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HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 [ Homo sapiens (human) ]

Gene ID: 3295, updated on 11-Apr-2024

Summary

Official Symbol
HSD17B4provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 4provided by HGNC
Primary source
HGNC:HGNC:5213
See related
Ensembl:ENSG00000133835 MIM:601860; AllianceGenome:HGNC:5213
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
Also known as
DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1
Summary
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Expression
Ubiquitous expression in liver (RPKM 94.4), thyroid (RPKM 88.0) and 25 other tissues See more
Orthologs
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Genomic context

Location:
5q23.1
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (119452497..119542332)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119973333..120063188)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118788192..118878027)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TNF alpha induced protein 8 Neighboring gene uncharacterized LOC102723444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16265 Neighboring gene Sharpr-MPRA regulatory region 6110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22983 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:118726761-118726918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22986 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118737716-118738284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118740092-118740592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22987 Neighboring gene Sharpr-MPRA regulatory region 10011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22989 Neighboring gene RNA, 5S ribosomal pseudogene 190 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118794469-118795121 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:118797267-118797484 Neighboring gene uncharacterized LOC124901215 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:118805521-118806252 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:118806253-118806984 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118815935-118816518 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118816519-118817102 Neighboring gene Sharpr-MPRA regulatory region 15152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22990 Neighboring gene ribosomal protein L21 pseudogene 58 Neighboring gene fatty acid binding protein 5 pseudogene 6

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp761G1921

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
located_in peroxisomal membrane HDA PubMed 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisome NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
peroxisomal multifunctional enzyme type 2
Names
17-beta-HSD 4
17-beta-HSD IV
17-beta-hydroxysteroid dehydrogenase 4
17beta-estradiol dehydrogenase type IV
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
D-3-hydroxyacyl-CoA dehydratase
D-bifunctional protein, peroxisomal
beta-hydroxyacyl dehydrogenase
beta-keto-reductase
epididymis secretory sperm binding protein
hydroxysteroid dehydrogenase 4
multifunctional protein 2
peroxisomal multifunctional protein 2
short chain dehydrogenase/reductase family 8C member 1
NP_000405.1
NP_001186220.1
NP_001186221.1
NP_001278956.1
NP_001278957.1
NP_001361426.1
NP_001361427.1
NP_001361428.1
NP_001361429.1
NP_001361430.1
NP_001361431.1
NP_001361432.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_008182.1 RefSeqGene

    Range
    5045..94880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000414.4NP_000405.1  peroxisomal multifunctional enzyme type 2 isoform 2

    See identical proteins and their annotated locations for NP_000405.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK312449, BC003098
    Consensus CDS
    CCDS4126.1
    UniProtKB/Swiss-Prot
    B4DNV1, B4DVS5, E9PB82, F5HE57, P51659
    UniProtKB/TrEMBL
    A0A0S2Z4J1, B2R659
    Related
    ENSP00000424940.3, ENST00000510025.7
    Conserved Domains (3) summary
    PLN02864
    Location:328605
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:5254
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    pfam02036
    Location:628731
    SCP2; SCP-2 sterol transfer family
  2. NM_001199291.3NP_001186220.1  peroxisomal multifunctional enzyme type 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK298075, AK312449, BC003098
    Consensus CDS
    CCDS56379.1
    UniProtKB/TrEMBL
    B4DSD0
    Related
    ENSP00000411960.3, ENST00000414835.7
    Conserved Domains (5) summary
    PLN02864
    Location:353630
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:61279
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    cd03448
    Location:510631
    HDE_HSD; HDE_HSD The R-hydratase-like hot dog fold of the 17-beta-hydroxysteriod dehydrogenase (HSD), and Hydratase-Dehydrogenase-Epimerase (HDE) proteins. Other enzymes with this fold include MaoC dehydratase, and the fatty acid synthase beta subunit.
    pfam02036
    Location:653756
    SCP2; SCP-2 sterol transfer family
    cl00509
    Location:400468
    hot_dog; The hotdog fold was initially identified in the E. coli FabA (beta-hydroxydecanoyl-acyl carrier protein (ACP)-dehydratase) structure and subsequently in 4HBT (4-hydroxybenzoyl-CoA thioesterase) from Pseudomonas. A number of other seemingly unrelated ...
  3. NM_001199292.2NP_001186221.1  peroxisomal multifunctional enzyme type 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK301212, AK312449, BC003098
    Consensus CDS
    CCDS56378.1
    UniProtKB/TrEMBL
    B2R659
    Related
    ENSP00000424613.1, ENST00000515320.5
    Conserved Domains (6) summary
    PLN02864
    Location:310587
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:5236
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    PRK05653
    Location:6208
    fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated
    cd03448
    Location:467588
    HDE_HSD; HDE_HSD The R-hydratase-like hot dog fold of the 17-beta-hydroxysteriod dehydrogenase (HSD), and Hydratase-Dehydrogenase-Epimerase (HDE) proteins. Other enzymes with this fold include MaoC dehydratase, and the fatty acid synthase beta subunit.
    pfam02036
    Location:610713
    SCP2; SCP-2 sterol transfer family
    cl00509
    Location:357425
    hot_dog; The hotdog fold was initially identified in the E. coli FabA (beta-hydroxydecanoyl-acyl carrier protein (ACP)-dehydratase) structure and subsequently in 4HBT (4-hydroxybenzoyl-CoA thioesterase) from Pseudomonas. A number of other seemingly unrelated ...
  4. NM_001292027.2NP_001278956.1  peroxisomal multifunctional enzyme type 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' region, which causes translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK298075, AK312449, BC003098, DA508630
    UniProtKB/TrEMBL
    B4DSD0
    Conserved Domains (5) summary
    PLN02864
    Location:304581
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:12230
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    cd03448
    Location:461582
    HDE_HSD; HDE_HSD The R-hydratase-like hot dog fold of the 17-beta-hydroxysteriod dehydrogenase (HSD), and Hydratase-Dehydrogenase-Epimerase (HDE) proteins. Other enzymes with this fold include MaoC dehydratase, and the fatty acid synthase beta subunit.
    pfam02036
    Location:604707
    SCP2; SCP-2 sterol transfer family
    cl00509
    Location:351419
    hot_dog; The hotdog fold was initially identified in the E. coli FabA (beta-hydroxydecanoyl-acyl carrier protein (ACP)-dehydratase) structure and subsequently in 4HBT (4-hydroxybenzoyl-CoA thioesterase) from Pseudomonas. A number of other seemingly unrelated ...
  5. NM_001292028.2NP_001278957.1  peroxisomal multifunctional enzyme type 2 isoform 5

    See identical proteins and their annotated locations for NP_001278957.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 5' region, which causes translation initiation at a downstream start codon, and also has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (5) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK094049, AU105854, BC003098, CB067275
    UniProtKB/TrEMBL
    B3KSP2
    Conserved Domains (5) summary
    PLN02864
    Location:188465
    PLN02864; enoyl-CoA hydratase
    cd03448
    Location:345466
    HDE_HSD; HDE_HSD The R-hydratase-like hot dog fold of the 17-beta-hydroxysteriod dehydrogenase (HSD), and Hydratase-Dehydrogenase-Epimerase (HDE) proteins. Other enzymes with this fold include MaoC dehydratase, and the fatty acid synthase beta subunit.
    pfam02036
    Location:488591
    SCP2; SCP-2 sterol transfer family
    cl00509
    Location:235303
    hot_dog; The hotdog fold was initially identified in the E. coli FabA (beta-hydroxydecanoyl-acyl carrier protein (ACP)-dehydratase) structure and subsequently in 4HBT (4-hydroxybenzoyl-CoA thioesterase) from Pseudomonas. A number of other seemingly unrelated ...
    cl21454
    Location:1114
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  6. NM_001374497.1NP_001361426.1  peroxisomal multifunctional enzyme type 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC024564
    UniProtKB/TrEMBL
    B2R659
    Conserved Domains (3) summary
    PLN02864
    Location:325602
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:5251
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    pfam02036
    Location:625728
    SCP2; SCP-2 sterol transfer family
  7. NM_001374498.1NP_001361427.1  peroxisomal multifunctional enzyme type 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC024564
    Consensus CDS
    CCDS93762.1
    UniProtKB/TrEMBL
    A0A804HK65, E7EPL9
    Related
    ENSP00000507792.1, ENST00000682996.1
    Conserved Domains (3) summary
    PLN02864
    Location:328581
    PLN02864; enoyl-CoA hydratase
    cd05353
    Location:5254
    hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs
    pfam02036
    Location:604707
    SCP2; SCP-2 sterol transfer family
  8. NM_001374499.1NP_001361428.1  peroxisomal multifunctional enzyme type 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC024564
    UniProtKB/TrEMBL
    B4DI68
    Conserved Domains (3) summary
    PLN02864
    Location:219496
    PLN02864; enoyl-CoA hydratase
    pfam02036
    Location:519622
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:8145
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  9. NM_001374500.1NP_001361429.1  peroxisomal multifunctional enzyme type 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC024564
    Consensus CDS
    CCDS93764.1
    UniProtKB/TrEMBL
    A0A2R8Y7L2, B3KSP2
    Related
    ENSP00000496091.1, ENST00000645099.1
    Conserved Domains (3) summary
    PLN02864
    Location:181458
    PLN02864; enoyl-CoA hydratase
    pfam02036
    Location:481583
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1107
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  10. NM_001374501.1NP_001361430.1  peroxisomal multifunctional enzyme type 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 11 and 12, encodes isoform 10.
    Source sequence(s)
    AC024564
    Consensus CDS
    CCDS93763.1
    UniProtKB/TrEMBL
    B4DI68, E7ET17
    Related
    ENSP00000425993.1, ENST00000513628.5
    Conserved Domains (3) summary
    PLN02864
    Location:191468
    PLN02864; enoyl-CoA hydratase
    pfam02036
    Location:491594
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1117
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  11. NM_001374502.1NP_001361431.1  peroxisomal multifunctional enzyme type 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 10 and 12, encodes isoform 10.
    Source sequence(s)
    AC024564
    Consensus CDS
    CCDS93763.1
    UniProtKB/TrEMBL
    B4DI68, E7ET17
    Conserved Domains (3) summary
    PLN02864
    Location:191468
    PLN02864; enoyl-CoA hydratase
    pfam02036
    Location:491594
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1117
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  12. NM_001374503.1NP_001361432.1  peroxisomal multifunctional enzyme type 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 10 and 11, encodes isoform 10.
    Source sequence(s)
    AC024564
    Consensus CDS
    CCDS93763.1
    UniProtKB/TrEMBL
    B4DI68, E7ET17
    Conserved Domains (3) summary
    PLN02864
    Location:191468
    PLN02864; enoyl-CoA hydratase
    pfam02036
    Location:491594
    SCP2; SCP-2 sterol transfer family
    cl21454
    Location:1117
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. NR_164653.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC024564
    Related
    ENST00000442060.7
  2. NR_164654.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC024564
    Related
    ENST00000643250.1

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    119452497..119542332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    119973333..120063188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)