ENSMUSG00000046020


Mus musculus

Features
Gene ID: ENSMUSG00000046020
  
Biological name :Pofut1
  
Synonyms : Pofut1 / protein O-fucosyltransferase 1 / Q91ZW2
  
Possible biological names infered from orthology : Q9H488
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H1
Gene start: 153241533
Gene end: 153270247
  
Corresponding Affymetrix probe sets: 10477286 (MoGene1.0st)   1443881_at (Mouse Genome 430 2.0 Array)   1450137_at (Mouse Genome 430 2.0 Array)   1456323_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000096796
Ensembl peptide - ENSMUSP00000128139
Ensembl peptide - ENSMUSP00000126395
Ensembl peptide - ENSMUSP00000126063
Ensembl peptide - ENSMUSP00000105417
Ensembl peptide - ENSMUSP00000096797
Ensembl peptide - ENSMUSP00000053122
NCBI entrez gene - 140484     See in Manteia.
MGI - MGI:2153207
RefSeq - XM_011239283
RefSeq - NM_080463
RefSeq Peptide - NP_536711
swissprot - A2AMC3
swissprot - E9Q686
swissprot - E9Q7A1
swissprot - Q3UXG7
swissprot - Q91ZW2
swissprot - E9PZ15
swissprot - E9Q154
Ensembl - ENSMUSG00000046020
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pofut1ENSDARG00000008953Danio rerio
 POFUT1ENSGALG00000006594Gallus gallus
 POFUT1ENSG00000101346Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR019378  GDP-fucose protein O-fucosyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0001756 somitogenesis IMP
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006004 fucose metabolic process IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006493 protein O-linked glycosylation IEA
 biological_processGO:0007219 Notch signaling pathway IMP
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0008593 regulation of Notch signaling pathway IEA
 biological_processGO:0036066 protein O-linked fucosylation IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0008417 fucosyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0046922 peptide-O-fucosyltransferase activity ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000154 rib fusion "appearance of one or more ribs as a single structure" [J:62022, J:62023]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Zfp568chato/Zfp568chato
Genetic Background: either: (involves: 129S1/SvImJ * C57BL/6) or (involves: C3HeB/FeJ * C57BL/6) or (involves: C57BL/6 * CAST/Ei)

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pofut1tm1.1Ysa/Pofut1tm1.1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa,Tg(CAG-cat,-Notch1)1Ysa/0
Genetic Background: involves: C3H * C57BL/6 * CBA * SJL

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa,Tg(CAG-cat,-Notch1)1Ysa/0
Genetic Background: involves: C3H * C57BL/6 * CBA * SJL

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
Show

Allelic Composition: Npas4tm1Ooe/Npas4+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: involves: C57BL/6J * CAST/Ei

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
Show

Allelic Composition: Npas4tm1Ooe/Npas4+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: involves: C57BL/6J * CAST/Ei

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: Rbpjtm1Hon/Rbpjtm1Hon,Tg(MMTV-cre)1Mam/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB * SJL

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Npas4tm1Ooe/Npas4+
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: involves: C57BL/6J * CAST/Ei

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Amelxtm3Msnd/Amelxtm3Msnd
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Zfp568chato/Zfp568chato
Genetic Background: either: (involves: 129S1/SvImJ * C57BL/6) or (involves: C3HeB/FeJ * C57BL/6) or (involves: C57BL/6 * CAST/Ei)

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pofut1tm1.1Ysa/Pofut1tm1.1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0001691 abnormal somite shape "atypical characteristic surface configuration of a segmental mass along the notochord of the developing embryo" [J:37888]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

 MP:0001861 lung inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr1d1tm1.1Rev/Nr1d1tm1.1Rev,Nr1d2tm1.1Rev/Nr1d2tm1.1Rev,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: BALB/cJ * C57BL/6 * C57BL/6J * CBA

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Zfp568chato/Zfp568chato
Genetic Background: either: (involves: 129S1/SvImJ * C57BL/6) or (involves: C3HeB/FeJ * C57BL/6) or (involves: C57BL/6 * CAST/Ei)

 MP:0002740 heart hypoplasia "decreased cell number in the heart" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:77765]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0003414 epidermal cyst "a cyst formed of a mass of epidermal cells which is present beneath the epidermis; the wall is lined with stratified squamous epithelium and exhibits increased/abnormal keratinization" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rbpjtm1Hon/Rbpjtm1Hon,Tg(MMTV-cre)1Mam/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB * SJL

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm1.1Ysa/Pofut1tm1.1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

 MP:0004606 absent vertebral spinous process "missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0004610 small vertebrae "reduced size of the bony segments of the spinal column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: involves: C57BL/6J * CAST/Ei

 MP:0005222 abnormal somite size "atypical size of any of the segmental masses along the notochord of the developing embryo" [J:72325]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0005223 abnormal anterior-posterior polarity of the somites "anomalous development or formation of the somites along the axis that runs from the front to the back surface of the body " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:72325]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

Allelic Composition: Pofut1tm1Pst/Pofut1cax
Genetic Background: involves: 129/Sv * C57BL/6J * SJL/J

 MP:0006207 embryonic lethality during organogenesis "death anytime after embryo turning but before the completion of organogenesis (E9 to less than E14)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0006269 abnormal mammary gland growth during pregnancy "anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rbpjtm1Hon/Rbpjtm1Hon,Tg(MMTV-cre)1Mam/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB * SJL

 MP:0008825 abnormal cardiac epithelial to mesenchymal transition "anomaly in the process by which endocardial cells of the atrioventricular canal lose their epithelial characteristics, delaminante from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventaully forming the endocardial cushions reqired for septum and atrioventricular valve formation" [PMID:17303760]
Show

Allelic Composition: Pofut1tm1.1Ysa/Pofut1tm1.1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0008832 hemivertebra "a congenital malformation of the spine in which only half of a vertebral body develops" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pofut1cax/Pofut1cax
Genetic Background: C3H/HeJ-Pofut1cax/J

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0010503 myocardial trabeculae hypoplasia "underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the heart, usually due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Pofut1tm1Ysa/Pofut1tm1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0010897 abnormal bronchiole epithelium morphology "any structural anomaly of the epithelial layer of the bronchioles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0010915 increased solitary pulmonary neuroendocrine cell number "increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0010942 abnormal respiratory epithelium morphology "any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0011071 absent Clara cells "absence of the rounded, club-shaped, nonciliated cells found between ciliated cells in the bronchiolar epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst,Shhtm2(cre/ERT2)Cjt/Shh+
Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 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: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm1.1Ysa/Pofut1tm1.1Ysa
Genetic Background: involves: C57BL/6 * CBA * SJL

 MP:0011733 fused somites "a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage" [MGI:smb]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

Allelic Composition: Pofut1tm2Pst/Pofut1tm1Pst
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0012254 absent intersomitic vessels "absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites" [MGI:anna]
Show

Allelic Composition: Gsdma3Fgn/Gsdma3+
Genetic Background: involves: BALB/c * C3H/HeH

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr