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

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: mouse all
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Genomic context

Location:: 5q23.1

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (119452497..119542332)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (119973333..120063188)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (118788192..118878027)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Title: Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity.
Title: HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity.
The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine.
Title: The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine.
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
Title: Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.
Title: Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.
In HEK293 cells, the D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid.
Title: Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
HSD17B4 overexpression increased STAT3 activation.
Title: 17β‑hydroxysteroid dehydrogenase 4 induces liver cancer proliferation‑associated genes via STAT3 activation.
This study reveals a crosstalk between acetylation and chaperone-mediated autophagy degradation in HSD17B4 regulation.
Title: Acetylation targets HSD17B4 for degradation via the CMA pathway in response to estrone.
we identified that methylation of the promoter CpG island of HSD17B4 was associated with the pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy with a specificity of 79%
Title: Pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy can be predicted by HSD17B4 methylation.
Our findings supported that HSD17B4 was one of the genes contributing to Perrault syndrome in this consanguineous Chinese Han family.
Title: A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bifunctional peroxisomal enzyme deficiency MedGen: C0342870 OMIM: 261515 GeneReviews: Not available	Compare labs
Perrault syndrome 1 MedGen: C4551721 OMIM: 233400 GeneReviews: Perrault Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11223 (e-PCR)
- UniSTS:66055

STS-X87176 (e-PCR)
- UniSTS:76865

G19767 (e-PCR)
- UniSTS:35495

A001X47 (e-PCR)
- UniSTS:35496

D8S1438E (e-PCR)
- UniSTS:151227

HSD17B4_2652 (e-PCR)
- UniSTS:280766

D5S1384 (e-PCR)
- UniSTS:149193

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxyacyl-CoA dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxyacyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	IEA Inferred from Electronic Annotation more info
enables enoyl-CoA hydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables enoyl-CoA hydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Sertoli cell development	IEA Inferred from Electronic Annotation more info
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in medium-chain fatty-acyl-CoA metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in very long-chain fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty-acyl-CoA metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisomal membrane	HDA more info	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

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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

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001186220.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001186221.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001278956.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001278957.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361426.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361427.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361428.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361429.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361430.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361431.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

NP_001361432.1

EC 1.1.1.n12

EC 4.2.1.107

EC 4.2.1.119

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.

Genomic

NG_008182.1 RefSeqGene

Range

5045..94880

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000414.4 → NP_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:328 → 605

PLN02864; enoyl-CoA hydratase

cd05353
Location:5 → 254

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

pfam02036
Location:628 → 731

SCP2; SCP-2 sterol transfer family
NM_001199291.3 → NP_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:353 → 630

PLN02864; enoyl-CoA hydratase

cd05353
Location:61 → 279

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

cd03448
Location:510 → 631

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:653 → 756

SCP2; SCP-2 sterol transfer family

cl00509
Location:400 → 468

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 ...
NM_001199292.2 → NP_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:310 → 587

PLN02864; enoyl-CoA hydratase

cd05353
Location:5 → 236

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

PRK05653
Location:6 → 208

fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated

cd03448
Location:467 → 588

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:610 → 713

SCP2; SCP-2 sterol transfer family

cl00509
Location:357 → 425

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 ...
NM_001292027.2 → NP_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:304 → 581

PLN02864; enoyl-CoA hydratase

cd05353
Location:12 → 230

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

cd03448
Location:461 → 582

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:604 → 707

SCP2; SCP-2 sterol transfer family

cl00509
Location:351 → 419

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 ...
NM_001292028.2 → NP_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:188 → 465

PLN02864; enoyl-CoA hydratase

cd03448
Location:345 → 466

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:488 → 591

SCP2; SCP-2 sterol transfer family

cl00509
Location:235 → 303

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:1 → 114

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001374497.1 → NP_001361426.1 peroxisomal multifunctional enzyme type 2 isoform 6

Status: REVIEWED

Source sequence(s)

AC024564

UniProtKB/TrEMBL

B2R659

Conserved Domains (3) summary

PLN02864
Location:325 → 602

PLN02864; enoyl-CoA hydratase

cd05353
Location:5 → 251

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

pfam02036
Location:625 → 728

SCP2; SCP-2 sterol transfer family
NM_001374498.1 → NP_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:328 → 581

PLN02864; enoyl-CoA hydratase

cd05353
Location:5 → 254

hydroxyacyl-CoA-like_DH_SDR_c-like; (3R)-hydroxyacyl-CoA dehydrogenase-like, classical(c)-like SDRs

pfam02036
Location:604 → 707

SCP2; SCP-2 sterol transfer family
NM_001374499.1 → NP_001361428.1 peroxisomal multifunctional enzyme type 2 isoform 8

Status: REVIEWED

Source sequence(s)

AC024564

UniProtKB/TrEMBL

B4DI68

Conserved Domains (3) summary

PLN02864
Location:219 → 496

PLN02864; enoyl-CoA hydratase

pfam02036
Location:519 → 622

SCP2; SCP-2 sterol transfer family

cl21454
Location:8 → 145

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001374500.1 → NP_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:181 → 458

PLN02864; enoyl-CoA hydratase

pfam02036
Location:481 → 583

SCP2; SCP-2 sterol transfer family

cl21454
Location:1 → 107

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001374501.1 → NP_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:191 → 468

PLN02864; enoyl-CoA hydratase

pfam02036
Location:491 → 594

SCP2; SCP-2 sterol transfer family

cl21454
Location:1 → 117

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001374502.1 → NP_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:191 → 468

PLN02864; enoyl-CoA hydratase

pfam02036
Location:491 → 594

SCP2; SCP-2 sterol transfer family

cl21454
Location:1 → 117

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001374503.1 → NP_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:191 → 468

PLN02864; enoyl-CoA hydratase

pfam02036
Location:491 → 594

SCP2; SCP-2 sterol transfer family

cl21454
Location:1 → 117

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

NR_164653.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC024564

Related

ENST00000442060.7
NR_164654.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC024564

Related

ENST00000643250.1