Cert1 MGI Mouse Gene Detail - MGI:1915268

Symbol

Cert1
Name

ceramide transporter 1
Synonyms

2810404O15Rik, 9230101K08Rik, ceramide transport protein, Cert, Col4a3bp, GPBP

Feature Type

protein coding gene
IDs

MGI:1915268
NCBI Gene: 68018
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr13:96679243-96776675 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 50.58 cM
Mapping Data

2 experiments

SNPs within 2kb

2109 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915268	protein coding gene	Chr13:96679243-96782362 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020852	protein coding gene	Chr13:98083703-98195336 (+)
A/J	MGP_AJ_G0020806	protein coding gene	Chr13:94389098-94490354 (+)
AKR/J	MGP_AKRJ_G0020780	protein coding gene	Chr13:97274111-97382333 (+)
BALB/cJ	MGP_BALBcJ_G0020803	protein coding gene	Chr13:95088284-95184124 (+)
C3H/HeJ	MGP_C3HHeJ_G0020596	protein coding gene	Chr13:96969655-97077631 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021238	protein coding gene	Chr13:101056737-101153799 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018807	protein coding gene	Chr13:90190430-90296817 (+)
CAST/EiJ	MGP_CASTEiJ_G0020114	protein coding gene	Chr13:96295101-96410510 (+)
CBA/J	MGP_CBAJ_G0020555	protein coding gene	Chr13:105060555-105172920 (+)
DBA/2J	MGP_DBA2J_G0020680	protein coding gene	Chr13:94165770-94263292 (+)
FVB/NJ	MGP_FVBNJ_G0020661	protein coding gene	Chr13:92928583-93025996 (+)
LP/J	MGP_LPJ_G0020755	protein coding gene	Chr13:98218116-98322853 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020689	protein coding gene	Chr13:105438651-105548059 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021279	protein coding gene	Chr13:96699179-96801073 (+)
PWK/PhJ	MGP_PWKPhJ_G0019866	protein coding gene	Chr13:92950477-93060929 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019690	protein coding gene	Chr13:92984303-93084853 (+)
WSB/EiJ	MGP_WSBEiJ_G0020171	protein coding gene	Chr13:97177059-97274938 (+)

Human Ortholog

CERT1, ceramide transporter 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CERT1, ceramide transporter 1
Synonyms

CERT, CERTL, COL4A3BP, GPBP, MRD34, STARD11
Links

HGNC:2205

NCBI Gene ID: 10087

neXtProt AC: NX_Q9Y5P4

UniProt: Q9Y5P4
Chr Location

5q13.3; chr5:75356345-75512138 (-) GRCh38

MGI Vertebrate Homology

Cert1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CERT1
Gene Tree

Cert1

Diseases

1 with human CERT1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 34 IDs autosomal dominant intellectual developmental disorder 34 DOID:0070064 OMIM:616351

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

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Phenotype Summary

49 phenotypes from 3 alleles in 3 genetic backgrounds
5 images
18 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

10
Endonuclease-mediated

2
Gene trapped

5
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation.

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All GO Annotations

35
GO References

10

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

800
Tissues

94
cDNA Data

113
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cert1

ZFIN cert1a

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All Sequences

59
RefSeq

8
UniProt

2
CCDS

CCDS26705.1, CCDS49335.1

Ensembl

ENSMUSG00000021669 (Evidence)
NCBI Gene

68018

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021669	Ensembl Gene Model \| MGI Sequence Detail	97433	C57BL/6J	± kb
transcript	ENSMUST00000077672	Ensembl \| MGI Sequence Detail	2746	Not Applicable
polypeptide	ENSMUSP00000076856	Ensembl \| MGI Sequence Detail	624	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005716 ceramide transfer protein

(term hierarchy)
InterPro Domains

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR041952 STARD11, START domain

IPR002913 START domain

IPR051213 START domain-containing lipid transfer

IPR023393 START-like domain superfamily

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All nucleic 114

cDNA 114

Microarray probesets 8

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MGI:1924931, MGI:2145338, MGI:6393845

Summaries

All 57

Developmental Gene Expression 5

Gene Ontology 10

Phenotypes 18
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cert1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120735	Chr13:96679025-96679030 (+)	-215 bp
Tssr120736	Chr13:96679049-96679070 (+)	-183 bp
Tssr120737	Chr13:96679110-96679134 (+)	-121 bp
Tssr120738	Chr13:96679235-96679283 (+)	16 bp
Tssr120739	Chr13:96679582-96679591 (+)	344 bp
Tssr120740	Chr13:96701912-96701918 (+)	22,672 bp
Tssr120741	Chr13:96739571-96739582 (+)	60,334 bp
Tssr120742	Chr13:96775471-96775475 (+)	96,230 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 11/12/2024 MGI 6.24