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CYP39A1 cytochrome P450 family 39 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 51302, updated on 29-Mar-2020

Summary

Official Symbol
CYP39A1provided by HGNC
Official Full Name
cytochrome P450 family 39 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:17449
See related
Ensembl:ENSG00000146233 MIM:605994
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Broad expression in liver (RPKM 10.7), prostate (RPKM 4.4) and 14 other tissues See more
Orthologs

Genomic context

See CYP39A1 in Genome Data Viewer
Location:
6p12.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (46549580..46652849, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46517317..46620567, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene regulator of calcineurin 2 Neighboring gene ribosomal protein L36 pseudogene 10 Neighboring gene uncharacterized LOC101926898 Neighboring gene uncharacterized LOC101926934 Neighboring gene solute carrier family 25 member 27 Neighboring gene tudor domain containing 6 Neighboring gene phospholipase A2 group VII

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxysterol 7-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxysterol 7-alpha-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxysterol 7-alpha-hydroxylase activity TAS
Traceable Author Statement
more info
 
steroid 7-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol catabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
digestion TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
24-hydroxycholesterol 7-alpha-hydroxylase
Names
cytochrome P450, family 39, subfamily A, polypeptide 1
cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1
NP_001265667.1
NP_001265668.1
NP_057677.2
XP_005249228.1
XP_011512960.1
XP_016866410.1
XP_016866411.1
XP_016866412.1
XP_016866413.1
XP_016866414.1
XP_024302220.1
XP_024302221.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007962.1 RefSeqGene

    Range
    4969..108207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278738.1NP_001265667.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK292263, AK301604, AL035670, DC336695
    UniProtKB/Swiss-Prot
    Q9NYL5
    UniProtKB/TrEMBL
    B7Z786
    Conserved Domains (1) summary
    cl12078
    Location:35440
    p450; Cytochrome P450
  2. NM_001278739.1NP_001265668.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK292263, AK307986, AL035670, DC336695
    Consensus CDS
    CCDS75465.1
    UniProtKB/Swiss-Prot
    Q9NYL5
    UniProtKB/TrEMBL
    A0A087WTD2
    Related
    ENSP00000477769.1, ENST00000619708.4
    Conserved Domains (1) summary
    cl12078
    Location:111288
    p450; Cytochrome P450
  3. NM_016593.5NP_057677.2  24-hydroxycholesterol 7-alpha-hydroxylase isoform 1

    See identical proteins and their annotated locations for NP_057677.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK292263, AL035670, DC336695
    Consensus CDS
    CCDS4916.1
    UniProtKB/Swiss-Prot
    Q9NYL5
    Related
    ENSP00000275016.2, ENST00000275016.3
    Conserved Domains (1) summary
    cl12078
    Location:35460
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    46549580..46652849 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010925.1XP_016866414.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X9

  2. XM_017010924.1XP_016866413.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X4

  3. XM_011514658.1XP_011512960.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X7

    Conserved Domains (1) summary
    cl12078
    Location:35354
    p450; Cytochrome P450
  4. XM_024446452.1XP_024302220.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X6

    Conserved Domains (1) summary
    cl12078
    Location:72349
    p450; Cytochrome P450
  5. XM_024446453.1XP_024302221.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X8

    Conserved Domains (1) summary
    cl12078
    Location:19296
    p450; Cytochrome P450
  6. XM_017010923.1XP_016866412.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X3

  7. XM_017010922.1XP_016866411.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X2

  8. XM_017010921.1XP_016866410.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X1

  9. XM_005249171.4XP_005249228.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X5

    Conserved Domains (1) summary
    cl12078
    Location:35417
    p450; Cytochrome P450
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