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Protein

DNA excision repair protein ERCC-6-like 2

Gene

ERCC6L2

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

Functioni

May be involved in early DNA damage response.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi159 – 166ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:26922. ERCC6L2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Bone marrow failure syndrome 2 (BMFS2)1 Publication
The disease is caused by mutations 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.
See also OMIM:615715

Organism-specific databases

DisGeNETi375748.
MalaCardsiERCC6L2.
MIMi615715. phenotype.
OpenTargetsiENSG00000182150.
Orphaneti401764. Pancytopenia-developmental delay syndrome.
PharmGKBiPA134961240.

Polymorphism and mutation databases

BioMutaiRAD26L.
DMDMi74756405.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003260861 – 1561DNA excision repair protein ERCC-6-like 2Add BLAST1561

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei991PhosphoserineBy similarity1
Modified residuei994PhosphoserineBy similarity1
Modified residuei1384PhosphoserineCombined sources1
Modified residuei1387PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by NEK6.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T890.
PaxDbiQ5T890.
PeptideAtlasiQ5T890.
PRIDEiQ5T890.

PTM databases

iPTMnetiQ5T890.
PhosphoSitePlusiQ5T890.

Expressioni

Tissue specificityi

Expressed in bone marrow (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000182150.
CleanExiHS_C9orf102.
ExpressionAtlasiQ5T890. baseline and differential.
GenevisibleiQ5T890. HS.

Organism-specific databases

HPAiHPA021260.

Interactioni

Subunit structurei

Isoform 2 interacts with NEK6.1 Publication

Protein-protein interaction databases

BioGridi131996. 2 interactors.
IntActiQ5T890. 1 interactor.
STRINGi9606.ENSP00000288985.

Structurei

3D structure databases

ProteinModelPortaliQ5T890.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini146 – 332Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST187
Domaini523 – 673Helicase C-terminalPROSITE-ProRule annotationAdd BLAST151

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi283 – 286DEAH box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0387. Eukaryota.
ENOG410XP4Z. LUCA.
GeneTreeiENSGT00590000083118.
HOGENOMiHOG000111653.
HOVERGENiHBG108393.
InParanoidiQ5T890.
KOiK20098.
OMAiIGVKYSH.
OrthoDBiEOG091G02GG.
TreeFamiTF351516.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR002464. DNA/RNA_helicase_DEAH_CS.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR029256. Heliccase-ass-bd.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
PF14773. VIGSSK. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T890-1) [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
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
Note: Gene prediction based on partial EST data.
Length:1,561
Mass (Da):177,127
Last modified:May 14, 2014 - v2
Checksum:i0322C679063DD958
GO
Isoform 2 (identifier: Q5T890-2) [UniParc]FASTAAdd to basket
Also known as: RAD26L

The sequence of this isoform differs from the canonical sequence as follows:
     712-712: R → V
     713-1561: Missing.

Show »
Length:712
Mass (Da):81,094
Checksum:iFD3C90B13023D89B
GO
Isoform 3 (identifier: Q5T890-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-189: Missing.
     190-209: MPEFLLRSMKKEPLSSTAKK → MQKERELQETIYFKNTWPAC
     712-712: R → V
     713-1561: Missing.

Show »
Length:523
Mass (Da):60,174
Checksum:i3B93B452A2D0E203
GO

Sequence cautioni

The sequence AAH22957 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB97543 differs from that shown. Reason: Frameshift at position 135.Curated
The sequence CAB97543 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW92640 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1551 – 1555DENAT → A in BAC04478 (PubMed:14702039).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039987592V → A.Corresponds to variant rs2274654dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0546661 – 189Missing in isoform 3. 1 PublicationAdd BLAST189
Alternative sequenceiVSP_054667190 – 209MPEFL…STAKK → MQKERELQETIYFKNTWPAC in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_054668712R → V in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_054669713 – 1561Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST849

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.
CCDSiCCDS35072.1. [Q5T890-2]
RefSeqiNP_001010895.1. NM_001010895.2. [Q5T890-2]
NP_064592.2. NM_020207.4. [Q5T890-1]
UniGeneiHs.432364.
Hs.669289.
Hs.732570.

Genome annotation databases

EnsembliENST00000288985; ENSP00000288985; ENSG00000182150. [Q5T890-2]
GeneIDi375748.
KEGGihsa:375748.
UCSCiuc004avt.5. human. [Q5T890-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS35072.1. [Q5T890-2]
RefSeqiNP_001010895.1. NM_001010895.2. [Q5T890-2]
NP_064592.2. NM_020207.4. [Q5T890-1]
UniGeneiHs.432364.
Hs.669289.
Hs.732570.

3D structure databases

ProteinModelPortaliQ5T890.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131996. 2 interactors.
IntActiQ5T890. 1 interactor.
STRINGi9606.ENSP00000288985.

PTM databases

iPTMnetiQ5T890.
PhosphoSitePlusiQ5T890.

Polymorphism and mutation databases

BioMutaiRAD26L.
DMDMi74756405.

Proteomic databases

EPDiQ5T890.
PaxDbiQ5T890.
PeptideAtlasiQ5T890.
PRIDEiQ5T890.

Protocols and materials databases

DNASUi375748.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288985; ENSP00000288985; ENSG00000182150. [Q5T890-2]
GeneIDi375748.
KEGGihsa:375748.
UCSCiuc004avt.5. human. [Q5T890-1]

Organism-specific databases

CTDi375748.
DisGeNETi375748.
GeneCardsiERCC6L2.
HGNCiHGNC:26922. ERCC6L2.
HPAiHPA021260.
MalaCardsiERCC6L2.
MIMi615667. gene.
615715. phenotype.
neXtProtiNX_Q5T890.
OpenTargetsiENSG00000182150.
Orphaneti401764. Pancytopenia-developmental delay syndrome.
PharmGKBiPA134961240.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0387. Eukaryota.
ENOG410XP4Z. LUCA.
GeneTreeiENSGT00590000083118.
HOGENOMiHOG000111653.
HOVERGENiHBG108393.
InParanoidiQ5T890.
KOiK20098.
OMAiIGVKYSH.
OrthoDBiEOG091G02GG.
TreeFamiTF351516.

Miscellaneous databases

ChiTaRSiERCC6L2. human.
GenomeRNAii375748.
PROiQ5T890.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182150.
CleanExiHS_C9orf102.
ExpressionAtlasiQ5T890. baseline and differential.
GenevisibleiQ5T890. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR002464. DNA/RNA_helicase_DEAH_CS.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR029256. Heliccase-ass-bd.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
PF14773. VIGSSK. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiER6L2_HUMAN
AccessioniPrimary (citable) accession number: Q5T890
Secondary accession number(s): A4D997
, B2RTP8, Q49AM9, Q5T892, Q8N663, Q8N9D0, Q9NPM7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 14, 2014
Last modified: November 2, 2016
This is version 111 of the entry and version 2 of the sequence. [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 9
    Human chromosome 9: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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.