Cyp27a1 MGI Mouse Gene Detail - MGI:88594 - cytochrome P450, family 27, subfamily a, polypeptide 1

Symbol

Cyp27a1
Name

cytochrome P450, family 27, subfamily a, polypeptide 1
Synonyms

1300013A03Rik, cholesterol 27 hydroxylase, Cyp27

Feature Type

protein coding gene
IDs

MGI:88594
NCBI Gene: 104086
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr1:74752733-74777051 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 38.54 cM, cytoband C3
Mapping Data

5 experiments

SNPs within 2kb

644 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88594	protein coding gene	Chr1:74752311-74777056 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016160	protein coding gene	Chr1:75320940-75346187 (+)
A/J	MGP_AJ_G0016143	protein coding gene	Chr1:72699083-72723356 (+)
AKR/J	MGP_AKRJ_G0016100	protein coding gene	Chr1:74702628-74726815 (+)
BALB/cJ	MGP_BALBcJ_G0016098	protein coding gene	Chr1:72753036-72778422 (+)
C3H/HeJ	MGP_C3HHeJ_G0015929	protein coding gene	Chr1:75046413-75073768 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016551	protein coding gene	Chr1:78254528-78279891 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014272	protein coding gene	Chr1:68260662-68286439 (+)
CAST/EiJ	MGP_CASTEiJ_G0015513	protein coding gene	Chr1:74363361-74391504 (+)
CBA/J	MGP_CBAJ_G0015902	protein coding gene	Chr1:80808869-80833185 (+)
DBA/2J	MGP_DBA2J_G0016003	protein coding gene	Chr1:72015701-72040340 (+)
FVB/NJ	MGP_FVBNJ_G0016006	protein coding gene	Chr1:71201561-71226471 (+)
LP/J	MGP_LPJ_G0016075	protein coding gene	Chr1:76435105-76462561 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016026	protein coding gene	Chr1:84185483-84211657 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016598	protein coding gene	Chr1:74773386-74800817 (+)
PWK/PhJ	MGP_PWKPhJ_G0015300	protein coding gene	Chr1:71469745-71497397 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015078	protein coding gene	Chr1:74138216-74169652 (+)
WSB/EiJ	MGP_WSBEiJ_G0015575	protein coding gene	Chr1:74588114-74607162 (+)

Human Ortholog

CYP27A1, cytochrome P450 family 27 subfamily A member 1

Vertebrate Orthologs

7

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CYP27A1, cytochrome P450 family 27 subfamily A member 1
Synonyms

CP27, CTX, CYP27
Links

HGNC:2605

NCBI Gene ID: 1593

neXtProt AC: NX_Q02318

UniProt: Q02318
Chr Location

2q35; chr2:218781749-218815293 (+) GRCh38

MGI Vertebrate Homology

Cyp27a1 stringent orthology
1 human;1 mouse;1 rat;5 zebrafish
HCOP

vertebrate homology predictions: CYP27A1
Gene Tree

Cyp27a1

Diseases

1 with human CYP27A1 associations

				Human Disease	Mouse Models
				cerebrotendinous xanthomatosis IDs cerebrotendinous xanthomatosis DOID:4810 MESH:D019294 NCI:C84628 OMIM:213700 ORDO:909 UMLS_CUI:C0238052

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

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Phenotype Summary

39 phenotypes from 2 alleles in 3 genetic backgrounds
4 phenotypes from multigenic genotypes
52 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
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

2
Targeted

6
Genomic Mutations

3 involving Cyp27a1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis.

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All GO Annotations

33
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	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

772
Tissues

43
cDNA Data

62
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cyp27a1, cyp27a1.2, cyp27a1.3, cyp27a1.5 (prov), XB1001094

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All Sequences

39
RefSeq

6
UniProt

2
CCDS

CCDS15054.1

Ensembl

ENSMUSG00000026170 (Evidence)
NCBI Gene

104086

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026170	Ensembl Gene Model \| MGI Sequence Detail	24319	C57BL/6J	± kb
transcript	ENSMUST00000027356	Ensembl \| MGI Sequence Detail	1892	Not Applicable
polypeptide	ENSMUSP00000027356	Ensembl \| MGI Sequence Detail	533	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006110 cytochrome P450 27, mitochondrial

(term hierarchy)
EC

1.14.15.15
InterPro Domains

IPR001128 Cytochrome P450

IPR017972 Cytochrome P450, conserved site

IPR002401 Cytochrome P450, E-class, group I

IPR050479 Cytochrome P450, families 11 and 27

IPR036396 Cytochrome P450 superfamily
GlyGen

Q9DBG1 1 site, 1 O-linked glycan (1 site)

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All nucleic 71

Genomic 4

cDNA 62

Primer pair 5

Microarray probesets 3

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MGD-MRK-2311, MGI:1922018

Summaries

All 101

Developmental Gene Expression 6

Gene Ontology 9

Phenotypes 52
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Cyp27a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7449	Chr1:74752288-74752301 (+)	-438 bp
Tssr7450	Chr1:74752302-74752325 (+)	-419 bp
Tssr7451	Chr1:74752332-74752365 (+)	-384 bp
Tssr7452	Chr1:74752369-74752380 (+)	-358 bp
Tssr7453	Chr1:74752429-74752457 (+)	-290 bp
Tssr7454	Chr1:74752462-74752491 (+)	-256 bp
Tssr7455	Chr1:74752710-74752727 (+)	-14 bp
Tssr7456	Chr1:74755430-74755434 (+)	2,699 bp
Tssr7457	Chr1:74771184-74771201 (+)	18,460 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 12/10/2024 MGI 6.24