C1galt1c1 MGI Mouse Gene Detail - MGI:1913493 - C1GALT1-specific chaperone 1

Symbol

C1galt1c1
Name

C1GALT1-specific chaperone 1
Synonyms

1500002I11Rik, C81205, Cosmc

Feature Type

protein coding gene
IDs

MGI:1913493
NCBI Gene: 59048
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

ChrX:37719662-37723964 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 22.91 cM, cytoband A2
Mapping Data

3 experiments

SNPs within 2kb

15 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913493	protein coding gene	ChrX:37719660-37724020 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035668	protein coding gene	ChrX:33605986-33610302 (-)
A/J	MGP_AJ_G0035653	protein coding gene	ChrX:33658654-33662956 (-)
AKR/J	MGP_AKRJ_G0035570	protein coding gene	ChrX:34451010-34455312 (-)
BALB/cJ	MGP_BALBcJ_G0035637	protein coding gene	ChrX:33359182-33363484 (-)
C3H/HeJ	MGP_C3HHeJ_G0035341	protein coding gene	ChrX:33968967-33973269 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036168	protein coding gene	ChrX:34377737-34382039 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033020	protein coding gene	ChrX:32062420-32066671 (-)
CAST/EiJ	MGP_CASTEiJ_G0034632	protein coding gene	ChrX:21968591-21972917 (-)
CBA/J	MGP_CBAJ_G0035315	protein coding gene	ChrX:35244560-35248862 (-)
DBA/2J	MGP_DBA2J_G0035469	protein coding gene	ChrX:33492407-33496713 (-)
FVB/NJ	MGP_FVBNJ_G0035418	protein coding gene	ChrX:33241558-33245860 (-)
LP/J	MGP_LPJ_G0035557	protein coding gene	ChrX:34002210-34006526 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035456	protein coding gene	ChrX:35579386-35583688 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036184	protein coding gene	ChrX:33650844-33655146 (-)
PWK/PhJ	MGP_PWKPhJ_G0034333	protein coding gene	ChrX:21545705-21550142 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034178	protein coding gene	ChrX:22511350-22515707 (-)
WSB/EiJ	MGP_WSBEiJ_G0034778	protein coding gene	ChrX:33332271-33336589 (-)

Human Ortholog

C1GALT1C1, C1GALT1 specific chaperone 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

C1GALT1C1, C1GALT1 specific chaperone 1
Synonyms

AHUS8, C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
Links

HGNC:24338

NCBI Gene ID: 29071

neXtProt AC: NX_Q96EU7

UniProt: Q96EU7
Chr Location

Xq24; chrX:120625674-120630054 (-) GRCh38

MGI Vertebrate Homology

C1galt1c1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: C1GALT1C1
Gene Tree

C1galt1c1

Diseases

2 with human C1GALT1C1 associations

				Human Disease	Mouse Models
				hemolytic-uremic syndrome IDs hemolytic-uremic syndrome DOID:12554 ICD10CM:D59.3 ICD9CM:283.11 MESH:D006463 NCI:C75545 ORDO:2134 UMLS_CUI:C0019061
				Tn polyagglutination syndrome IDs Tn polyagglutination syndrome DOID:0080520 OMIM:300622

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

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
16 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

19
Endonuclease-mediated

2
Gene trapped

10
Targeted

7
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice hemizygous for a knock-out allele exhibit embryonic lethality with hemorrhaging. Female mice heterozygous for a knock-out allele exhibit some embryonic lethality with hemorrhage and disorganized vascular system and surviving mice dieing postnatally.

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All GO Annotations

13
GO References

7

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

800
Tissues

94
cDNA Data

9
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase c1galt1c1

ZFIN c1galt1c1

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All Sequences

38
RefSeq

2
UniProt

2
CCDS

CCDS30095.1

Ensembl

ENSMUSG00000048970 (Evidence)
NCBI Gene

59048

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048970	Ensembl Gene Model \| MGI Sequence Detail	4303	C57BL/6J	± kb
transcript	ENSMUST00000058265	Ensembl \| MGI Sequence Detail	1449	Not Applicable
polypeptide	ENSMUSP00000059224	Ensembl \| MGI Sequence Detail	316	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004874 C1GALT1-specific chaperone 1

(term hierarchy)
InterPro Domains

IPR026050 C1GALT1/C1GALT1-specific chaperone 1

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All nucleic 9

cDNA 9

Microarray probesets 4

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MGI:1927553, MGI:2148065

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 16
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

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

TSS for C1galt1c1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr163233	ChrX:37723972-37724025 (-)	-35 bp
Tssr163232	ChrX:37723943-37723970 (-)	7 bp
Tssr163231	ChrX:37723921-37723940 (-)	33 bp
Tssr163230	ChrX:37723914-37723919 (-)	47 bp
Tssr163229	ChrX:37723897-37723912 (-)	59 bp
Tssr163228	ChrX:37723880-37723889 (-)	79 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23