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Protein

Zinc finger protein 680

Gene

ZNF680

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

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri182 – 204C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri210 – 232C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri238 – 260C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri266 – 288C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 344C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 400C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri406 – 428C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri434 – 456C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri462 – 484C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 680
Gene namesi
Name:ZNF680
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000173041.11.
HGNCiHGNC:26897. ZNF680.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi340252.
OpenTargetsiENSG00000173041.
PharmGKBiPA142670481.

Polymorphism and mutation databases

BioMutaiZNF680.
DMDMi116242865.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002340001 – 530Zinc finger protein 680Add BLAST530

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki264Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ8NEM1.
PaxDbiQ8NEM1.
PeptideAtlasiQ8NEM1.
PRIDEiQ8NEM1.

PTM databases

iPTMnetiQ8NEM1.
PhosphoSitePlusiQ8NEM1.

Expressioni

Gene expression databases

BgeeiENSG00000173041.
CleanExiHS_ZNF680.
GenevisibleiQ8NEM1. HS.

Organism-specific databases

HPAiHPA003173.

Interactioni

Protein-protein interaction databases

IntActiQ8NEM1. 1 interactor.
STRINGi9606.ENSP00000309330.

Structurei

3D structure databases

ProteinModelPortaliQ8NEM1.
SMRiQ8NEM1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 84KRABPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri182 – 204C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri210 – 232C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri238 – 260C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri266 – 288C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 344C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 400C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri406 – 428C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri434 – 456C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri462 – 484C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00890000139354.
HOGENOMiHOG000231475.
HOVERGENiHBG018163.
InParanoidiQ8NEM1.
KOiK09228.
OMAiNWFSELI.
OrthoDBiEOG091G02KC.
PhylomeDBiQ8NEM1.
TreeFamiTF342117.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR001909. KRAB.
IPR036051. KRAB_dom_sf.
IPR036236. Znf_C2H2_sf.
IPR013087. Znf_C2H2_type.
IPR013083. Znf_RING/FYVE/PHD.
PfamiView protein in Pfam
PF01352. KRAB. 1 hit.
SMARTiView protein in SMART
SM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 12 hits.
SUPFAMiSSF109640. SSF109640. 1 hit.
SSF57667. SSF57667. 7 hits.
PROSITEiView protein in PROSITE
PS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 12 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NEM1-1) [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
MPGPPGSLEM GPLTFRDVAI EFSLEEWQCL DTAQRNLYRK VMFENYRNLV
60 70 80 90 100
FLGIAVSKPH LITCLEQGKE PWNRKRQEMV AKPPVIYSHF TEDLWPEHSI
110 120 130 140 150
KDSFQKVILR GYGKCGHENL QLRISCKSVD ESKVFKEGYN ELNQCLRTTQ
160 170 180 190 200
SKIFQCDKYV KVFHKFSNSN SHKKRNTGKK VFKCKECGKS FCMLSHLTQH
210 220 230 240 250
IRIHTRENSY KCEECGKVLN WFSELIKHKG IHMGEKPYKC EECGKAFNQS
260 270 280 290 300
STLIKHKKIH IEEKPFKCEE CGKAFSLFSI LSKHKIIHTG DKPYKCDECH
310 320 330 340 350
KAFNWFATLT NHKRIHTGEK PFKCEECGKD FNQFSNLTKH KKIHTGEKPY
360 370 380 390 400
KCEECGKAFN QFANLTRHKK IHTGEKSYKC EECGKAFIQS SNLTEHMRIH
410 420 430 440 450
TGEKPYKCEE CGKAFNGCSS LTRHKRIHTR ENTYKCEECG KGFTLFSTLT
460 470 480 490 500
NHKVIHTGEK SYKCDECGNV FNWPATLANH KRIHAREKPY KCEECGKAFN
510 520 530
RSSHLTRHKK IHTGEKLYKP EKCDNNFDNT
Length:530
Mass (Da):61,798
Last modified:October 17, 2006 - v2
Checksum:iBB9AC6FFA50B0A04
GO
Isoform 2 (identifier: Q8NEM1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-123: VIYSHFTEDL...KCGHENLQLR → ESYCVAQADL...RNNPLCQATM
     124-530: Missing.

Note: No experimental confirmation available.
Show »
Length:123
Mass (Da):14,143
Checksum:i016D88839AC1C1FC
GO

Sequence cautioni

Q8NEM1: The sequence BAC11286 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027892132S → F. Corresponds to variant dbSNP:rs11768951Ensembl.1
Natural variantiVAR_027893330D → G1 PublicationCorresponds to variant dbSNP:rs17856885Ensembl.1
Natural variantiVAR_027894525N → D1 PublicationCorresponds to variant dbSNP:rs17852813Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04311485 – 123VIYSH…NLQLR → ESYCVAQADLELLVSSYLTA LASLKMWDYRNNPLCQATM in isoform 2. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_043115124 – 530Missing in isoform 2. 1 PublicationAdd BLAST407

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074911 mRNA. Translation: BAC11286.1. Different initiation.
AK122937 mRNA. Translation: BAG53806.1.
AK131240 mRNA. Translation: BAD18422.1.
AC016769 Genomic DNA. No translation available.
CH471204 Genomic DNA. Translation: EAW77970.1.
CH471204 Genomic DNA. Translation: EAW77971.1.
BC030700 mRNA. Translation: AAH30700.1.
CCDSiCCDS34644.1. [Q8NEM1-1]
CCDS47594.1. [Q8NEM1-2]
RefSeqiNP_001123494.1. NM_001130022.1. [Q8NEM1-2]
NP_848653.2. NM_178558.4. [Q8NEM1-1]
XP_016867615.1. XM_017012126.1.
XP_016867616.1. XM_017012127.1.
XP_016867617.1. XM_017012128.1.
UniGeneiHs.520886.

Genome annotation databases

EnsembliENST00000309683; ENSP00000309330; ENSG00000173041. [Q8NEM1-1]
ENST00000447137; ENSP00000393506; ENSG00000173041. [Q8NEM1-2]
GeneIDi340252.
KEGGihsa:340252.
UCSCiuc003tta.3. human. [Q8NEM1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZN680_HUMAN
AccessioniPrimary (citable) accession number: Q8NEM1
Secondary accession number(s): B3KVJ4, Q6ZNF3, Q8NC79
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 17, 2006
Last modified: October 25, 2017
This is version 136 of the entry and version 2 of the sequence. See 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 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families