Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp21a1provided by MGI
Official Full Name: cytochrome P450, family 21, subfamily a, polypeptide 1provided by MGI
Primary source: MGI:MGI:88591
See related: Ensembl:ENSMUSG00000024365 AllianceGenome:MGI:88591
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 21OH; 21-OH; 21OHA; 21OHB; Cyp21; Cyp21B; Oh21-1; Oh21-2; CYP21OH-A; Cyp21-ps1; Cyp21a2ps; Cyp21a2-ps
Summary: Predicted to enable 17-hydroxyprogesterone 21-hydroxylase activity; heme binding activity; and progesterone 21-hydroxylase activity. Predicted to be involved in progesterone metabolic process and steroid hormone biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including adrenal gland; lung; metanephros; spleen; and testis. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia. Orthologous to several human genes including CYP21A2 (cytochrome P450 family 21 subfamily A member 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward adrenal adult (RPKM 8124.5) See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 18.36 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35020322..35023400, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34801348..34804426, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Quantitative Characterization of Ectopic Adrenal Gene Expression in Fetal Testes in 21-Hydroxylase Deficient Mice.
Title: Quantitative Characterization of Ectopic Adrenal Gene Expression in Fetal Testes in 21-Hydroxylase Deficient Mice.
To test this hypothesis, we administered intravenously an AAV serotype rh.10 gene transfer vector (AAVrh.10-21OH-HA) to 21-hydroxylase deficient mice (21OH(-/-)). The data demonstrates that a single intravenous administration efficiently transduces adrenocortical cells leading to 21OH-HA expression and restoration of normal steroidogenesis.
Title: Biology of the Adrenal Gland Cortex Obviates Effective Use of Adeno-Associated Virus Vectors to Treat Hereditary Adrenal Disorders.
Cyp21a1 remains expressed in the most distal structure of the developing lung even though these structures are changing, but its expression is not restricted to these areas.
Title: Dynamic modulation of Cyp21a1 (21-hydroxylase) expression sites in the mouse developing lung.
Extra-adrenal induction of Cyp21a1 ameliorates steroid metabolism in 21-OHD mice. This study suggests a novel therapeutic strategy for congenital adrenal hyperplasia, which warrants further investigations.
Title: Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.
Ureteral obstruction leads to the alteration of renal vitamin D metabolic enzyme expression and calcium transporter abundance, which may secondarily induce the abnormality of vitamin D endocrine system and bone health.
Title: Changes of renal vitamin D metabolic enzyme expression and calcium transporter abundance in obstructive nephropathy.
Allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicates that a founder effect may be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil
Title: Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
The mutations are: I, no or minor decrease in enzyme activity: R238Q, P465L, R361K, A362V, P458L; II, loss of enzyme activity caused by inefficient electron flux: R346H, R400C; III, loss of activity due to deficient substrate binding: I462F, L464F
Title: Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493327

Cyp21a1 (e-PCR), detects polymorphism
- UniSTS:462983

Cyp21a1 (e-PCR), detects polymorphism
- UniSTS:546716

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 17-hydroxyprogesterone 21-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables 17-hydroxyprogesterone 21-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables heme binding	ISS Inferred from Sequence or Structural Similarity more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables progesterone 21-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables progesterone 21-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables steroid 21-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid 21-monooxygenase activity	ISO Inferred from Sequence Orthology more info
enables steroid binding	IEA Inferred from Electronic Annotation more info
enables steroid hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables steroid hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in C21-steroid hormone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glucocorticoid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in mineralocorticoid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in progesterone metabolic process	ISO Inferred from Sequence Orthology more info
involved_in steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in steroid metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: steroid 21-hydroxylase

Names: 21-OHase; 21-hydroxylase; cytochrome P-450; cytochrome P-450c21; cytochrome P450 21; cytochrome P450 XXI; cytochrome P450 hydroxylase A; cytochrome P450, 21, pseudogene; cytochrome P450, 21, steroid 21 hydroxylase; cytochrome P450, family 21, subfamily a, polypeptide 2, pseudogene; cytochrome P450-C21

NP_034125.2

EC 1.14.14.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009995.2 → NP_034125.2 steroid 21-hydroxylase

See identical proteins and their annotated locations for NP_034125.2

Status: VALIDATED

Source sequence(s)

AI323066, AK146565, BC127167, BQ033552

Consensus CDS

CCDS28658.1

UniProtKB/Swiss-Prot

A0JP50, O88304, P03940, Q64510, Q9QX14

UniProtKB/TrEMBL

A0A0R4J048, Q3UJ92

Related

ENSMUSP00000025223.8, ENSMUST00000025223.9

Conserved Domains (1) summary

pfam00067
Location:29 → 471

p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

35020322..35023400 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_001363.1: Suppressed sequence

Description

NG_001363.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.