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

    Gene ID: 3295, updated on 5-Nov-2017
    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]
    Orthologs
    Location:
    5q23.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp761G1921

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    androgen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    medium-chain fatty-acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very long-chain fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    very long-chain fatty-acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
    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

    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: VALIDATED

      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, ENST00000256216.10, 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
      ENSP00000420914.1, OTTHUMP00000222965, ENST00000504811.5, 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: VALIDATED

      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
      ENSP00000424940.1, OTTHUMP00000222967, ENST00000510025.5, 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
      ENSP00000411960.2, OTTHUMP00000222966, ENST00000414835.6, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      118221090..118311127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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