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Protein

Zinc finger protein 687

Gene

ZNF687

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

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri533 – 552C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST20
Zinc fingeri705 – 727C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri764 – 787C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri792 – 815C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri827 – 849C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri858 – 881C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri963 – 986C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri993 – 1016C2H2-type 8PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1135 – 1158C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1200 – 1222C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 687
Gene namesi
Name:ZNF687
Synonyms:KIAA1441
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29277. ZNF687.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Paget disease of bone 6 (PDB6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone.
See also OMIM:616833
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076534242S → I in PDB6; unknown pathological significance. 1 Publication1
Natural variantiVAR_076535937P → R in PDB6; enhances nuclear localization; increases expression levels; R-937 containing osteoclasts induced by treatment of peripheral blood mononuclear cells with CSF1 and TNFSF11 exhibit a greater number of nuclei, as well as a larger surface area than did those from the control individuals. 1 PublicationCorresponds to variant rs148402804dbSNPEnsembl.1

Organism-specific databases

DisGeNETi57592.
MIMi616833. phenotype.
OpenTargetsiENSG00000143373.
PharmGKBiPA142670486.

Polymorphism and mutation databases

BioMutaiZNF687.
DMDMi74759771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002340051 – 1237Zinc finger protein 687Add BLAST1237

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei102PhosphoserineBy similarity1
Modified residuei129PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Modified residuei148PhosphothreonineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei251PhosphoserineCombined sources1
Modified residuei253PhosphoserineCombined sources1
Modified residuei266PhosphoserineCombined sources1
Modified residuei271PhosphoserineCombined sources1
Cross-linki285Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki336Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei374PhosphoserineCombined sources1
Modified residuei377PhosphothreonineCombined sources1
Modified residuei433PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei900PhosphothreonineCombined sources1
Modified residuei1057PhosphoserineCombined sources1
Modified residuei1060Omega-N-methylarginineBy similarity1
Modified residuei1082PhosphoserineCombined sources1
Modified residuei1083PhosphoserineCombined sources1
Modified residuei1085PhosphoserineCombined sources1
Modified residuei1101Omega-N-methylarginineBy similarity1
Modified residuei1106PhosphoserineCombined sources1
Modified residuei1118PhosphoserineCombined sources1
Modified residuei1184PhosphoserineBy similarity1
Modified residuei1191PhosphoserineCombined sources1
Modified residuei1211PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8N1G0.
MaxQBiQ8N1G0.
PaxDbiQ8N1G0.
PeptideAtlasiQ8N1G0.
PRIDEiQ8N1G0.

PTM databases

iPTMnetiQ8N1G0.
PhosphoSitePlusiQ8N1G0.

Expressioni

Tissue specificityi

Widely expressed with highest levels in obvary, muscle, blood and lung.1 Publication

Developmental stagei

Up-regulated during osteoclastogenesis induced by treatment of peripheral blood mononuclear cells with CSF1 and TNFSF11, as well as during osteoblastogenesis.1 Publication

Gene expression databases

BgeeiENSG00000143373.
CleanExiHS_ZNF687.
ExpressionAtlasiQ8N1G0. baseline and differential.
GenevisibleiQ8N1G0. HS.

Organism-specific databases

HPAiHPA021193.
HPA053052.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TSPYL2Q9H2G43EBI-1210558,EBI-947459

Protein-protein interaction databases

BioGridi121643. 39 interactors.
IntActiQ8N1G0. 23 interactors.
STRINGi9606.ENSP00000319829.

Structurei

3D structure databases

ProteinModelPortaliQ8N1G0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi130 – 305Pro-richAdd BLAST176
Compositional biasi322 – 325Poly-Ser4
Compositional biasi922 – 926Poly-Ser5
Compositional biasi927 – 930Poly-Glu4
Compositional biasi955 – 962Poly-Gly8

Sequence similaritiesi

Contains 10 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri533 – 552C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST20
Zinc fingeri705 – 727C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri764 – 787C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri792 – 815C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri827 – 849C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri858 – 881C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri963 – 986C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri993 – 1016C2H2-type 8PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1135 – 1158C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1200 – 1222C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063261.
HOGENOMiHOG000010306.
HOVERGENiHBG062228.
InParanoidiQ8N1G0.
OMAiFKQSPGH.
OrthoDBiEOG091G0AA1.
PhylomeDBiQ8N1G0.
TreeFamiTF329009.

Family and domain databases

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamiPF16622. zf-C2H2_11. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 14 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N1G0-1) [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
MGDMKTPDFD DLLAAFDIPD IDANEAIHSG PEENEGPGGP GKPEPGVGSE
60 70 80 90 100
SEDTAAASAG DGPGVPAQAS DHGLPPPDIS VVSVIVKNTV CPEQSEALAG
110 120 130 140 150
GSAGDGAQAA GVTKEGPVGP HRMQNGFGSP EPSLPGTPHS PAPPSGGTWK
160 170 180 190 200
EKGMEGKTPL DLFAHFGPEP GDHSDPLPPS APSPTREGAL TPPPFPSSFE
210 220 230 240 250
LAQENGPGMQ PPVSSPPLGA LKQESCSPHH PQVLAQQGSG SSPKATDIPA
260 270 280 290 300
SASPPPVAGV PFFKQSPGHQ SPLASPKVPV CQPLKEEDDD EGPVDKSSPG
310 320 330 340 350
SPQSPSSGAE AADEDSNDSP ASSSSRPLKV RIKTIKTSCG NITRTVTQVP
360 370 380 390 400
SDPDPPAPLA EGAFLAEASL LKLSPATPTS EGPKVVSVQL GDGTRLKGTV
410 420 430 440 450
LPVATIQNAS TAMLMAASVA RKAVVLPGGT ATSPKMIAKN VLGLVPQALP
460 470 480 490 500
KADGRAGLGT GGQKVNGASV VMVQPSKTAT GPSTGGGTVI SRTQSSLVEA
510 520 530 540 550
FNKILNSKNL LPAYRPNLSP PAEAGLALPP TGYRCLECGD AFSLEKSLAR
560 570 580 590 600
HYDRRSMRIE VTCNHCARRL VFFNKCSLLL HAREHKDKGL VMQCSHLVMR
610 620 630 640 650
PVALDQMVGQ PDITPLLPVA VPPVSGPLAL PALGKGEGAI TSSAITTVAA
660 670 680 690 700
EAPVLPLSTE PPAAPATSAY TCFRCLECKE QCRDKAGMAA HFQQLGPPAP
710 720 730 740 750
GATSNVCPTC PMMLPNRCSF SAHQRMHKNR PPHVCPECGG NFLQANFQTH
760 770 780 790 800
LREACLHVSR RVGYRCPSCS VVFGGVNSIK SHIQTSHCEV FHKCPICPMA
810 820 830 840 850
FKSGPSAHAH LYSQHPSFQT QQAKLIYKCA MCDTVFTHKP LLSSHFDQHL
860 870 880 890 900
LPQRVSVFKC PSCPLLFAQK RTMLEHLKNT HQSGRLEETA GKGAGGALLT
910 920 930 940 950
PKTEPEELAV SQGGAAPATE ESSSSSEEEE VPSSPEPPRP AKRPRRELGS
960 970 980 990 1000
KGLKGGGGGP GGWTCGLCHS WFPERDEYVA HMKKEHGKSV KKFPCRLCER
1010 1020 1030 1040 1050
SFCSAPSLRR HVRVNHEGIK RVYPCRYCTE GKRTFSSRLI LEKHVQVRHG
1060 1070 1080 1090 1100
LQLGAQSPGR GTTLARGSSA RAQGPGRKRR QSSDSCSEEP DSTTPPAKSP
1110 1120 1130 1140 1150
RGGPGSGGHG PLRYRSSSST EQSLMMGLRV EDGAQQCLDC GLCFASPGSL
1160 1170 1180 1190 1200
SRHRFISHKK RRGVGKASAL GLGDGEEEAP PSRSDPDGGD SPLPASGGPL
1210 1220 1230
TCKVCGKSCD SPLNLKTHFR THGMAFIRAR QGAVGDN
Length:1,237
Mass (Da):129,529
Last modified:October 1, 2002 - v1
Checksum:iD2DC99AA2AF44270
GO
Isoform 2 (identifier: Q8N1G0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1027-1103: YCTEGKRTFS...TPPAKSPRGG → SKGPGLRAVP...GARSETPPVF
     1104-1237: Missing.

Note: No experimental confirmation available.
Show »
Length:1,103
Mass (Da):115,571
Checksum:i3FDC8E46C8F47A9D
GO

Sequence cautioni

The sequence BAA92679 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14406 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH18162 differs from that shown. Reason: Frameshift at position 1062.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti331R → W in CAH18162 (PubMed:17974005).Curated1
Sequence conflicti439K → E in BAB14406 (PubMed:14702039).Curated1
Sequence conflicti515R → G in BAB14406 (PubMed:14702039).Curated1
Sequence conflicti639A → V in CAH18162 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076534242S → I in PDB6; unknown pathological significance. 1 Publication1
Natural variantiVAR_052894259G → E.Corresponds to variant rs3748545dbSNPEnsembl.1
Natural variantiVAR_052895344R → T.Corresponds to variant rs12045766dbSNPEnsembl.1
Natural variantiVAR_076535937P → R in PDB6; enhances nuclear localization; increases expression levels; R-937 containing osteoclasts induced by treatment of peripheral blood mononuclear cells with CSF1 and TNFSF11 exhibit a greater number of nuclei, as well as a larger surface area than did those from the control individuals. 1 PublicationCorresponds to variant rs148402804dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0181681027 – 1103YCTEG…SPRGG → SKGPGLRAVPLLPSCPLPFQ VLHRGKTHLQQPPDPRETCP GPARLAAWGPVPWPGDHLGS GFQCQSPGARSETPPVF in isoform 2. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_0181691104 – 1237Missing in isoform 2. 1 PublicationAdd BLAST134

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037862 mRNA. Translation: BAA92679.1. Different initiation.
CR749307 mRNA. Translation: CAH18162.1. Frameshift.
AL391069 Genomic DNA. Translation: CAH70322.1.
CH471121 Genomic DNA. Translation: EAW53452.1.
CH471121 Genomic DNA. Translation: EAW53453.1.
CH471121 Genomic DNA. Translation: EAW53454.1.
BC032463 mRNA. Translation: AAH32463.1.
AK023105 mRNA. Translation: BAB14406.1. Different initiation.
CCDSiCCDS992.1. [Q8N1G0-1]
RefSeqiNP_001291692.1. NM_001304763.1. [Q8N1G0-1]
NP_001291693.1. NM_001304764.1. [Q8N1G0-1]
NP_065883.1. NM_020832.2. [Q8N1G0-1]
XP_011508114.1. XM_011509812.2. [Q8N1G0-1]
XP_011508115.1. XM_011509813.2. [Q8N1G0-1]
UniGeneiHs.186756.
Hs.225083.

Genome annotation databases

EnsembliENST00000324048; ENSP00000319829; ENSG00000143373. [Q8N1G0-1]
ENST00000336715; ENSP00000336620; ENSG00000143373. [Q8N1G0-1]
GeneIDi57592.
KEGGihsa:57592.
UCSCiuc001exq.4. human. [Q8N1G0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037862 mRNA. Translation: BAA92679.1. Different initiation.
CR749307 mRNA. Translation: CAH18162.1. Frameshift.
AL391069 Genomic DNA. Translation: CAH70322.1.
CH471121 Genomic DNA. Translation: EAW53452.1.
CH471121 Genomic DNA. Translation: EAW53453.1.
CH471121 Genomic DNA. Translation: EAW53454.1.
BC032463 mRNA. Translation: AAH32463.1.
AK023105 mRNA. Translation: BAB14406.1. Different initiation.
CCDSiCCDS992.1. [Q8N1G0-1]
RefSeqiNP_001291692.1. NM_001304763.1. [Q8N1G0-1]
NP_001291693.1. NM_001304764.1. [Q8N1G0-1]
NP_065883.1. NM_020832.2. [Q8N1G0-1]
XP_011508114.1. XM_011509812.2. [Q8N1G0-1]
XP_011508115.1. XM_011509813.2. [Q8N1G0-1]
UniGeneiHs.186756.
Hs.225083.

3D structure databases

ProteinModelPortaliQ8N1G0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121643. 39 interactors.
IntActiQ8N1G0. 23 interactors.
STRINGi9606.ENSP00000319829.

PTM databases

iPTMnetiQ8N1G0.
PhosphoSitePlusiQ8N1G0.

Polymorphism and mutation databases

BioMutaiZNF687.
DMDMi74759771.

Proteomic databases

EPDiQ8N1G0.
MaxQBiQ8N1G0.
PaxDbiQ8N1G0.
PeptideAtlasiQ8N1G0.
PRIDEiQ8N1G0.

Protocols and materials databases

DNASUi57592.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324048; ENSP00000319829; ENSG00000143373. [Q8N1G0-1]
ENST00000336715; ENSP00000336620; ENSG00000143373. [Q8N1G0-1]
GeneIDi57592.
KEGGihsa:57592.
UCSCiuc001exq.4. human. [Q8N1G0-1]

Organism-specific databases

CTDi57592.
DisGeNETi57592.
GeneCardsiZNF687.
HGNCiHGNC:29277. ZNF687.
HPAiHPA021193.
HPA053052.
MIMi610568. gene.
616833. phenotype.
neXtProtiNX_Q8N1G0.
OpenTargetsiENSG00000143373.
PharmGKBiPA142670486.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063261.
HOGENOMiHOG000010306.
HOVERGENiHBG062228.
InParanoidiQ8N1G0.
OMAiFKQSPGH.
OrthoDBiEOG091G0AA1.
PhylomeDBiQ8N1G0.
TreeFamiTF329009.

Miscellaneous databases

ChiTaRSiZNF687. human.
GeneWikiiZNF687.
GenomeRNAii57592.
PROiQ8N1G0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143373.
CleanExiHS_ZNF687.
ExpressionAtlasiQ8N1G0. baseline and differential.
GenevisibleiQ8N1G0. HS.

Family and domain databases

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamiPF16622. zf-C2H2_11. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 14 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN687_HUMAN
AccessioniPrimary (citable) accession number: Q8N1G0
Secondary accession number(s): D3DV17
, Q68DQ8, Q9H937, Q9P2A7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 137 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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.