Colgalt1 MGI Mouse Gene Detail - MGI:1924348 - collagen beta(1-O)galactosyltransferase 1

Symbol

Colgalt1
Name

collagen beta(1-O)galactosyltransferase 1
Synonyms

2810024B22Rik, Glt25d1, MGC:38524

Feature Type

protein coding gene
IDs

MGI:1924348
NCBI Gene: 234407
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr8:72063642-72077555 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 34.43 cM
Mapping Data

2 experiments

SNPs within 2kb

372 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924348	protein coding gene	Chr8:72063631-72077555 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033758	protein coding gene	Chr8:72023887-72038207 (+)
A/J	MGP_AJ_G0033741	protein coding gene	Chr8:69085654-69099522 (+)
AKR/J	MGP_AKRJ_G0033667	protein coding gene	Chr8:71120658-71141633 (+)
BALB/cJ	MGP_BALBcJ_G0033737	protein coding gene	Chr8:69258734-69273246 (+)
C3H/HeJ	MGP_C3HHeJ_G0033447	protein coding gene	Chr8:71706576-71720416 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034255	protein coding gene	Chr8:74765589-74780025 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031197	protein coding gene	Chr8:63721007-63734987 (+)
CAST/EiJ	MGP_CASTEiJ_G0032772	protein coding gene	Chr8:71167218-71181109 (+)
CBA/J	MGP_CBAJ_G0033425	protein coding gene	Chr8:77411552-77425407 (+)
DBA/2J	MGP_DBA2J_G0033579	protein coding gene	Chr8:68813796-68827691 (+)
FVB/NJ	MGP_FVBNJ_G0033521	protein coding gene	Chr8:67901689-67916817 (+)
LP/J	MGP_LPJ_G0033666	protein coding gene	Chr8:71996269-72010049 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033568	protein coding gene	Chr8:79955856-79969703 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034272	protein coding gene	Chr8:71191838-71205681 (+)
PWK/PhJ	MGP_PWKPhJ_G0032479	protein coding gene	Chr8:68098765-68112578 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032316	protein coding gene	Chr8:70135198-70150495 (+)
WSB/EiJ	MGP_WSBEiJ_G0032888	protein coding gene	Chr8:71536594-71553451 (+)

Human Ortholog

COLGALT1, collagen beta(1-O)galactosyltransferase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COLGALT1, collagen beta(1-O)galactosyltransferase 1
Synonyms

BSVD3, ColGalT 1, GLT25D1
Links

HGNC:26182

NCBI Gene ID: 79709

neXtProt AC: NX_Q8NBJ5

UniProt: Q8NBJ5
Chr Location

19p13.11; chr19:17555649-17583162 (+) GRCh38

MGI Vertebrate Homology

Colgalt1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: COLGALT1
Gene Tree

Colgalt1

Diseases

1 with human COLGALT1 associations

				Human Disease	Mouse Models
				brain small vessel disease 3 IDs brain small vessel disease 3 DOID:0112315 OMIM:618360

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

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Phenotype Summary

24 phenotypes from 2 alleles in 2 genetic backgrounds
9 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

6
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

1
Targeted

2
Genomic Mutations

1 involving Colgalt1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display lethality during organogenesis, growth retardation, and abnormalities of the placenta and liver. Mice heterozygous for a null allele display impaired growth and increased susceptibility to live injury.

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All GO Annotations

7
GO References

3

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	membraneless 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

805
Tissues

95
cDNA Data

16
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase colgalt1

ZFIN colgalt1b

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All Sequences

72
RefSeq

6
UniProt

1
CCDS

CCDS22401.1

Ensembl

ENSMUSG00000034807 (Evidence)
NCBI Gene

234407

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034807	Ensembl Gene Model \| MGI Sequence Detail	13914	C57BL/6J	± kb
transcript	ENSMUST00000047903	Ensembl \| MGI Sequence Detail	3207	Not Applicable
polypeptide	ENSMUSP00000047923	Ensembl \| MGI Sequence Detail	617	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000029527 procollagen galactosyltransferase 1

(term hierarchy)
EC

2.4.1.50
InterPro Domains

IPR050757 Collagen-modifying Glycosyltransferase 25

IPR002654 Glycosyl transferase, family 25

IPR029044 Nucleotide-diphospho-sugar transferases
GlyGen

Q8K297 4 sites, 4 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 16

cDNA 16

Microarray probesets 6

Summaries

All 36

Developmental Gene Expression 3

Gene Ontology 3

Phenotypes 9
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Colgalt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr77899	Chr8:72063746-72063801 (+)	132 bp
Tssr77900	Chr8:72063804-72063844 (+)	182 bp
Tssr77901	Chr8:72063847-72063856 (+)	210 bp
Tssr77902	Chr8:72063874-72063893 (+)	242 bp
Tssr77903	Chr8:72063894-72063904 (+)	257 bp
Tssr77904	Chr8:72064788-72064807 (+)	1,156 bp
Tssr77905	Chr8:72076672-72076702 (+)	13,045 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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