 43325C2H2-type 9; degenerate
Add
BLAST
Zinc fingeri441 – 46424C2H2-type 10
Add
BLAST
Zinc fingeri480 – 50324C2H2-type 11
Add
BLAST
Zinc fingeri517 – 54024C2H2-type 12
Add
BLAST
Zinc fingeri563 – 58826C2H2-type 13; atypical
Add
BLAST
Zinc fingeri632 – 65423C2H2-type 14
Add
BLAST
Zinc fingeri662 – 68423C2H2-type 15
Add
BLAST
Zinc fingeri692 – 71524C2H2-type 16
Add
BLAST
Zinc fingeri720 – 74324C2H2-type 17
Add
BLAST
Zinc fingeri750 – 77324C2H2-type 18
Add
BLAST
Zinc fingeri781 – 80323C2H2-type 19
Add
BLAST
Zinc fingeri807 – 83024C2H2-type 20
Add
BLAST
Zinc fingeri886 – 90823C2H2-type 21; degenerate
Add
BLAST
Zinc fingeri930 – 95223C2H2-type 22
Add
BLAST
Zinc fingeri959 – 98123C2H2-type 23
Add
BLAST
Zinc fingeri1020 – 104223C2H2-type 24
Add
BLAST
Zinc fingeri1064 – 108219C2H2-type 25; degenerate
Add
BLAST
Zinc fingeri1120 – 114324C2H2-type 26
Add
BLAST
Zinc fingeri1168 – 119023C2H2-type 27
Add
BLAST
Zinc fingeri1198 – 122023C2H2-type 28
Add
BLAST
Zinc fingeri1229 – 125224C2H2-type 29
Add
BLAST
Zinc fingeri1259 – 128224C2H2-type 30
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. protein binding Source: UniProtKB

GO - Biological processi

  1. Notch signaling pathway Source: UniProtKB
  2. cell differentiation Source: UniProtKB-KW
  3. negative regulation of transcription, DNA-templated Source: UniProtKB
  4. nervous system development Source: UniProtKB-KW
  5. positive regulation of BMP signaling pathway Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:16762. ZNF423.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 14 (NPHP14) [MIM:614844]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti913 – 9131P → L in NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus. 1 Publication
Corresponds to variant rs200585917 [ dbSNP | Ensembl ].
VAR_068501
Joubert syndrome 19 (JBTS19) [MIM:614844]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1277 – 12771H → Y in JBTS19. 1 Publication
VAR_068502

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi420 – 4201N → 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
Mutagenesisi426 – 4261E → 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
Mutagenesisi452 – 4521T → 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
Mutagenesisi458 – 4581E → 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
Mutagenesisi491 – 4911D → 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
Mutagenesisi497 – 4971E → 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
Mutagenesisi528 – 5281T → 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
Mutagenesisi534 – 5341E → 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
Mutagenesisi574 – 5741F → 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
Mutagenesisi581 – 5811T → 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

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

MIMi614844. phenotype.
Orphaneti2318. Joubert syndrome with oculorenal defect.
PharmGKBiPA134903681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12841284Zinc finger protein 423
PRO_0000308595Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei47 – 471Phosphoserine1 Publication
Modified residuei50 – 501Phosphoserine1 Publication
Modified residuei604 – 6041Phosphoserine1 Publication
Modified residuei1054 – 10541Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ2M1K9.
PRIDEiQ2M1K9.

PTM databases

PhosphoSiteiQ2M1K9.

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

ArrayExpressiQ2M1K9.
BgeeiQ2M1K9.
CleanExiHS_ZNF423.
GenevestigatoriQ2M1K9.

Organism-specific databases

HPAiHPA015258.

Interactioni

Subunit structurei

Homodimer By similarity. Interacts with EBF1 By similarity. Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290.2 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi116718. 9 interactions.
IntActiQ2M1K9. 9 interactions.
MINTiMINT-2819859.
STRINGi9606.ENSP00000262383.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi933 – 9375
Helixi942 – 9498
Helixi950 – 9523
Beta strandi958 – 9603
Beta strandi962 – 9643
Beta strandi967 – 9704
Helixi973 – 9797

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MDGNMR-A928-981[»]
ProteinModelPortaliQ2M1K9.
SMRiQ2M1K9. Positions 32-352, 641-827, 928-981, 1115-1142, 1168-1284.

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.

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000155793.
HOVERGENiHBG052773.
OMAiFIEHCQM.
OrthoDBiEOG7NGQB0.
PhylomeDBiQ2M1K9.
TreeFamiTF331504.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 4 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]

Sequencei

Sequence statusi: Complete.

Q2M1K9-1 [UniParc]FASTAAdd to Basket

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MHKKRVEEGE ASDFSLAWDS SVTAAGGLEG EPECDQKTSR ALEDRNSVTS     50
QEERNEDDED MEDESIYTCD HCQQDFESLA DLTDHRAHRC PGDGDDDPQL 100
SWVASSPSSK DVASPTQMIG DGCDLGLGEE EGGTGLPYPC QFCDKSFIRL 150
SYLKRHEQIH SDKLPFKCTY CSRLFKHKRS RDRHIKLHTG DKKYHCHECE 200
AAFSRSDHLK IHLKTHSSSK PFKCTVCKRG FSSTSSLQSH MQAHKKNKEH 250
LAKSEKEAKK DDFMCDYCED TFSQTEELEK HVLTRHPQLS EKADLQCIHC 300
PEVFVDENTL LAHIHQAHAN QKHKCPMCPE QFSSVEGVYC HLDSHRQPDS 350
SNHSVSPDPV LGSVASMSSA TPDSSASVER GSTPDSTLKP LRGQKKMRDD 400
GQGWTKVVYS CPYCSKRDFN SLAVLEIHLK TIHADKPQQS HTCQICLDSM 450
PTLYNLNEHV RKLHKNHAYP VMQFGNISAF HCNYCPEMFA DINSLQEHIR 500
VSHCGPNANP SDGNNAFFCN QCSMGFLTES SLTEHIQQAH CSVGSAKLES 550
PVVQPTQSFM EVYSCPYCTN SPIFGSILKL TKHIKENHKN IPLAHSKKSK 600
AEQSPVSSDV EVSSPKRQRL SASANSISNG EYPCNQCDLK FSNFESFQTH 650
LKLHLELLLR KQACPQCKED FDSQESLLQH LTVHYMTTST HYVCESCDKQ 700
FSSVDDLQKH LLDMHTFVLY HCTLCQEVFD SKVSIQVHLA VKHSNEKKMY 750
RCTACNWDFR KEADLQVHVK HSHLGNPAKA HKCIFCGETF STEVELQCHI 800
TTHSKKYNCK FCSKAFHAII LLEKHLREKH CVFDAATENG TANGVPPMAT 850
KKAEPADLQG MLLKNPEAPN SHEASEDDVD ASEPMYGCDI CGAAYTMEVL 900
LQNHRLRDHN IRPGEDDGSR KKAEFIKGSH KCNVCSRTFF SENGLREHLQ 950
THRGPAKHYM CPICGERFPS LLTLTEHKVT HSKSLDTGTC RICKMPLQSE 1000
EEFIEHCQMH PDLRNSLTGF RCVVCMQTVT STLELKIHGT FHMQKLAGSS 1050
AASSPNGQGL QKLYKCALCL KEFRSKQDLV KLDVNGLPYG LCAGCMARSA 1100
NGQVGGLAPP EPADRPCAGL RCPECSVKFE SAEDLESHMQ VDHRDLTPET 1150
SGPRKGTQTS PVPRKKTYQC IKCQMTFENE REIQIHVANH MIEEGINHEC 1200
KLCNQMFDSP AKLLCHLIEH SFEGMGGTFK CPVCFTVFVQ ANKLQQHIFA 1250
VHGQEDKIYD CSQCPQKFFF QTELQNHTMS QHAQ 1284
Length:1,284
Mass (Da):144,605
Last modified:February 21, 2006 - v1
Checksum:iF34CB87161738321
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti629 – 6291N → S.
Corresponds to variant rs34214571 [ dbSNP | Ensembl ].
VAR_036844
Natural varianti913 – 9131P → L in NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus. 1 Publication
Corresponds to variant rs200585917 [ dbSNP | Ensembl ].
VAR_068501
Natural varianti1277 – 12771H → Y in JBTS19. 1 Publication
VAR_068502

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
BC112315 mRNA. Translation: AAI12316.1.
BC112317 mRNA. Translation: AAI12318.1.
AF221712 mRNA. Translation: AAF28354.1.
AB018303 mRNA. Translation: BAA34480.2.
CCDSiCCDS32445.1.
RefSeqiNP_001258549.1. NM_001271620.1.
NP_055884.2. NM_015069.3.
XP_005255913.1. XM_005255856.2.
UniGeneiHs.530930.
Hs.744482.

Genome annotation databases

EnsembliENST00000262383; ENSP00000262383; ENSG00000102935.
ENST00000561648; ENSP00000455426; ENSG00000102935.
ENST00000562520; ENSP00000457664; ENSG00000102935.
ENST00000562871; ENSP00000457928; ENSG00000102935.
ENST00000563137; ENSP00000455588; ENSG00000102935.
GeneIDi23090.
KEGGihsa:23090.
UCSCiuc010vgn.3. human.

Polymorphism databases

DMDMi121941357.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqi NP_001258549.1. NM_001271620.1.
NP_055884.2. NM_015069.3.
XP_005255913.1. XM_005255856.2.
UniGenei Hs.530930.
Hs.744482.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2MDG NMR - A 928-981 [» ]
ProteinModelPortali Q2M1K9.
SMRi Q2M1K9. Positions 32-352, 641-827, 928-981, 1115-1142, 1168-1284.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116718. 9 interactions.
IntActi Q2M1K9. 9 interactions.
MINTi MINT-2819859.
STRINGi 9606.ENSP00000262383.

PTM databases

PhosphoSitei Q2M1K9.

Polymorphism databases

DMDMi 121941357.

Proteomic databases

PaxDbi Q2M1K9.
PRIDEi Q2M1K9.

Protocols and materials databases

DNASUi 23090.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262383 ; ENSP00000262383 ; ENSG00000102935 .
ENST00000561648 ; ENSP00000455426 ; ENSG00000102935 .
ENST00000562520 ; ENSP00000457664 ; ENSG00000102935 .
ENST00000562871 ; ENSP00000457928 ; ENSG00000102935 .
ENST00000563137 ; ENSP00000455588 ; ENSG00000102935 .
GeneIDi 23090.
KEGGi hsa:23090.
UCSCi uc010vgn.3. human.

Organism-specific databases

CTDi 23090.
GeneCardsi GC16M049524.
HGNCi HGNC:16762. ZNF423.
HPAi HPA015258.
MIMi 604557. gene.
614844. phenotype.
neXtProti NX_Q2M1K9.
Orphaneti 2318. Joubert syndrome with oculorenal defect.
PharmGKBi PA134903681.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000155793.
HOVERGENi HBG052773.
OMAi FIEHCQM.
OrthoDBi EOG7NGQB0.
PhylomeDBi Q2M1K9.
TreeFami TF331504.

Miscellaneous databases

GeneWikii ZNF423.
GenomeRNAii 23090.
NextBioi 44239.
PROi Q2M1K9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q2M1K9.
Bgeei Q2M1K9.
CleanExi HS_ZNF423.
Genevestigatori Q2M1K9.

Family and domain databases

Gene3Di 3.30.160.60. 4 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 4 hits.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 30 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 27 hits.
PS50157. ZINC_FINGER_C2H2_2. 23 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways."
    Hata A., Seoane J., Lagna G., Montalvo E., Hemmati-Brivanlou A., Massague J.
    Cell 100:229-240(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 61-1284, FUNCTION, DNA-BINDING, SUBCELLULAR LOCATION, DOMAIN, TISSUE SPECIFICITY, INTERACTION WITH SMAD1 AND SMAD4, MUTAGENESIS OF ASN-420; GLU-426; THR-452; GLU-458; ASP-491; GLU-497; THR-528; GLU-534; PHE-574 AND THR-581.
  3. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 61-1284.
    Tissue: Brain.
  4. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  5. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-47; SER-50; SER-604 AND SER-1054, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
    Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
    , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
    Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PARP1 AND CEP290, VARIANT NPHP14 LEU-913, VARIANT JBTS19 TYR-1277.

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: July 9, 2014
This is version 93 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

External Data

Dasty 3

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