Cyp11a1 MGI Mouse Gene Detail - MGI:88582 - cytochrome P450, family 11, subfamily a, polypeptide 1

Symbol

Cyp11a1
Name

cytochrome P450, family 11, subfamily a, polypeptide 1
Synonyms

cholesterol side chain cleavage, cscc, Cyp11a, D9Ertd411e, P450scc, Scc

Feature Type

protein coding gene
IDs

MGI:88582
NCBI Gene: 13070
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr9:57913694-57934306 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 31.63 cM
Mapping Data

9 experiments

SNPs within 2kb

561 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88582	protein coding gene	Chr9:57905307-57934314 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034882	protein coding gene	Chr9:57264601-57292459 (+)
A/J	MGP_AJ_G0034863	protein coding gene	Chr9:55403900-55425844 (+)
AKR/J	MGP_AKRJ_G0034792	protein coding gene	Chr9:56702275-56726038 (+)
BALB/cJ	MGP_BALBcJ_G0034855	protein coding gene	Chr9:55185692-55206557 (+)
C3H/HeJ	MGP_C3HHeJ_G0034565	protein coding gene	Chr9:57167819-57191866 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035374	protein coding gene	Chr9:58846510-58872122 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032285	protein coding gene	Chr9:54697146-54717365 (+)
CAST/EiJ	MGP_CASTEiJ_G0033886	protein coding gene	Chr9:57263737-57286556 (+)
CBA/J	MGP_CBAJ_G0034536	protein coding gene	Chr9:60908310-60936432 (+)
DBA/2J	MGP_DBA2J_G0034695	protein coding gene	Chr9:55269354-55290408 (+)
FVB/NJ	MGP_FVBNJ_G0034637	protein coding gene	Chr9:54505848-54525574 (+)
LP/J	MGP_LPJ_G0034778	protein coding gene	Chr9:57553361-57575095 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034680	protein coding gene	Chr9:62399126-62420989 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035396	protein coding gene	Chr9:56711761-56736522 (+)
PWK/PhJ	MGP_PWKPhJ_G0033591	protein coding gene	Chr9:55308279-55329311 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033425	protein coding gene	Chr9:56980244-57003215 (+)
WSB/EiJ	MGP_WSBEiJ_G0033999	protein coding gene	Chr9:56647955-56671309 (+)

Human Ortholog

CYP11A1, cytochrome P450 family 11 subfamily A member 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CYP11A1, cytochrome P450 family 11 subfamily A member 1
Synonyms

CYP11A, CYPXIA1, P450SCC
Links

HGNC:2590

NCBI Gene ID: 1583

neXtProt AC: NX_P05108

UniProt: P05108
Chr Location

15q24.1; chr15:74337759-74367646 (-) GRCh38

MGI Vertebrate Homology

Cyp11a1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CYP11A1
Gene Tree

Cyp11a1

Diseases

2 with human CYP11A1 associations

				Human Disease	Mouse Models
				congenital adrenal hyperplasia IDs congenital adrenal hyperplasia DOID:0050811 ICD10CM:E25 ICD9CM:255.2 OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 ORDO:418 UMLS_CUI:C0701163
				congenital adrenal insufficiency IDs congenital adrenal insufficiency DOID:0050546 OMIM:613743

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

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Phenotype Summary

51 phenotypes from 5 alleles in 5 genetic backgrounds
28 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

13
Endonuclease-mediated

2
Gene trapped

2
Targeted

9
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality.

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All GO Annotations

30
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

1149
Tissues

205
cDNA Data

75
Literature Summary

143

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cyp11a1

ZFIN cyp11a1.1, cyp11a1.2

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All Sequences

50
RefSeq

4
UniProt

4
CCDS

CCDS40653.1

Ensembl

ENSMUSG00000032323 (Evidence)
NCBI Gene

13070

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032323	Ensembl Gene Model \| MGI Sequence Detail	20613	C57BL/6J	± kb
transcript	ENSMUST00000034874	Ensembl \| MGI Sequence Detail	2120	Not Applicable
polypeptide	ENSMUSP00000034874	Ensembl \| MGI Sequence Detail	526	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000006096 cytochrome P450 11A1, mitochondrial

(term hierarchy)
EC

1.14.15.6
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

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All nucleic 102

Genomic 1

cDNA 78

Primer pair 16

Other 7

Microarray probesets 4

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MGD-MRK-2291, MGI:1196317

Summaries

All 227

Developmental Gene Expression 143

Gene Ontology 10

Phenotypes 28
Earliest

J:26017 Perkins LM, et al., Quantification of P450scc, P450(17) alpha, and iron sulfur protein reductase in Leydig cells and adrenals of inbred strains of mice. Endocrinology. 1988 Dec;123(6):2675-82
Latest

J:354194 Oikonomakos I, et al., In vitro differentiation of mouse pluripotent stem cells into corticosteroid-producing adrenocortical cells. Stem Cell Reports. 2024 Sep 10;19(9):1289-1303

TSS for Cyp11a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr85349	Chr9:57921755-57921790 (+)	8,079 bp
Tssr85350	Chr9:57922273-57922288 (+)	8,587 bp
Tssr85351	Chr9:57923640-57923654 (+)	9,953 bp
Tssr85352	Chr9:57929232-57929247 (+)	15,546 bp
Tssr85353	Chr9:57934234-57934245 (+)	20,546 bp
Tssr2889	Chr9:57934277-57934282 (+)	20,586 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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