UniProtKB - Q5T890 (ER6L2_HUMAN)
Protein
DNA excision repair protein ERCC-6-like 2
Gene
ERCC6L2
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in early DNA damage response.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 159 – 166 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- DNA binding Source: UniProtKB-KW
- helicase activity Source: UniProtKB-KW
- protein kinase binding Source: UniProtKB
GO - Biological processi
- cellular response to reactive oxygen species Source: UniProtKB
- interstrand cross-link repair Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Helicase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5T890 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA excision repair protein ERCC-6-like 2 (EC:3.6.4.-)Alternative name(s): DNA repair and recombination protein RAD26-like |
Gene namesi | Name:ERCC6L2 Synonyms:C9orf102, RAD26L |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26922, ERCC6L2 |
MIMi | 615667, gene |
neXtProti | NX_Q5T890 |
VEuPathDBi | HostDB:ENSG00000182150.15 |
Subcellular locationi
Nucleus
Cytoskeleton
Mitochondrion
Note: Colocalizes with NEK6 in the centrosome. In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner.
Cytoskeleton
- microtubule organizing center Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Bone marrow failure syndrome 2 (BMFS2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.
Related information in OMIMOrganism-specific databases
DisGeNETi | 375748 |
MalaCardsi | ERCC6L2 |
MIMi | 615715, phenotype |
Orphaneti | 319465, Inherited acute myeloid leukemia 401764, Pancytopenia-developmental delay syndrome |
PharmGKBi | PA134961240 |
Miscellaneous databases
Pharosi | Q5T890, Tdark |
Genetic variation databases
BioMutai | ERCC6L2 |
DMDMi | 74756405 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000326086 | 1 – 1561 | DNA excision repair protein ERCC-6-like 2Add BLAST | 1561 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 991 | PhosphoserineBy similarity | 1 | |
Modified residuei | 994 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1384 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1387 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated by NEK6.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q5T890 |
jPOSTi | Q5T890 |
MassIVEi | Q5T890 |
PaxDbi | Q5T890 |
PeptideAtlasi | Q5T890 |
PRIDEi | Q5T890 |
ProteomicsDBi | 64714 [Q5T890-1] 64715 [Q5T890-2] 652 |
PTM databases
CarbonylDBi | Q5T890 |
iPTMneti | Q5T890 |
PhosphoSitePlusi | Q5T890 |
Expressioni
Tissue specificityi
Expressed in bone marrow (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000182150, Expressed in corpus callosum and 165 other tissues |
ExpressionAtlasi | Q5T890, baseline and differential |
Genevisiblei | Q5T890, HS |
Organism-specific databases
HPAi | ENSG00000182150, Low tissue specificity |
Interactioni
Subunit structurei
Isoform 2 interacts with NEK6.
1 PublicationBinary interactionsi
Hide detailsGO - Molecular functioni
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 131996, 6 interactors |
IntActi | Q5T890, 7 interactors |
STRINGi | 9606.ENSP00000288985 |
Miscellaneous databases
RNActi | Q5T890, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q5T890 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 146 – 332 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 187 | |
Domaini | 523 – 673 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 151 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 283 – 286 | DEAH box | 4 |
Sequence similaritiesi
Belongs to the SNF2/RAD54 helicase family.Curated
Phylogenomic databases
eggNOGi | KOG0387, Eukaryota |
HOGENOMi | CLU_000315_17_10_1 |
InParanoidi | Q5T890 |
OMAi | QTRYFEG |
OrthoDBi | 372069at2759 |
TreeFami | TF351516 |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR002464, DNA/RNA_helicase_DEAH_CS IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR029256, Heliccase-ass-bd IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 1 hit PF14773, VIGSSK, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00690, DEAH_ATP_HELICASE, 1 hit PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5T890-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQPGSAPPPG RMDPSAPQPR AETSGKDIWH PGERCLAPSP DNGKLCEASI
60 70 80 90 100
KSITVDENGK SFAVVLYADF QERKIPLKQL QEVKFVKDCP RNLIFDDEDL
110 120 130 140 150
EKPYFPNRKF PSSSVAFKLS DNGDSIPYTI NRYLRDYQRE GTRFLYGHYI
160 170 180 190 200
HGGGCILGDD MGLGKTVQVI SFLAAVLHKK GTREDIENNM PEFLLRSMKK
210 220 230 240 250
EPLSSTAKKM FLIVAPLSVL YNWKDELDTW GYFRVTVLHG NRKDNELIRV
260 270 280 290 300
KQRKCEIALT TYETLRLCLD ELNSLEWSAV IVDEAHRIKN PKARVTEVMK
310 320 330 340 350
ALKCNVRIGL TGTILQNNMK ELWCVMDWAV PGLLGSGTYF KKQFSDPVEH
360 370 380 390 400
GQRHTATKRE LATGRKAMQR LAKKMSGWFL RRTKTLIKDQ LPKKEDRMVY
410 420 430 440 450
CSLTDFQKAV YQTVLETEDV TLILQSSEPC TCRSGQKRRN CCYKTNSHGE
460 470 480 490 500
TVKTLYLSYL TVLQKVANHV ALLQAASTSK QQETLIKRIC DQVFSRFPDF
510 520 530 540 550
VQKSKDAAFE TLSDPKYSGK MKVLQQLLNH CRKNRDKVLL FSFSTKLLDV
560 570 580 590 600
LQQYCMASGL DYRRLDGSTK SEERLKIVKE FNSTQDVNIC LVSTMAGGLG
610 620 630 640 650
LNFVGANVVV LFDPTWNPAN DLQAIDRAYR IGQCRDVKVL RLISLGTVEE
660 670 680 690 700
IMYLRQIYKQ QLHCVVVGSE NAKRYFEAVQ GSKEHQGELF GIHNLFKFRS
710 720 730 740 750
QGSCLTKDIL EREGQVEAGI MTATTWLKEG PPAHKLEMPR QPDCQECRGT
760 770 780 790 800
EQAAEPLAKE ACDLCSDFSD EEPVGATGIK TAKNKAPDSS KASSSPGQLT
810 820 830 840 850
LLQCGFSKLL ETKCKAVEDS DGNTASDDES SDEQPTCLST EAKDAGCEKN
860 870 880 890 900
QDSLGTSKHQ KLDNILNPKE KHIFYKSEKI LEQNISSKSD EKKIKNTDKH
910 920 930 940 950
CILQNVTESE DSDVICPTQY TTERFPDNSI RFKPPLEGSE DSETEHTVKT
960 970 980 990 1000
RNNDNSRNTD DKRNGIISKK LSPENTTLKS ILKRKGTSDI SDESDDIEIS
1010 1020 1030 1040 1050
SKSRVRKRAS SLRFKRIKET KKELHNSPKT MNKTNQVYAA NEDHNSQFID
1060 1070 1080 1090 1100
DYSSSDESLS VSHFSFSKQS HRPRTIRDRT SFSSKLPSHN KKNSTFIPRK
1110 1120 1130 1140 1150
PMKCSNEKVV NQEQSYESMD KFLDGVQEVA YIHSNQNVIG SSKAENHMSR
1160 1170 1180 1190 1200
WAAHDVFELK QFSQLPANIA VCSSKTYKEK VDADTLPHTK KGQQPSEGSI
1210 1220 1230 1240 1250
SLPLYISNPV NQKKKKVYHT NQTTFIIGET PKGIRRKQFE EMASYFNSSS
1260 1270 1280 1290 1300
VNEFAKHITN ATSEERQKML RDFYASQYPE VKEFFVDSVS QFNNSSFEKG
1310 1320 1330 1340 1350
EQRTRKKSDK RESLIKPRLS DSETLSFKDS TNKISQVCSL KTYKRKSVKF
1360 1370 1380 1390 1400
QNHISYREEV FFNDAETKKS PVSSTQEIDS GKNSQASEDT VTSRSLNSES
1410 1420 1430 1440 1450
ETRERRLENT MKDQQDLTRT GISRKEPLLK LENKKIENPV LENTSVISLL
1460 1470 1480 1490 1500
GDTSILDDLF KSHGNSPTQL PKKVLSGPME KAKQRPKDFW DILNEQNDES
1510 1520 1530 1540 1550
LSKLTDLAVI ETLCEKAPLA APFKRREEPA TSLWKSNEKF LWKKFSPSDT
1560
DENATNTQST T
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y3T7 | H0Y3T7_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 1,058 | Annotation score: | ||
A0A590UJ07 | A0A590UJ07_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 1,550 | Annotation score: | ||
A0A590UJV1 | A0A590UJV1_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 1,169 | Annotation score: | ||
A0A590UJ12 | A0A590UJ12_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 LOC375748, hCG_1738516 | 700 | Annotation score: | ||
A0A590UJK0 | A0A590UJK0_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 LOC375748, hCG_1738516 | 672 | Annotation score: | ||
A0A590UJA1 | A0A590UJA1_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 740 | Annotation score: | ||
A0A5F9UKL4 | A0A5F9UKL4_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 701 | Annotation score: | ||
F2Z2R4 | F2Z2R4_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 207 | Annotation score: | ||
X6RE28 | X6RE28_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 82 | Annotation score: | ||
S4R327 | S4R327_HUMAN | DNA excision repair protein ERCC-6-... | ERCC6L2 | 54 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
The sequence AAH22957 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB97543 differs from that shown. Reason: Frameshift.Curated
The sequence CAB97543 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW92640 differs from that shown. Reason: Erroneous gene model prediction.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1551 – 1555 | DENAT → A in BAC04478 (PubMed:14702039).Curated | 5 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039987 | 592 | V → A. Corresponds to variant dbSNP:rs2274654Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054666 | 1 – 189 | Missing in isoform 3. 1 PublicationAdd BLAST | 189 | |
Alternative sequenceiVSP_054667 | 190 – 209 | MPEFL…STAKK → MQKERELQETIYFKNTWPAC in isoform 3. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_054668 | 712 | R → V in isoform 2 and isoform 3. 2 Publications | 1 | |
Alternative sequenceiVSP_054669 | 713 – 1561 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 849 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL159167 Genomic DNA No translation available. AL161454 Genomic DNA No translation available. CH471174 Genomic DNA Translation: EAW92636.1 CH471174 Genomic DNA Translation: EAW92640.1 Sequence problems. BC022957 mRNA Translation: AAH22957.3 Different initiation. BC035183 mRNA Translation: AAH35183.1 BC140702 mRNA Translation: AAI40703.1 AL389953 mRNA Translation: CAB97543.1 Sequence problems. AK095025 mRNA Translation: BAC04478.1 |
RefSeqi | NP_001010895.1, NM_001010895.2 NP_064592.2, NM_020207.4 |
Genome annotation databases
Ensembli | ENST00000665077; ENSP00000499371; ENSG00000182150 |
GeneIDi | 375748 |
KEGGi | hsa:375748 |
UCSCi | uc004avt.5, human [Q5T890-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL159167 Genomic DNA No translation available. AL161454 Genomic DNA No translation available. CH471174 Genomic DNA Translation: EAW92636.1 CH471174 Genomic DNA Translation: EAW92640.1 Sequence problems. BC022957 mRNA Translation: AAH22957.3 Different initiation. BC035183 mRNA Translation: AAH35183.1 BC140702 mRNA Translation: AAI40703.1 AL389953 mRNA Translation: CAB97543.1 Sequence problems. AK095025 mRNA Translation: BAC04478.1 |
RefSeqi | NP_001010895.1, NM_001010895.2 NP_064592.2, NM_020207.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6HQ9 | X-ray | 1.98 | A/B | 26-92 | [»] | |
SMRi | Q5T890 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 131996, 6 interactors |
IntActi | Q5T890, 7 interactors |
STRINGi | 9606.ENSP00000288985 |
PTM databases
CarbonylDBi | Q5T890 |
iPTMneti | Q5T890 |
PhosphoSitePlusi | Q5T890 |
Genetic variation databases
BioMutai | ERCC6L2 |
DMDMi | 74756405 |
Proteomic databases
EPDi | Q5T890 |
jPOSTi | Q5T890 |
MassIVEi | Q5T890 |
PaxDbi | Q5T890 |
PeptideAtlasi | Q5T890 |
PRIDEi | Q5T890 |
ProteomicsDBi | 64714 [Q5T890-1] 64715 [Q5T890-2] 652 |
Protocols and materials databases
Antibodypediai | 55361, 161 antibodies |
DNASUi | 375748 |
Genome annotation databases
Ensembli | ENST00000665077; ENSP00000499371; ENSG00000182150 |
GeneIDi | 375748 |
KEGGi | hsa:375748 |
UCSCi | uc004avt.5, human [Q5T890-1] |
Organism-specific databases
CTDi | 375748 |
DisGeNETi | 375748 |
GeneCardsi | ERCC6L2 |
HGNCi | HGNC:26922, ERCC6L2 |
HPAi | ENSG00000182150, Low tissue specificity |
MalaCardsi | ERCC6L2 |
MIMi | 615667, gene 615715, phenotype |
neXtProti | NX_Q5T890 |
Orphaneti | 319465, Inherited acute myeloid leukemia 401764, Pancytopenia-developmental delay syndrome |
PharmGKBi | PA134961240 |
VEuPathDBi | HostDB:ENSG00000182150.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0387, Eukaryota |
HOGENOMi | CLU_000315_17_10_1 |
InParanoidi | Q5T890 |
OMAi | QTRYFEG |
OrthoDBi | 372069at2759 |
TreeFami | TF351516 |
Enzyme and pathway databases
PathwayCommonsi | Q5T890 |
Miscellaneous databases
BioGRID-ORCSi | 375748, 6 hits in 871 CRISPR screens |
ChiTaRSi | ERCC6L2, human |
GenomeRNAii | 375748 |
Pharosi | Q5T890, Tdark |
PROi | PR:Q5T890 |
RNActi | Q5T890, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182150, Expressed in corpus callosum and 165 other tissues |
ExpressionAtlasi | Q5T890, baseline and differential |
Genevisiblei | Q5T890, HS |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR002464, DNA/RNA_helicase_DEAH_CS IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR029256, Heliccase-ass-bd IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 1 hit PF14773, VIGSSK, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00690, DEAH_ATP_HELICASE, 1 hit PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ER6L2_HUMAN | |
Accessioni | Q5T890Primary (citable) accession number: Q5T890 Secondary accession number(s): A4D997 Q9NPM7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | May 14, 2014 | |
Last modified: | February 10, 2021 | |
This is version 144 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants