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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046788
UUCD1 version UUC-HoS-00396
Ensembl Protein ID ENSP00000233741.4
UniProt Accession Q9NW38; Q6GU60; FANCL_HUMAN
Genbank Protein ID BAA91548.1; AAY15020.1; AAH09042.1; AAH54517.1; ENSP00000233741
Protein Name E3 ubiquitin-protein ligase FANCL; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; RING-type E3 ubiquitin transferase FANCL
Genbank Nucleotide ID AK001197; AC007250; BC009042; BC054517; BC037570
Gene Name FANCL; PHF9
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000115392.11 ENST00000403295.7 ENSP00000386097.3
ENSG00000115392.11 ENST00000233741.8 ENSP00000233741.4
ENSG00000115392.11 ENST00000402135.7 ENSP00000385021.3
ENSG00000115392.11 ENST00000403676.5 ENSP00000384046.1
ENSG00000115392.11 ENST00000449070.5 ENSP00000401280.1
ENSG00000115392.11 ENST00000446381.5 ENSP00000390991.1
ENSG00000115392.11 ENST00000427708.6 ENSP00000400969.2
ENSG00000115392.11 ENST00000417361.1 ENSP00000389448.1
ENSG00000115392.11 ENST00000481670.2 ENSP00000483263.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPMSZDB
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
RepTarmiRNAMapSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbGWAS CentralOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
UniProtBioGRIDmUbiSiDa
DNA Methylation
TCGAICGC
Protein Expression/Proteomics
THPAGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/RING RING 19622404; 19405097; 19805513; 21229326
Classification
Family E-value Score Start End
E3 activity/RING/RING 0.024 16.8 307 362
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/RING

   S: 1    CaiCledf.....kdgplvlp.CgHvfhadClqkw.....pglknssskefr.....CPlC 45
    C iC+ d+++ ++ Cg fh+ Cl+ w s+++f+ CP+C
   Q: 307 CGICYAYQldgtiPDQVCDNSqCGQPFHQICLYEWlrgllT-----SRQSFNiifgeCPYC 362
    9999887766666334887778*************543332.....44444355555**** PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
Protein Sequence
(Fasta)
MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN ARLLCSWQLR 60
TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE LYALPPPPQF YSSLIEEIGT 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046788|E3,RING|Homo sapiens
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Nucleotide Sequence
(Fasta)
GCGCATGTGC AGGACCCAGC AGGTCTAGAG CTTTTCTGTG TTTCTCCGGA CTTCGAGCCA 60
TGGCGGTGAC GGAAGCGAGC CTGTTGCGCC AGTGCCCCCT GCTTCTGCCC CAGAACCGGT 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046788|E3,RING|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0227--DNA damage
KW-0234--DNA repair
KW-0923--Fanconi anemia
KW-0479--Metal-binding
KW-0539--Nucleus
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0808--Transferase
KW-0832--Ubl conjugation
KW-0833--Ubl conjugation pathway
KW-0862--Zinc
KW-0863--Zinc-finger

Interpro

IPR026848--Fancl
IPR026850--FANCL_C
IPR019162--FancL_WD-rpt_cont_dom
IPR013083--Znf_RING/FYVE/PHD

Pfam

PF11793--FANCL_C
PF09765--WD-3

Gene Ontology

GO:0005737--C:cytoplasm
GO:0043240--C:Fanconi anaemia nuclear complex
GO:0043231--C:intracellular membrane-bounded organelle
GO:0016604--C:nuclear body
GO:0005635--C:nuclear envelope
GO:0005654--C:nucleoplasm
GO:0046872--F:metal ion binding
GO:0061630--F:ubiquitin protein ligase activity
GO:0031625--F:ubiquitin protein ligase binding
GO:0004842--F:ubiquitin-protein transferase activity
GO:0006974--P:cellular response to DNA damage stimulus
GO:0006281--P:DNA repair
GO:0007276--P:gamete generation
GO:0036297--P:interstrand cross-link repair
GO:0006513--P:protein monoubiquitination
GO:0042127--P:regulation of cell proliferation

KEGG hsa:55120
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-000947 Aegilops tauschii 34.40 2.00e-30 127.00
IUUC-Aml-002195 Ailuropoda melanoleuca 91.51 0.00e+00 716.00
IUUC-Atr-002781 Amborella trichopoda 31.42 1.00e-54 206.00
IUUC-Apl-004169 Anas platyrhynchos 69.71 4.00e-151 527.00
IUUC-Aca-004265 Anolis carolinensis 72.36 1.00e-166 578.00
IUUC-Aly-005687 Arabidopsis lyrata 32.30 2.00e-45 175.00
IUUC-Ath-007450 Arabidopsis thaliana 32.99 3.00e-45 175.00
IUUC-Ame-011485 Astyanax mexicanus 61.41 2.00e-140 492.00
IUUC-Bta-012445 Bos taurus 87.70 0.00e+00 662.00
IUUC-Bol-015164 Brassica oleracea 32.43 3.00e-46 178.00
IUUC-Bra-017917 Brassica rapa 33.78 3.00e-48 185.00
IUUC-Cja-019671 Callithrix jacchus 92.89 0.00e+00 723.00
IUUC-Cfa-020724 Canis familiaris 87.86 0.00e+00 669.00
IUUC-Cpo-022262 Cavia porcellus 87.70 0.00e+00 686.00
IUUC-Cre-022596 Chlamydomonas reinhardtii 52.94 2.00e-12 66.60
IUUC-Csa-023404 Chlorocebus sabaeus 96.80 0.00e+00 754.00
IUUC-Cho-024948 Choloepus hoffmanni 77.98 8.00e-169 586.00
IUUC-Cin-025665 Ciona intestinalis 35.51 1.00e-68 253.00
IUUC-Csv-026047 Ciona savignyi 34.09 1.00e-69 256.00
IUUC-Cme-027255 Cyanidioschyzon merolae 30.03 1.00e-43 170.00
IUUC-Dre-027613 Danio rerio 59.50 1.00e-138 485.00
IUUC-Dno-029829 Dasypus novemcinctus 91.20 0.00e+00 703.00
IUUC-Dor-031075 Dipodomys ordii 75.60 1.00e-161 562.00
IUUC-Dme-031934 Drosophila melanogaster 27.60 1.00e-17 84.00
IUUC-Eca-033981 Equus caballus 91.55 0.00e+00 657.00
IUUC-Eeu-034830 Erinaceus europaeus 83.02 0.00e+00 638.00
IUUC-Fca-036219 Felis catus 88.33 0.00e+00 682.00
IUUC-Fal-037306 Ficedula albicollis 66.39 2.00e-152 531.00
IUUC-Gmo-039666 Gadus morhua 47.19 7.00e-95 340.00
IUUC-Gga-040220 Gallus gallus 70.46 1.00e-161 562.00
IUUC-Gac-042420 Gasterosteus aculeatus 56.40 7.00e-123 433.00
IUUC-Ggo-044566 Gorilla gorilla 98.68 0.00e+00 773.00
IUUC-Hvu-047570 Hordeum vulgare 36.49 2.00e-50 192.00
IUUC-Itr-047954 Ictidomys tridecemlineatus 89.45 0.00e+00 701.00
IUUC-Lch-050066 Latimeria chalumnae 71.51 3.00e-155 541.00
IUUC-Loc-052217 Lepisosteus oculatus 69.30 2.00e-150 525.00
IUUC-Mcc-055354 Macaca mulatta 96.80 0.00e+00 756.00
IUUC-Meu-056714 Macropus eugenii 72.59 5.00e-143 500.00
IUUC-Mga-060000 Meleagris gallopavo 67.68 5.00e-152 530.00
IUUC-Mmr-061723 Microcebus murinus 94.39 0.00e+00 739.00
IUUC-Mdo-062984 Monodelphis domestica 83.16 0.00e+00 671.00
IUUC-Mmu-064139 Mus musculus 79.41 2.00e-170 592.00
IUUC-Mac-065662 Musa acuminata 32.61 3.00e-48 186.00
IUUC-Mpu-066812 Mustela putorius furo 91.25 0.00e+00 709.00
IUUC-Mlu-067545 Myotis lucifugus 88.50 0.00e+00 701.00
IUUC-Nle-069513 Nomascus leucogenys 87.96 0.00e+00 682.00
IUUC-Opr-070501 Ochotona princeps 72.73 7.00e-155 540.00
IUUC-Ont-072646 Oreochromis niloticus 61.62 6.00e-132 463.00
IUUC-Oan-073161 Ornithorhynchus anatinus 78.55 2.00e-176 611.00
IUUC-Ocu-074746 Oryctolagus cuniculus 88.65 0.00e+00 676.00
IUUC-Obr-076053 Oryza brachyantha 36.43 2.00e-50 193.00
IUUC-Ogl-077717 Oryza glaberrima 32.95 7.00e-40 157.00
IUUC-Oin-079089 Oryza indica 34.41 2.00e-48 186.00
IUUC-Ome-081316 Oryza meridionalis 32.97 2.00e-44 172.00
IUUC-Oni-082916 Oryza nivara 32.18 4.00e-42 165.00
IUUC-Opu-083751 Oryza punctata 35.14 4.00e-50 191.00
IUUC-Osa-085519 Oryza sativa 34.77 3.00e-49 189.00
IUUC-Ola-086369 Oryzias latipes 61.08 4.00e-140 491.00
IUUC-Oga-088349 Otolemur garnettii 89.30 0.00e+00 704.00
IUUC-Oar-090434 Ovis aries 86.90 0.00e+00 657.00
IUUC-Ptr-090459 Pan troglodytes 97.89 0.00e+00 766.00
IUUC-Pan-092544 Papio anubis 90.96 0.00e+00 703.00
IUUC-Psi-093343 Pelodiscus sinensis 71.51 7.00e-156 543.00
IUUC-Pma-094525 Petromyzon marinus 57.65 5.00e-126 444.00
IUUC-Ppa-095236 Physcomitrella patens 39.30 2.00e-75 275.00
IUUC-Pfo-096567 Poecilia formosa 63.10 1.00e-137 482.00
IUUC-Pab-098472 Pongo abelii 98.93 0.00e+00 773.00
IUUC-Pca-100979 Procavia capensis 76.50 4.00e-92 331.00
IUUC-Ppe-101756 Prunus persica 33.33 7.00e-49 187.00
IUUC-Pva-102760 Pteropus vampyrus 89.30 0.00e+00 659.00
IUUC-Rno-105013 Rattus norvegicus 79.68 0.00e+00 633.00
IUUC-Sha-107358 Sarcophilus harrisii 83.72 4.00e-180 623.00
IUUC-Sit-110352 Setaria italica 37.41 2.00e-52 199.00
IUUC-Sly-111509 Solanum lycopersicum 34.64 2.00e-52 199.00
IUUC-Sar-113212 Sorex araneus 77.63 4.00e-161 560.00
IUUC-Sbi-114129 Sorghum bicolor 36.59 3.00e-48 186.00
IUUC-Ssc-116109 Sus scrofa 86.32 4.00e-167 580.00
IUUC-Tgu-117065 Taeniopygia guttata 68.75 1.00e-158 552.00
IUUC-Tru-117934 Takifugu rubripes 59.36 1.00e-138 486.00
IUUC-Tsy-119196 Tarsius syrichta 83.02 1.00e-174 605.00
IUUC-Tni-120320 Tetraodon nigroviridis 57.03 1.00e-129 456.00
IUUC-Tca-121021 Theobroma cacao 32.38 8.00e-51 193.00
IUUC-Tae-123568 Triticum aestivum 37.91 1.00e-52 200.00
IUUC-Tur-126008 Triticum urartu 37.10 3.00e-46 178.00
IUUC-Tbe-127837 Tupaia belangeri 73.39 7.00e-144 503.00
IUUC-Ttr-129133 Tursiops truncatus 80.75 5.00e-179 620.00
IUUC-Vpa-130296 Vicugna pacos 83.24 1.00e-170 592.00
IUUC-Vvi-131575 Vitis vinifera 34.15 3.00e-11 61.60
IUUC-Xtr-131991 Xenopus tropicalis 60.22 6.00e-136 477.00
IUUC-Xma-133080 Xiphophorus maculatus 62.16 3.00e-137 481.00
Created Date 25-Jun-2017

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