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Protein

Zinc finger protein 513

Gene

ZNF513

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional regulator that plays a role in retinal development and maintenance.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri150 – 17223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri178 – 20023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri206 – 22823C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri360 – 38223C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri388 – 41023C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri416 – 43823C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri444 – 46623C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri472 – 49423C2H2-type 8PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Transcription, Transcription regulation, Vision

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 513
Gene namesi
Name:ZNF513
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26498. ZNF513.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 58 (RP58)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613617
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti339 – 3391C → R in RP58; cannot bind to promoters of retinal-specific genes. 1 Publication
Corresponds to variant rs267607182 [ dbSNP | Ensembl ].
VAR_064926

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MalaCardsiZNF513.
MIMi613617. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134872812.

Polymorphism and mutation databases

BioMutaiZNF513.
DMDMi212276483.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 541541Zinc finger protein 513PRO_0000047632Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei85 – 851PhosphoserineCombined sources
Modified residuei96 – 961PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N8E2.
PeptideAtlasiQ8N8E2.
PRIDEiQ8N8E2.

PTM databases

iPTMnetiQ8N8E2.
PhosphoSiteiQ8N8E2.

Expressioni

Tissue specificityi

In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer.1 Publication

Gene expression databases

BgeeiENSG00000163795.
CleanExiHS_ZNF513.
ExpressionAtlasiQ8N8E2. baseline and differential.
GenevisibleiQ8N8E2. HS.

Organism-specific databases

HPAiHPA051493.

Interactioni

Subunit structurei

Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and OPN1SW.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
KAT5Q929933EBI-10279993,EBI-399080

Protein-protein interaction databases

BioGridi126240. 5 interactions.
IntActiQ8N8E2. 1 interaction.
STRINGi9606.ENSP00000318373.

Structurei

3D structure databases

ProteinModelPortaliQ8N8E2.
SMRiQ8N8E2. Positions 167-240, 358-494.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi45 – 5410Poly-Glu
Compositional biasi55 – 14187Gly-richAdd
BLAST

Sequence similaritiesi

Contains 8 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri150 – 17223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri178 – 20023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri206 – 22823C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri360 – 38223C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri388 – 41023C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri416 – 43823C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri444 – 46623C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri472 – 49423C2H2-type 8PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00810000125424.
HOVERGENiHBG097012.
InParanoidiQ8N8E2.
OMAiTSFLPDC.
OrthoDBiEOG091G05JD.
PhylomeDBiQ8N8E2.
TreeFamiTF350015.

Family and domain databases

Gene3Di3.30.160.60. 8 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N8E2-1) [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
MPRRKQSHPQ PVKCEGVKVD TEDSLDEGPG ALVLESDLLL GQDLEFEEEE
60 70 80 90 100
EEEEGDGNSD QLMGFERDSE GDSLGARPGL PYGLSDDESG GGRALSAESE
110 120 130 140 150
VEEPARGPGE ARGERPGPAC QLCGGPTGEG PCCGAGGPGG GPLLPPRLLY
160 170 180 190 200
SCRLCTFVSH YSSHLKRHMQ THSGEKPFRC GRCPYASAQL VNLTRHTRTH
210 220 230 240 250
TGEKPYRCPH CPFACSSLGN LRRHQRTHAG PPTPPCPTCG FRCCTPRPAR
260 270 280 290 300
PPSPTEQEGA VPRRPEDALL LPDLSLHVPP GGASFLPDCG QLRGEGEGLC
310 320 330 340 350
GTGSEPLPEL LFPWTCRGCG QELEEGEGSR LGAAMCGRCM RGEAGGGASG
360 370 380 390 400
GPQGPSDKGF ACSLCPFATH YPNHLARHMK THSGEKPFRC ARCPYASAHL
410 420 430 440 450
DNLKRHQRVH TGEKPYKCPL CPYACGNLAN LKRHGRIHSG DKPFRCSLCN
460 470 480 490 500
YSCNQSMNLK RHMLRHTGEK PFRCATCAYT TGHWDNYKRH QKVHGHGGAG
510 520 530 540
GPGLSASEGW APPHSPPSVL SSRGPPALGT AGSRAVHTDS S
Length:541
Mass (Da):57,882
Last modified:November 4, 2008 - v2
Checksum:iC35D2912AE8F1C73
GO
Isoform 2 (identifier: Q8N8E2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-62: Missing.

Show »
Length:479
Mass (Da):51,002
Checksum:i9CA5C483824C1DDA
GO
Isoform 3 (identifier: Q8N8E2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-334: Missing.

Note: No experimental confirmation available.
Show »
Length:207
Mass (Da):22,352
Checksum:iB5482CEB24A6CC1F
GO

Sequence cautioni

The sequence BAB71274 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti166 – 1661K → R in BAD38657 (PubMed:15221005).Curated
Sequence conflicti440 – 4401G → S in BAF83379 (PubMed:14702039).Curated
Sequence conflicti494 – 4941H → Y in BAC04903 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti339 – 3391C → R in RP58; cannot bind to promoters of retinal-specific genes. 1 Publication
Corresponds to variant rs267607182 [ dbSNP | Ensembl ].
VAR_064926

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 334334Missing in isoform 3. 1 PublicationVSP_035624Add
BLAST
Alternative sequencei1 – 6262Missing in isoform 2. 2 PublicationsVSP_035625Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056765 mRNA. Translation: BAB71274.1. Different initiation.
AK096933 mRNA. Translation: BAC04903.1.
AK290690 mRNA. Translation: BAF83379.1.
AB075875 mRNA. Translation: BAD38657.1.
AL833946 mRNA. Translation: CAD38801.1.
AC074117 Genomic DNA. Translation: AAY14845.1.
CH471053 Genomic DNA. Translation: EAX00583.1.
BC040650 mRNA. Translation: AAH40650.1.
BC052282 mRNA. Translation: AAH52282.1.
CCDSiCCDS1751.1. [Q8N8E2-1]
CCDS56114.1. [Q8N8E2-2]
RefSeqiNP_001188388.1. NM_001201459.1. [Q8N8E2-2]
NP_653232.3. NM_144631.5. [Q8N8E2-1]
XP_005264199.1. XM_005264142.2. [Q8N8E2-2]
XP_005264200.1. XM_005264143.3.
UniGeneiHs.515872.

Genome annotation databases

EnsembliENST00000323703; ENSP00000318373; ENSG00000163795. [Q8N8E2-1]
ENST00000407879; ENSP00000384874; ENSG00000163795. [Q8N8E2-2]
GeneIDi130557.
KEGGihsa:130557.
UCSCiuc002rkj.4. human. [Q8N8E2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056765 mRNA. Translation: BAB71274.1. Different initiation.
AK096933 mRNA. Translation: BAC04903.1.
AK290690 mRNA. Translation: BAF83379.1.
AB075875 mRNA. Translation: BAD38657.1.
AL833946 mRNA. Translation: CAD38801.1.
AC074117 Genomic DNA. Translation: AAY14845.1.
CH471053 Genomic DNA. Translation: EAX00583.1.
BC040650 mRNA. Translation: AAH40650.1.
BC052282 mRNA. Translation: AAH52282.1.
CCDSiCCDS1751.1. [Q8N8E2-1]
CCDS56114.1. [Q8N8E2-2]
RefSeqiNP_001188388.1. NM_001201459.1. [Q8N8E2-2]
NP_653232.3. NM_144631.5. [Q8N8E2-1]
XP_005264199.1. XM_005264142.2. [Q8N8E2-2]
XP_005264200.1. XM_005264143.3.
UniGeneiHs.515872.

3D structure databases

ProteinModelPortaliQ8N8E2.
SMRiQ8N8E2. Positions 167-240, 358-494.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126240. 5 interactions.
IntActiQ8N8E2. 1 interaction.
STRINGi9606.ENSP00000318373.

PTM databases

iPTMnetiQ8N8E2.
PhosphoSiteiQ8N8E2.

Polymorphism and mutation databases

BioMutaiZNF513.
DMDMi212276483.

Proteomic databases

PaxDbiQ8N8E2.
PeptideAtlasiQ8N8E2.
PRIDEiQ8N8E2.

Protocols and materials databases

DNASUi130557.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323703; ENSP00000318373; ENSG00000163795. [Q8N8E2-1]
ENST00000407879; ENSP00000384874; ENSG00000163795. [Q8N8E2-2]
GeneIDi130557.
KEGGihsa:130557.
UCSCiuc002rkj.4. human. [Q8N8E2-1]

Organism-specific databases

CTDi130557.
GeneCardsiZNF513.
GeneReviewsiZNF513.
HGNCiHGNC:26498. ZNF513.
HPAiHPA051493.
MalaCardsiZNF513.
MIMi613598. gene.
613617. phenotype.
neXtProtiNX_Q8N8E2.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134872812.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00810000125424.
HOVERGENiHBG097012.
InParanoidiQ8N8E2.
OMAiTSFLPDC.
OrthoDBiEOG091G05JD.
PhylomeDBiQ8N8E2.
TreeFamiTF350015.

Miscellaneous databases

ChiTaRSiZNF513. human.
GenomeRNAii130557.
PROiQ8N8E2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163795.
CleanExiHS_ZNF513.
ExpressionAtlasiQ8N8E2. baseline and differential.
GenevisibleiQ8N8E2. HS.

Family and domain databases

Gene3Di3.30.160.60. 8 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN513_HUMAN
AccessioniPrimary (citable) accession number: Q8N8E2
Secondary accession number(s): A8K3S5
, B7WP71, Q3ZCU1, Q68CJ1, Q86UZ3, Q8NDL8, Q96ML3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: November 4, 2008
Last modified: September 7, 2016
This is version 115 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. 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.