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

Gene ID: 3295, updated on 4-Nov-2018

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; Vega:OTTHUMG00000128899
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; 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

Genomic context

See HSD17B4 in Genome Data Viewer
Location:
5q23.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (119452443..119542335)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118788138..118878030)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TNF alpha induced protein 8 Neighboring gene uncharacterized LOC102723444 Neighboring gene RNA, 5S ribosomal pseudogene 190 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761G1921

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisomal membrane HDA PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
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

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_008182.1 RefSeqGene

    Range
    4991..94883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000414.3NP_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, CX782401, DA508630
    Consensus CDS
    CCDS4126.1
    UniProtKB/Swiss-Prot
    P51659
    UniProtKB/TrEMBL
    A0A0S2Z4J1, B2R659
    Related
    ENSP00000256216.6, OTTHUMP00000159141, ENST00000256216.11, OTTHUMT00000250863
    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_001199291.2NP_001186220.1  peroxisomal multifunctional enzyme type 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK298075, AK312449, BC003098, CX782401
    Consensus CDS
    CCDS56379.1
    UniProtKB/Swiss-Prot
    P51659
    UniProtKB/TrEMBL
    B2R659
    Related
    ENSP00000411960.3, OTTHUMP00000222965, ENST00000414835.7, OTTHUMT00000371139
    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_001199292.1NP_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, CX782401, DA508630
    Consensus CDS
    CCDS56378.1
    UniProtKB/Swiss-Prot
    P51659
    UniProtKB/TrEMBL
    B2R659
    Related
    ENSP00000424613.1, OTTHUMP00000222964, ENST00000515320.5, OTTHUMT00000371138
    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_001292027.1NP_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, CX782401, DA508630
    Consensus CDS
    CCDS78051.1
    UniProtKB/Swiss-Prot
    P51659
    UniProtKB/TrEMBL
    B2R659, E7EWE5
    Related
    ENSP00000494133.1, OTTHUMP00000222967, ENST00000646125.1, OTTHUMT00000371141
    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_001292028.1NP_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, CX782401
    Consensus CDS
    CCDS78052.1
    UniProtKB/Swiss-Prot
    P51659
    UniProtKB/TrEMBL
    B3KSP2, G5E9S2
    Related
    ENSP00000493642.1, OTTHUMP00000222966, ENST00000646646.1, OTTHUMT00000371140
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    119452443..119542335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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