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    CYP21A1P cytochrome P450 family 21 subfamily A member 1, pseudogene [ Homo sapiens (human) ]

    Gene ID: 1590, updated on 8-Nov-2023

    Summary

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    Official Symbol
    CYP21A1Pprovided by HGNC
    Official Full Name
    cytochrome P450 family 21 subfamily A member 1, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:2599
    See related
    Ensembl:ENSG00000290788 AllianceGenome:HGNC:2599
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CYP21A; CYP21P; P450c21A
    Expression
    Biased expression in adrenal (RPKM 198.1) and fat (RPKM 7.0) See more
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    Genomic context

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    Location:
    6p21.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32005636..32008909)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31858842..31862115)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31973413..31976686)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31939702-31940412 Neighboring gene serine/threonine kinase 19 Neighboring gene decapping exoribonuclease Neighboring gene complement C4A (Chido/Rodgers blood group) Neighboring gene CYP21A1P recombination region Neighboring gene tenascin XA (pseudogene) recombination region Neighboring gene tenascin XA (pseudogene) Neighboring gene serine/threonine kinase 19B (pseudogene) Neighboring gene complement C4B (Chido/Rodgers blood group) Neighboring gene CYP21A2 5' regulatory region

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. Lao Q, et al. J Mol Diagn, 2019 Sep. PMID 31229653, Free PMC Article
    2. Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes. Tsai LP, et al. Anal Biochem, 2011 Jun 15. PMID 21324303
    3. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. Votava F, et al. Eur J Endocrinol, 2005 Jun. PMID 15941926
    4. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. Lee HH, et al. Mol Genet Metab, 2008 Apr. PMID 18039588
    5. [Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]. Tao H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Apr. PMID 15793784

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes are associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
      Title: High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
    2. The variants reveal that traditional recognition of CYP21A1P gene based on the TaqI fragment size analysis may lead to misinterpretation and interfere with the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
      Title: Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
    3. Pseudogene of the CYP21A1P mutation presents diverse variants. it may be misdiagnosed by previously established methods for congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency.
      Title: Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
    4. Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%).
      Title: Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    5. We describe a new CYP21A1P/CYP21A2 chimera (CH-6), associated with the HLA-B15, DR13 haplotype, in a young Italian congenital adrenal hyperplasia patient
      Title: A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    6. demonstration of diversity associated with gene copy-number variation of complement C4, CYP21 & tenascin; also offers an explanation for low prevalence of systemic lupus erythematosus but high incidence of congenital adrenal hyperplasia in Asian-Indians
      Title: Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations.
    7. Observational study of genetic testing. (HuGE Navigator)
      Title: Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
    9. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.
    10. There are ethnic-specific mutations in the CYP21A2 gene.
      Title: Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
    • cytochrome P450, subfamily XXI (steroid 21-hydroxylase) pseudogene
    • cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene

    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.

    RNA

    1. NR_040090.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL645922
      Related
      ENST00000342991.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      32005636..32008909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      3253411..3256684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3306825..3310098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31858842..31862115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001111.1: Suppressed sequence

      Description
      NG_001111.1: This RefSeq was permanently suppressed since this pseudogene is currently represented on a region reference sequence for the bimodular haplotype of the MHC class III complement gene cluster on chr 6.
    Nucleotide Protein
    Heading Accession and Version

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