ERCC6L (ERCC excision repair 6 like, spindle assembly checkpoint helicase)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 54821
• Gene name: ERCC excision repair 6 like, spindle assembly checkpoint helicase
• Gene symbol: ERCC6L
• Synonyms (NCBI Gene): PICH, RAD26L
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: 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, th

miRNA Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024875	hsa-miR-215-5p	Microarray	19074876
MIRT025294	hsa-miR-34a-5p	Proteomics	21566225
MIRT025294	hsa-miR-34a-5p	Proteomics	21566225
MIRT026175	hsa-miR-192-5p	Microarray	19074876
MIRT028933	hsa-miR-26b-5p	Microarray	19088304
MIRT046792	hsa-miR-222-3p	CLASH	23622248
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT658572	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT658571	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT658570	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658569	hsa-miR-5690	HITS-CLIP	23824327
MIRT658568	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT658567	hsa-miR-8073	HITS-CLIP	23824327
MIRT658566	hsa-miR-6868-5p	HITS-CLIP	23824327
MIRT658565	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT658564	hsa-miR-1909-3p	HITS-CLIP	23824327
MIRT658563	hsa-miR-6722-3p	HITS-CLIP	23824327
MIRT658562	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT658561	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT658560	hsa-miR-4736	HITS-CLIP	23824327
MIRT668549	hsa-miR-7977	HITS-CLIP	23824327
MIRT658559	hsa-miR-7150	HITS-CLIP	23824327
MIRT658572	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT658571	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT658570	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658569	hsa-miR-5690	HITS-CLIP	23824327
MIRT658568	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT658567	hsa-miR-8073	HITS-CLIP	23824327
MIRT658566	hsa-miR-6868-5p	HITS-CLIP	23824327
MIRT658565	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT658564	hsa-miR-1909-3p	HITS-CLIP	23824327
MIRT658563	hsa-miR-6722-3p	HITS-CLIP	23824327
MIRT658562	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT658561	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT658560	hsa-miR-4736	HITS-CLIP	23824327
MIRT658559	hsa-miR-7150	HITS-CLIP	23824327
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT709888	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT709887	hsa-miR-4735-5p	HITS-CLIP	19536157
MIRT709886	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT709885	hsa-miR-4471	HITS-CLIP	19536157
MIRT709884	hsa-miR-8059	HITS-CLIP	19536157
MIRT709883	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT658572	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT658571	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT658570	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658569	hsa-miR-5690	HITS-CLIP	23824327
MIRT658568	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT658567	hsa-miR-8073	HITS-CLIP	23824327
MIRT658566	hsa-miR-6868-5p	HITS-CLIP	23824327
MIRT658565	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT658564	hsa-miR-1909-3p	HITS-CLIP	23824327
MIRT658563	hsa-miR-6722-3p	HITS-CLIP	23824327
MIRT658562	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT658561	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT658560	hsa-miR-4736	HITS-CLIP	23824327
MIRT668549	hsa-miR-7977	HITS-CLIP	23824327
MIRT658559	hsa-miR-7150	HITS-CLIP	23824327
MIRT658572	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT658571	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT658570	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT658569	hsa-miR-5690	HITS-CLIP	23824327
MIRT658568	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT658567	hsa-miR-8073	HITS-CLIP	23824327
MIRT658566	hsa-miR-6868-5p	HITS-CLIP	23824327
MIRT658565	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT658564	hsa-miR-1909-3p	HITS-CLIP	23824327
MIRT658563	hsa-miR-6722-3p	HITS-CLIP	23824327
MIRT658562	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT658561	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT658560	hsa-miR-4736	HITS-CLIP	23824327
MIRT658559	hsa-miR-7150	HITS-CLIP	23824327

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	20360068, 23275563, 25416956, 26496610, 28169274, 28514442, 28977671, 32814053, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IBA
GO:0015616	Function	DNA translocase activity	IBA
GO:0015616	Function	DNA translocase activity	IDA	23973328
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 300687
• HGNC: 20794
• e!Ensembl: ENSG00000186871

Protein

• UniProt ID: Q2NKX8
• Protein name: DNA excision repair protein ERCC-6-like (EC 3.6.4.12) (ATP-dependent helicase ERCC6-like) (PLK1-interacting checkpoint helicase) (Tumor antigen BJ-HCC-15)
• Protein function: DNA helicase that acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328,
• PDB: 5JNO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00176	SNF2_N	104 → 417	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	460 → 574	Helicase conserved C-terminal domain	Family

• Sequence:

  MEASRRFPEAEALSPEQAAHYLRYVKEAKEATKNGDLEEAFKLFNLAKDIFPNEKVLSRI
  QKIQEALEELAEQGDDEFTDVCNSGLLLYRELHNQLFEHQKEGIAFLYSLYRDGRKGGIL
  ADDMGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTWVKEFIKWTPGMRVKTFHGPS
  KDERTRNLNRIQQRNGVIITTYQMLINNWQQLSSFRGQEFVWDYVILDEAHKIKTSSTKS
  AICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQGSLLGTLKTFKMEYENPITRAREK
  DATPGEKALGFKISENLMAIIKPYFLRRTKEDVQKKKSSNPEARLNEKNPDVDAICEMPS
  LSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKELLMETRSPLAELGVLKKLCDHPRLLSAR
  ACCLLNLGTFSAQDGNEGEDSPDVDHIDQVTDDTLMEESGKMIFLMDLLKRLRDEGHQTL
  VFSQSRQILNIIERLLKNRHFKTLRIDGTVTHLLEREKRINLFQQNKDYSVFLLTTQVGG
  VGLTLTAATRVVIFDPSWNPATDAQAVDRVYRIGQKENVVVYRLITCGTVEEKIYRRQVF
  KDSLIRQTTGEKKNPFRYFSKQELRELFTIEDLQNSVTQLQLQSLHAAQRKSDIKLDEHI
  AYLQSLGIAGISDHDLMYTCDLSVKEELDVVEESHYIQQRVQKAQFLVEFESQNKEFLME
  QQRTRNEGAWLREPVFPSSTKKKCPKLNKPQPQPSPLLSTHHTQEEDISSKMASVVIDDL
  PKEGEKQDLSSIKVNVTTLQDGKGTGSADSIATLPKGFGSVEELCTNSSLGMEKSFATKN
  EAVQKETLQEGPKQEALQEDPLESFNYVLSKSTKADIGPNLDQLKDDEILRHCNPWPIIS
  ITNESQNAESNVSIIEIADDLSASHSALQDAQASEAKLEEEPSASSPQYACDFNLFLEDS
  ADNRQNFSSQSLEHVEKENSLCGSAPNSRAGFVHSKTCLSWEFSEKDDEPEEVVVKAKIR
  SKARRIVSDGEDEDDSFKDTSSINPFNTSLFQFSSVKQFDASTPKNDISPPGRFFSSQIP
  SSVNKSMNSRRSLASRRSLINMVLDHVEDMEERLDDSSEAKGPEDYPEEGVEESSGEASK
  YTEEDPSGETLSSENKSSWLMTSKPSALAQETSLGAPEPLSGEQLVGSPQDKAAEATNDY
  ETLVKRGKELKECGKIQEALNCLVKALDIKSADPEVMLLTLSLYKQLNNN

• Sequence length: 1250

Pathways

Reactome Pathway

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal

Separation of Sister Chromatids

Resolution of Sister Chromatid Cohesion

RHO GTPases Activate Formins

Mitotic Prometaphase

EML4 and NUDC in mitotic spindle formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	34069769	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30066865, 31160555		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32703154	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	10877158		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	30564062		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31289493		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30459398		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29552194		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37968758	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35285582	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26210716		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30459398		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35656882	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32130760	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30066865, 31160555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28178669		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28178669, 30066865, 31289493		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28178669, 30459398, 31289493		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32130760	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30459398		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31160555		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PMF1-BGLAP 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. NUDC 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. ZWINT 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. PMF1 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. SPC24 6 shared pathwaysAmplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids, Resolution of Sister Chromatid Cohesion, RHO GTPases Activate Formins, Mitotic Prometaphase, EML4 and NUDC in mitotic spindle formation Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PMF1-BGLAP	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
NUDC	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
ZWINT	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
PMF1	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
SPC24	0	[]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]

Diseases Linked via Similar Genes

Breast cancer Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Clear cell renal cell carcinoma Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Intracerebral hemorrhage Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Kidney cancer Linked via 2 of 5 related genesPMF1-BGLAP, PMF1 Myeloproliferative disorder Linked via 2 of 5 related genesPMF1-BGLAP, PMF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	2	["PMF1-BGLAP","PMF1"]
Clear cell renal cell carcinoma	2	["PMF1-BGLAP","PMF1"]
Intracerebral hemorrhage	2	["PMF1-BGLAP","PMF1"]
Kidney cancer	2	["PMF1-BGLAP","PMF1"]
Myeloproliferative disorder	2	["PMF1-BGLAP","PMF1"]