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UniProtKB - Q2NKX8 (ERC6L_HUMAN)

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Protein

DNA excision repair protein ERCC-6-like

Gene

ERCC6L

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

Functioni

DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin. Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi122 – 129ATPCurated8

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processCell cycle, Cell division, Mitosis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-68877. Mitotic Prometaphase.
SIGNORiQ2NKX8.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA excision repair protein ERCC-6-like (EC:3.6.4.12)
Alternative name(s):
ATP-dependent helicase ERCC6-like
PLK1-interacting checkpoint helicase
Tumor antigen BJ-HCC-15
Gene namesi
Name:ERCC6L
Synonyms:PICH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:20794. ERCC6L.

Subcellular locationi

  • Chromosome › centromere
  • Chromosome › centromere › kinetochore

    • Note: Localizes to kinetochores, inner centromeres and thin threads connecting separating chromosomes even during anaphase. In prometaphase cells, it mostly concentrates in between kinetochores. In metaphase, it localizes to numerous thin threads that stretch between sister kinetochores of the aligned chromosomes and are composed of catenated centromeric DNA. Evolution from inner centromeres to thin threads takes place in response to tension. Resolution of thin threads requires topoisomerase 2-alpha (TOP2A) after anaphase onset.

GO - Cellular componenti

  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi127 – 129GKT → AAA: Abolishes chromatin association. 1 Publication3
Mutagenesisi1063T → A: Induces a decrease in phosphorylation. 1 Publication1

Organism-specific databases

MalaCardsiERCC6L.
OpenTargetsiENSG00000186871.
PharmGKBiPA162385290.

Polymorphism and mutation databases

BioMutaiERCC6L.
DMDMi121948339.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003288311 – 1250DNA excision repair protein ERCC-6-likeAdd BLAST1250

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineCombined sources1
Modified residuei755PhosphoserineCombined sources1
Modified residuei774PhosphoserineCombined sources1
Modified residuei807PhosphoserineCombined sources1
Modified residuei810PhosphoserineCombined sources1
Modified residuei813PhosphothreonineCombined sources1
Modified residuei820PhosphoserineCombined sources1
Modified residuei969PhosphoserineCombined sources1
Modified residuei971PhosphoserineCombined sources1
Modified residuei995PhosphoserineCombined sources1
Modified residuei1004PhosphoserineBy similarity1
Modified residuei1028PhosphoserineCombined sources1
Modified residuei1063Phosphothreonine; by PLK11 Publication1
Modified residuei1069PhosphoserineCombined sources1
Modified residuei1098PhosphoserineCombined sources1
Modified residuei1118PhosphoserineBy similarity1
Modified residuei1181PhosphoserineCombined sources1
Modified residuei1188PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation by PLK1 prevents the association with chromosome arms and restricts its localization to the kinetochore-centromere region.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ2NKX8.
MaxQBiQ2NKX8.
PaxDbiQ2NKX8.
PeptideAtlasiQ2NKX8.
PRIDEiQ2NKX8.

PTM databases

iPTMnetiQ2NKX8.
PhosphoSitePlusiQ2NKX8.

Expressioni

Gene expression databases

BgeeiENSG00000186871.
CleanExiHS_ERCC6L.
ExpressionAtlasiQ2NKX8. baseline and differential.
GenevisibleiQ2NKX8. HS.

Organism-specific databases

HPAiHPA050492.

Interactioni

Subunit structurei

Interacts with PLK1, which phosphorylates it. Both proteins are mutually dependent on each other for correct subcellular localization.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120176. 27 interactors.
IntActiQ2NKX8. 14 interactors.
STRINGi9606.ENSP00000334675.

Structurei

3D structure databases

ProteinModelPortaliQ2NKX8.
SMRiQ2NKX8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati21 – 54TPR 1Add BLAST34
Domaini109 – 277Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini464 – 620Helicase C-terminalPROSITE-ProRule annotationAdd BLAST157
Repeati1200 – 1233TPR 2Add BLAST34

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi228 – 231DEAH box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG0387. Eukaryota.
ENOG410XP4Z. LUCA.
GeneTreeiENSGT00590000083118.
HOGENOMiHOG000074172.
HOVERGENiHBG107854.
InParanoidiQ2NKX8.
KOiK20093.
OMAiICEMPSL.
OrthoDBiEOG091G058Q.
PhylomeDBiQ2NKX8.
TreeFamiTF332843.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiView protein in InterPro
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
PfamiView protein in Pfam
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
SMARTiView protein in SMART
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiView protein in PROSITE
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50293. TPR_REGION. 2 hits.

Sequencei

Sequence statusi: Complete.

Q2NKX8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEASRRFPEA EALSPEQAAH YLRYVKEAKE ATKNGDLEEA FKLFNLAKDI 
        60         70         80         90        100
FPNEKVLSRI QKIQEALEEL AEQGDDEFTD VCNSGLLLYR ELHNQLFEHQ 
       110        120        130        140        150
KEGIAFLYSL YRDGRKGGIL ADDMGLGKTV QIIAFLSGMF DASLVNHVLL 
       160        170        180        190        200
IMPTNLINTW VKEFIKWTPG MRVKTFHGPS KDERTRNLNR IQQRNGVIIT 
       210        220        230        240        250
TYQMLINNWQ QLSSFRGQEF VWDYVILDEA HKIKTSSTKS AICARAIPAS 
       260        270        280        290        300
NRLLLTGTPI QNNLQELWSL FDFACQGSLL GTLKTFKMEY ENPITRAREK 
       310        320        330        340        350
DATPGEKALG FKISENLMAI IKPYFLRRTK EDVQKKKSSN PEARLNEKNP 
       360        370        380        390        400
DVDAICEMPS LSRKNDLIIW IRLVPLQEEI YRKFVSLDHI KELLMETRSP 
       410        420        430        440        450
LAELGVLKKL CDHPRLLSAR ACCLLNLGTF SAQDGNEGED SPDVDHIDQV 
       460        470        480        490        500
TDDTLMEESG KMIFLMDLLK RLRDEGHQTL VFSQSRQILN IIERLLKNRH 
       510        520        530        540        550
FKTLRIDGTV THLLEREKRI NLFQQNKDYS VFLLTTQVGG VGLTLTAATR 
       560        570        580        590        600
VVIFDPSWNP ATDAQAVDRV YRIGQKENVV VYRLITCGTV EEKIYRRQVF 
       610        620        630        640        650
KDSLIRQTTG EKKNPFRYFS KQELRELFTI EDLQNSVTQL QLQSLHAAQR 
       660        670        680        690        700
KSDIKLDEHI AYLQSLGIAG ISDHDLMYTC DLSVKEELDV VEESHYIQQR 
       710        720        730        740        750
VQKAQFLVEF ESQNKEFLME QQRTRNEGAW LREPVFPSST KKKCPKLNKP 
       760        770        780        790        800
QPQPSPLLST HHTQEEDISS KMASVVIDDL PKEGEKQDLS SIKVNVTTLQ 
       810        820        830        840        850
DGKGTGSADS IATLPKGFGS VEELCTNSSL GMEKSFATKN EAVQKETLQE 
       860        870        880        890        900
GPKQEALQED PLESFNYVLS KSTKADIGPN LDQLKDDEIL RHCNPWPIIS 
       910        920        930        940        950
ITNESQNAES NVSIIEIADD LSASHSALQD AQASEAKLEE EPSASSPQYA 
       960        970        980        990       1000
CDFNLFLEDS ADNRQNFSSQ SLEHVEKENS LCGSAPNSRA GFVHSKTCLS 
      1010       1020       1030       1040       1050
WEFSEKDDEP EEVVVKAKIR SKARRIVSDG EDEDDSFKDT SSINPFNTSL 
      1060       1070       1080       1090       1100
FQFSSVKQFD ASTPKNDISP PGRFFSSQIP SSVNKSMNSR RSLASRRSLI 
      1110       1120       1130       1140       1150
NMVLDHVEDM EERLDDSSEA KGPEDYPEEG VEESSGEASK YTEEDPSGET 
      1160       1170       1180       1190       1200
LSSENKSSWL MTSKPSALAQ ETSLGAPEPL SGEQLVGSPQ DKAAEATNDY 
      1210       1220       1230       1240       1250
ETLVKRGKEL KECGKIQEAL NCLVKALDIK SADPEVMLLT LSLYKQLNNN
Length:1,250
Mass (Da):141,103
Last modified:February 7, 2006 - v1
Checksum:iC27DB2846F07C45D
GO

Sequence cautioni

The sequence AAM82750 differs from that shown. Reason: Erroneous termination at position 803. Translated as Lys.Curated
The sequence BAA90952 differs from that shown. Reason: Erroneous termination at position 803. Translated as Lys.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti145V → M in BAC11160 (PubMed:14702039).Curated1
Sequence conflicti172R → G in BAC11160 (PubMed:14702039).Curated1
Sequence conflicti812A → T in BAA90952 (PubMed:14702039).Curated1
Sequence conflicti812A → T in AAM82750 (Ref. 4) Curated1
Sequence conflicti889I → V in BAC11160 (PubMed:14702039).Curated1
Sequence conflicti989R → K in BAA90952 (PubMed:14702039).Curated1
Sequence conflicti989R → K in AAM82750 (Ref. 4) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU069463 mRNA. Translation: ABU25227.1.
BC008808 mRNA. Translation: AAH08808.2.
BC111486 mRNA. Translation: AAI11487.1.
AK000112 mRNA. Translation: BAA90952.1. Sequence problems.
AK074719 mRNA. Translation: BAC11160.1.
AY121802 mRNA. Translation: AAM82750.1. Sequence problems.
CCDSiCCDS35329.1.
RefSeqiNP_060139.2. NM_017669.2.
UniGeneiHs.47558.

Genome annotation databases

EnsembliENST00000334463; ENSP00000334675; ENSG00000186871.
GeneIDi54821.
KEGGihsa:54821.
UCSCiuc004eaq.2. human.

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.

Entry informationi

Entry nameiERC6L_HUMAN
AccessioniPrimary (citable) accession number: Q2NKX8
Secondary accession number(s): Q8NCI1, Q96H93, Q9NXQ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: February 7, 2006
Last modified: June 7, 2017
This is version 116 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families