ERCC6L
DNA excision repair protein ERCC-6-like
Also known as: ERC6L_HUMAN, FLJ20105, PICH, RAD26L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2NKX8
- Gene
- ERCC6L
- Ensembl
- ENSG00000186871
- Chromosome
- X
- Canonical length
- 1250 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
OverviewNCBI Gene
This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
1250 residues, UniProt reviewed canonical sequence.
>Q2NKX8|ERCC6L
1 MEASRRFPEA EALSPEQAAH YLRYVKEAKE ATKNGDLEEA FKLFNLAKDI FPNEKVLSRI
61 QKIQEALEEL AEQGDDEFTD VCNSGLLLYR ELHNQLFEHQ KEGIAFLYSL YRDGRKGGIL
121 ADDMGLGKTV QIIAFLSGMF DASLVNHVLL IMPTNLINTW VKEFIKWTPG MRVKTFHGPS
181 KDERTRNLNR IQQRNGVIIT TYQMLINNWQ QLSSFRGQEF VWDYVILDEA HKIKTSSTKS
241 AICARAIPAS NRLLLTGTPI QNNLQELWSL FDFACQGSLL GTLKTFKMEY ENPITRAREK
301 DATPGEKALG FKISENLMAI IKPYFLRRTK EDVQKKKSSN PEARLNEKNP DVDAICEMPS
361 LSRKNDLIIW IRLVPLQEEI YRKFVSLDHI KELLMETRSP LAELGVLKKL CDHPRLLSAR
421 ACCLLNLGTF SAQDGNEGED SPDVDHIDQV TDDTLMEESG KMIFLMDLLK RLRDEGHQTL
481 VFSQSRQILN IIERLLKNRH FKTLRIDGTV THLLEREKRI NLFQQNKDYS VFLLTTQVGG
541 VGLTLTAATR VVIFDPSWNP ATDAQAVDRV YRIGQKENVV VYRLITCGTV EEKIYRRQVF
601 KDSLIRQTTG EKKNPFRYFS KQELRELFTI EDLQNSVTQL QLQSLHAAQR KSDIKLDEHI
661 AYLQSLGIAG ISDHDLMYTC DLSVKEELDV VEESHYIQQR VQKAQFLVEF ESQNKEFLME
721 QQRTRNEGAW LREPVFPSST KKKCPKLNKP QPQPSPLLST HHTQEEDISS KMASVVIDDL
781 PKEGEKQDLS SIKVNVTTLQ DGKGTGSADS IATLPKGFGS VEELCTNSSL GMEKSFATKN
841 EAVQKETLQE GPKQEALQED PLESFNYVLS KSTKADIGPN LDQLKDDEIL RHCNPWPIIS
901 ITNESQNAES NVSIIEIADD LSASHSALQD AQASEAKLEE EPSASSPQYA CDFNLFLEDS
961 ADNRQNFSSQ SLEHVEKENS LCGSAPNSRA GFVHSKTCLS WEFSEKDDEP EEVVVKAKIR
1021 SKARRIVSDG EDEDDSFKDT SSINPFNTSL FQFSSVKQFD ASTPKNDISP PGRFFSSQIP
1081 SSVNKSMNSR RSLASRRSLI NMVLDHVEDM EERLDDSSEA KGPEDYPEEG VEESSGEASK
1141 YTEEDPSGET LSSENKSSWL MTSKPSALAQ ETSLGAPEPL SGEQLVGSPQ DKAAEATNDY
1201 ETLVKRGKEL KECGKIQEAL NCLVKALDIK SADPEVMLLT LSLYKQLNNNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ERCC6L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 3.3 nTPM
Expression across tissuesHPA
Tissue
- thymus: 3.3 nTPM
- bone marrow: 3 nTPM
- tonsil: 2.5 nTPM
- lymph node: 2.2 nTPM
- appendix: 1.2 nTPM
- esophagus: 1.1 nTPM
Single-cell type
- cardiomyocytes: 32 nCPM
- epicardial cells: 32 nCPM
- erythrocyte progenitors: 24 nCPM
- fibro-adipogenic progenitors: 17 nCPM
- adipocytes: 15 nCPM
- monocyte progenitors: 15 nCPM
Immune cell
- NK-cell: 1.7 nTPM
- naive CD8 T-cell: 0.4 nTPM
- T-reg: 0.4 nTPM
- eosinophil: 0.2 nTPM
- MAIT T-cell: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
Brain region
- cerebellum: 3.3 nTPM
- white matter: 2.8 nTPM
- basal ganglia: 2.1 nTPM
- cerebral cortex: 2.1 nTPM
- thalamus: 2.1 nTPM
- amygdala: 1.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.21
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.89
- DepMap mean gene effect
- -0.27
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SNF2, N-terminal domain
- Helicase, C-terminal domain-like
- Helicase superfamily 1/2, ATP-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- SNF2-like, N-terminal domain superfamily
- SNF2/RAD5-like, C-terminal helicase domain
- SNF2/RAD54 Helicase and DNA Repair
- SNF2-related domain
- Helicase conserved C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ERCC6L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ERCC6L as an antibody target. Whether an autoantibody or antibody against ERCC6L could matter depends on whether native ERCC6L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ERCC6L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ERCC6L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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