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Protein

Zinc finger protein 480

Gene

ZNF480

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in transcriptional regulation as an activator.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri203 – 225C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri231 – 253C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri259 – 281C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri287 – 309C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri315 – 337C2H2-type 5; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri343 – 365C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri371 – 393C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri399 – 421C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri427 – 449C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri455 – 477C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri483 – 505C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri511 – 533C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170999-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 480
Gene namesi
Name:ZNF480
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:23305. ZNF480.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi147657.
OpenTargetsiENSG00000198464.
PharmGKBiPA134876563.

Polymorphism and mutation databases

BioMutaiZNF480.
DMDMi296453042.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000476071 – 535Zinc finger protein 480Add BLAST535

Proteomic databases

EPDiQ8WV37.
MaxQBiQ8WV37.
PaxDbiQ8WV37.
PeptideAtlasiQ8WV37.
PRIDEiQ8WV37.

PTM databases

iPTMnetiQ8WV37.
PhosphoSitePlusiQ8WV37.

Expressioni

Tissue specificityi

Expressed in fetal heart, heart, skeletal muscle, pancreas and placenta.1 Publication

Developmental stagei

Expressed in heart as early as the 24th week of gestation.1 Publication

Gene expression databases

BgeeiENSG00000198464.
CleanExiHS_ZNF480.
ExpressionAtlasiQ8WV37. baseline and differential.
GenevisibleiQ8WV37. HS.

Organism-specific databases

HPAiHPA042218.

Interactioni

Protein-protein interaction databases

BioGridi127068. 1 interactor.
IntActiQ8WV37. 2 interactors.
MINTiMINT-8417743.
STRINGi9606.ENSP00000417424.

Structurei

3D structure databases

ProteinModelPortaliQ8WV37.
SMRiQ8WV37.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 98KRABPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Contains 12 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri203 – 225C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri231 – 253C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri259 – 281C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri287 – 309C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri315 – 337C2H2-type 5; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri343 – 365C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri371 – 393C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri399 – 421C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri427 – 449C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri455 – 477C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri483 – 505C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri511 – 533C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00690000102079.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ8WV37.
KOiK09228.
OMAiANHWRIY.
OrthoDBiEOG091G02KC.
PhylomeDBiQ8WV37.
TreeFamiTF341892.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 12 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 5 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 12 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 12 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8WV37-1) [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
MLCDEKAQKR RKRKAKESGM ALPQGHLTFR DVAIEFSQAE WKCLDPAQRA
60 70 80 90 100
LYKDVMLENY RNLVSLGISL PDLNINSMLE QRREPWSGES EVKIAKNSDG
110 120 130 140 150
RECIKGVNTG SSYALGSNAE DKPIKKQLGV SFHLHLSELE LFPDERVING
160 170 180 190 200
CNQVENFINH SSSVSCLQEM SSSVKTPIFN RNDFDDSSFL PQEQKVHLRE
210 220 230 240 250
KPYECNEHSK VFRVSSSLTK HQVIHTVEKP YKCNSCGKVF SRNSHLAEHC
260 270 280 290 300
RIHTGEKPYK CNVCGKVFSY NSNFARHQRI HTREKPYECN ECGKVFSNNS
310 320 330 340 350
YLARHQRIHA EEKPYKCNEC GKGFSHKSSL ANHWRIYTGE KPYKCDECGK
360 370 380 390 400
AFYRIALLVR HQKIHTGEKP YKCNECGKVF IQNSHLAQHW RIHTGEKPYK
410 420 430 440 450
CNECGKVFNQ LSNLARHRRI HTGEKPYKCN ECGKAFSEYS GLSAHLVIHT
460 470 480 490 500
GEKPYKCSEC GKAFRHKLSL TNHQRIHTGE RPYKCNECGK VFNRIAHLAR
510 520 530
HRKIHTGEKP YKCNECGKAF SRISYLAQHW TIHMG
Length:535
Mass (Da):61,708
Last modified:May 18, 2010 - v2
Checksum:i444D121FE8B9C44C
GO
Isoform 2 (identifier: Q8WV37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.

Note: No experimental confirmation available.
Show »
Length:458
Mass (Da):52,875
Checksum:iFD4C0D9F42F7DFA3
GO
Isoform 3 (identifier: Q8WV37-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-169: Missing.

Note: No experimental confirmation available.
Show »
Length:366
Mass (Da):42,646
Checksum:iE1CF4FD879356BE6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033569177P → S.Corresponds to variant rs13343641dbSNPEnsembl.1
Natural variantiVAR_035584361H → Q in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0162151 – 169Missing in isoform 3. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_0162141 – 77Missing in isoform 2. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY512662 mRNA. Translation: AAR97581.1.
AK096442 mRNA. Translation: BAC04792.1.
AK096559 mRNA. Translation: BAC04817.1.
AL832560 mRNA. Translation: CAI46140.1.
AC010320 Genomic DNA. No translation available.
BC018783 mRNA. Translation: AAH18783.1.
BC065503 mRNA. Translation: AAH65503.1.
CCDSiCCDS12850.2. [Q8WV37-1]
CCDS74437.1. [Q8WV37-2]
RefSeqiNP_001284553.1. NM_001297624.1.
NP_001284554.1. NM_001297625.1. [Q8WV37-2]
NP_653285.2. NM_144684.3. [Q8WV37-1]
XP_011524767.1. XM_011526465.2. [Q8WV37-1]
UniGeneiHs.729317.

Genome annotation databases

EnsembliENST00000335090; ENSP00000335670; ENSG00000198464. [Q8WV37-2]
ENST00000468240; ENSP00000417424; ENSG00000198464. [Q8WV37-1]
ENST00000595962; ENSP00000471754; ENSG00000198464. [Q8WV37-1]
GeneIDi147657.
KEGGihsa:147657.
UCSCiuc010ydl.3. human. [Q8WV37-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY512662 mRNA. Translation: AAR97581.1.
AK096442 mRNA. Translation: BAC04792.1.
AK096559 mRNA. Translation: BAC04817.1.
AL832560 mRNA. Translation: CAI46140.1.
AC010320 Genomic DNA. No translation available.
BC018783 mRNA. Translation: AAH18783.1.
BC065503 mRNA. Translation: AAH65503.1.
CCDSiCCDS12850.2. [Q8WV37-1]
CCDS74437.1. [Q8WV37-2]
RefSeqiNP_001284553.1. NM_001297624.1.
NP_001284554.1. NM_001297625.1. [Q8WV37-2]
NP_653285.2. NM_144684.3. [Q8WV37-1]
XP_011524767.1. XM_011526465.2. [Q8WV37-1]
UniGeneiHs.729317.

3D structure databases

ProteinModelPortaliQ8WV37.
SMRiQ8WV37.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127068. 1 interactor.
IntActiQ8WV37. 2 interactors.
MINTiMINT-8417743.
STRINGi9606.ENSP00000417424.

PTM databases

iPTMnetiQ8WV37.
PhosphoSitePlusiQ8WV37.

Polymorphism and mutation databases

BioMutaiZNF480.
DMDMi296453042.

Proteomic databases

EPDiQ8WV37.
MaxQBiQ8WV37.
PaxDbiQ8WV37.
PeptideAtlasiQ8WV37.
PRIDEiQ8WV37.

Protocols and materials databases

DNASUi147657.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335090; ENSP00000335670; ENSG00000198464. [Q8WV37-2]
ENST00000468240; ENSP00000417424; ENSG00000198464. [Q8WV37-1]
ENST00000595962; ENSP00000471754; ENSG00000198464. [Q8WV37-1]
GeneIDi147657.
KEGGihsa:147657.
UCSCiuc010ydl.3. human. [Q8WV37-1]

Organism-specific databases

CTDi147657.
DisGeNETi147657.
GeneCardsiZNF480.
HGNCiHGNC:23305. ZNF480.
HPAiHPA042218.
MIMi613910. gene.
neXtProtiNX_Q8WV37.
OpenTargetsiENSG00000198464.
PharmGKBiPA134876563.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00690000102079.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ8WV37.
KOiK09228.
OMAiANHWRIY.
OrthoDBiEOG091G02KC.
PhylomeDBiQ8WV37.
TreeFamiTF341892.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170999-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

ChiTaRSiZNF480. human.
GenomeRNAii147657.
PROiQ8WV37.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198464.
CleanExiHS_ZNF480.
ExpressionAtlasiQ8WV37. baseline and differential.
GenevisibleiQ8WV37. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 12 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 5 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 12 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 12 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN480_HUMAN
AccessioniPrimary (citable) accession number: Q8WV37
Secondary accession number(s): Q5JPG9, Q6P0Q4, Q8N1M5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 131 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

Caution

It is uncertain whether Met-1 or Met-20 is the initiator. A 'GT' insertion (rs59214675) allows to extend the sequence in the N-terminus. The majority of mRNAs do not have this insertion and the corresponding protein sequences start at Met-20.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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.