ENSMUSG00000004018


Mus musculus

Features
Gene ID: ENSMUSG00000004018
  
Biological name :Fancl
  
Synonyms : E3 ubiquitin-protein ligase FANCL / Fancl / Q9CR14
  
Possible biological names infered from orthology : Fanconi anemia complementation group L / Q9NW38
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: A3.3
Gene start: 26386135
Gene end: 26471876
  
Corresponding Affymetrix probe sets: 10374746 (MoGene1.0st)   1423624_at (Mouse Genome 430 2.0 Array)   1432337_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000004120
Ensembl peptide - ENSMUSP00000105135
Ensembl peptide - ENSMUSP00000117073
Ensembl peptide - ENSMUSP00000119873
NCBI entrez gene - 67030     See in Manteia.
MGI - MGI:1914280
RefSeq - NM_025923
RefSeq - NM_001277273
RefSeq Peptide - NP_001264202
RefSeq Peptide - NP_080199
swissprot - Q9CR14
swissprot - D3Z6C0
swissprot - F6Q7G3
Ensembl - ENSMUSG00000004018
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fanclENSDARG00000007885Danio rerio
 FANCLENSGALG00000030022Gallus gallus
 FANCLENSG00000115392Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019162  Fanconi anemia complex, subunit FancL, WD-repeat containing domain
 IPR026848  E3 ubiquitin-protein ligase FANCL
 IPR026850  FANCL C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006513 protein monoubiquitination ISS
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0007276 gamete generation IMP
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0042127 regulation of cell proliferation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IPI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016604 nuclear body ISO
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:0043240 Fanconi anaemia nuclear complex IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity ISO


Pathways (from Reactome)
Pathway description
Fanconi Anemia Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001119 abnormal female reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that bears the offspring" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001127 small ovary "reduced size of the female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0001129 impaired ovarian folliculogenesis "a block in the formation of the spherical ovum in the ovary" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0001750 increased circulating follicle stimulating hormone level "higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [J:35782, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0001927 abnormal oestrous cycle (sensu Rodentia) "failure of or aberrant timing of the sexual cycle of female animals" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001928 abnormal ovulation "aberration in the release of an ovum from a rupturing Graafin follicle, normally regulated by a surge in lutenizing hormone" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002016 ovarian cysts "cystic ovary; usually refers to a benign growth" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Faddtm1e.1(KOMP)Wtsi/Faddtm1e.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Faddtm1e.1(KOMP)Wtsi/Ucd

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0002637 small uterus "reduced size of the female muscular organ of gestation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0002680 decreased number of corpora lutea "fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrus cycle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

 MP:0004806 absent germ cells "absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * FVB/N)

 MP:0004930 small epididymis "decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005287 narrow eye opening "less than the normal distance from one eyelid to the other " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:71350]
Show

Allelic Composition: Faddtm1e.1(KOMP)Wtsi/Faddtm1e.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Faddtm1e.1(KOMP)Wtsi/Ucd

 MP:0008257 thin myometrium "reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008390 abnormal primordial germ cell proliferation "anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008392 decreased primordial germ cell number "reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009009 absent estrous cycle "failure of female animals to enter or progress through their sexual cycle" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009094 abnormal endometrial gland morphology "any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009226 small cervix "reduced size of the lower opening of the uterus to the vagina" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009429 decreased embryo weight "reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Faddtm1e.1(KOMP)Wtsi/Faddtm1e.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Faddtm1e.1(KOMP)Wtsi/Ucd

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Juntm5.1(Junb)Wag/Juntm5.1(Junb)Wag
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Fanclgcd/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: 129/Sv-Fancltm1Ceb

Allelic Composition: Fancltm1Ceb/Fancltm1Ceb
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Pou3f2tm1Rsd/Pou3f2tm1Rsd,Pou3f3tm1Rmc/Pou3f3tm1Rmc
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0013279 increased fasted circulating glucose level "increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
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Allelic Composition: Faddtm1e.1(KOMP)Wtsi/Faddtm1e.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Faddtm1e.1(KOMP)Wtsi/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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