Pofut1 MGI Mouse Gene Detail - MGI:2153207 - protein O-fucosyltransferase 1

Symbol

Pofut1
Name

protein O-fucosyltransferase 1
Synonyms

O-FucT-1

Feature Type

protein coding gene
IDs

MGI:2153207
NCBI Gene: 140484
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:153083453-153112167 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 75.41 cM, cytoband H2
Mapping Data

2 experiments

SNPs within 2kb

719 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2153207	protein coding gene	Chr2:153083435-153114862 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026690	protein coding gene	Chr2:157858793-157890135 (+)
A/J	MGP_AJ_G0026656	protein coding gene	Chr2:151543562-151573111 (+)
AKR/J	MGP_AKRJ_G0026627	protein coding gene	Chr2:155974267-156004646 (+)
BALB/cJ	MGP_BALBcJ_G0026666	protein coding gene	Chr2:151856209-151885424 (+)
C3H/HeJ	MGP_C3HHeJ_G0026408	protein coding gene	Chr2:156347422-156382328 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027115	protein coding gene	Chr2:162448698-162476916 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024486	protein coding gene	Chr2:145123576-145152601 (+)
CAST/EiJ	MGP_CASTEiJ_G0025870	protein coding gene	Chr2:156602523-156631307 (+)
CBA/J	MGP_CBAJ_G0026387	protein coding gene	Chr2:168426370-168464982 (+)
DBA/2J	MGP_DBA2J_G0026523	protein coding gene	Chr2:150753302-150781852 (+)
FVB/NJ	MGP_FVBNJ_G0026489	protein coding gene	Chr2:149222098-149251191 (+)
LP/J	MGP_LPJ_G0026627	protein coding gene	Chr2:158008388-158040838 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026510	protein coding gene	Chr2:172466127-172494766 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027170	protein coding gene	Chr2:155875938-155905578 (+)
PWK/PhJ	MGP_PWKPhJ_G0025604	protein coding gene	Chr2:150288169-150317692 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025407	protein coding gene	Chr2:154704750-154735518 (+)
WSB/EiJ	MGP_WSBEiJ_G0025940	protein coding gene	Chr2:156769199-156798802 (+)

Human Ortholog

POFUT1, protein O-fucosyltransferase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

POFUT1, protein O-fucosyltransferase 1
Synonyms

DDD2, FUT12, O-Fuc-T, O-FucT-1, OFUCT1, O-FUT
Links

HGNC:14988

NCBI Gene ID: 23509

neXtProt AC: NX_Q9H488

UniProt: Q9H488
Chr Location

20q11.21; chr20:32207855-32238658 (+) GRCh38

MGI Vertebrate Homology

Pofut1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: POFUT1
Gene Tree

Pofut1

Diseases

1 with human POFUT1 associations

				Human Disease	Mouse Models
				Dowling-Degos disease IDs Dowling-Degos disease DOID:0060256 MESH:C562924 OMIM:179850 OMIM:615327 OMIM:615674 OMIM:615696 ORDO:79145 UMLS_CUI:C0406811 UMLS_CUI:C3714534

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

48 phenotypes from 5 alleles in 9 genetic backgrounds
2 phenotypes from multigenic genotypes
2 images
39 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

3
Spontaneous

1
Targeted

8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system.

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All GO Annotations

26
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

756
Tissues

23
cDNA Data

68
Literature Summary

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pofut1

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All Sequences

61
RefSeq

4
UniProt

8
CCDS

CCDS16909.1, CCDS16910.1

Ensembl

ENSMUSG00000046020 (Evidence)
NCBI Gene

140484

			Length	Strain/Species	Flank
genomic	ENSMUSG00000046020	Ensembl Gene Model \| MGI Sequence Detail	28715	C57BL/6J	± kb
transcript	ENSMUST00000049863	Ensembl \| MGI Sequence Detail	5600	Not Applicable
polypeptide	ENSMUSP00000053122	Ensembl \| MGI Sequence Detail	393	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000012958 GDP-fucose protein O-fucosyltransferase 1

(term hierarchy)
PDB

5KXH, 5KXQ, 5KY0, 5KY2, 5KY3, 5KY4, 5KY5, 5KY7, 5KY8, 5KY9
EC

2.4.1.221
InterPro Domains

IPR019378 GDP-fucose protein O-fucosyltransferase

IPR039922 GDP-fucose protein O-fucosyltransferase 1
GlyGen

Q91ZW2 2 sites, 2 N-linked glycans (1 site)

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All nucleic 73

cDNA 70

Primer pair 3

Microarray probesets 4

Summaries

All 67

Developmental Gene Expression 10

Gene Ontology 9

Phenotypes 39
Earliest

J:72344 Wang Y, et al., Modification of epidermal growth factor-like repeats with O-fucose. Molecular cloning and expression of a novel GDP-fucose protein O-fucosyltransferase. J Biol Chem. 2001 Oct 26;276(43):40338-45
Latest

J:347837 Tanwar A, et al., Synergistic regulation of Notch signaling by different O-glycans promotes hematopoiesis. Front Immunol. 2023;14:1097332

TSS for Pofut1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20880	Chr2:153082835-153082846 (+)	-612 bp
Tssr20881	Chr2:153082849-153082863 (+)	-597 bp
Tssr20882	Chr2:153083372-153083386 (+)	-74 bp
Tssr20883	Chr2:153083422-153083523 (+)	20 bp
Tssr20884	Chr2:153083527-153083538 (+)	80 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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