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UniProtKB - Q16836 (HCDH_HUMAN)

Entry version 211 (07 Oct 2020)
Sequence version 3 (02 Nov 2010)
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Protein

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial

Gene

HADH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity).By similarity3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=34.5 µM for acetoacetyl-CoA at pH 5.01 Publication
  2. KM=45.0 µM for acetoacetyl-CoA at pH 6.01 Publication
  3. KM=18.7 µM for acetoacetyl-CoA at pH 7.01 Publication
  4. KM=13.8 µM for acetoacetyl-CoA at pH 8.01 Publication
  5. KM=11.9 µM for acetoacetyl-CoA1 Publication
  6. KM=24.2 µM for NADH1 Publication
  1. Vmax=281 µmol/min/mg enzyme with acetoacetyl-CoA as substrate at PH 5.01 Publication
  2. Vmax=448 µmol/min/mg enzyme with acetoacetyl-CoA as substrate at PH 6.01 Publication
  3. Vmax=459 µmol/min/mg enzyme with acetoacetyl-CoA as substrate at PH 6.01 Publication
  4. Vmax=205 µmol/min/mg enzyme with acetoacetyl-CoA as substrate at PH 8.01 Publication

pH dependencei

Optimum at neutral pH.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei57NAD2 Publications1
Binding sitei73Coenzyme A1 Publication1
Binding sitei80Coenzyme A1 Publication1
Binding sitei122NAD2 Publications1
Binding sitei127NAD2 Publications1
Binding sitei149Coenzyme A1 Publication1
Binding sitei149NAD2 Publications1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei170Important for catalytic activityCurated1
Binding sitei173NAD2 Publications1
Binding sitei305NAD2 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi34 – 39NAD2 Publications6

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase, Transferase
Biological processFatty acid metabolism, Lipid metabolism
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS06563-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.1.1.35, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q16836

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-77310, Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348, Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350, Beta oxidation of hexanoyl-CoA to butanoyl-CoA
R-HSA-77352, Beta oxidation of butanoyl-CoA to acetyl-CoA

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q16836

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00659

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001250

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (EC:1.1.1.353 Publications)
Short name:
HCDH
Alternative name(s):
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
Short-chain 3-hydroxyacyl-CoA dehydrogenase1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HADH
Synonyms:HAD1 Publication, HAD11 Publication, HADHSC, SCHAD1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000138796.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:4799, HADH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601609, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q16836

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02407940A → T in HADH deficiency. 1 PublicationCorresponds to variant dbSNP:rs137853101EnsemblClinVar.1
Natural variantiVAR_02408057D → E in HADH deficiency. 1 PublicationCorresponds to variant dbSNP:rs137853102EnsemblClinVar.1
Familial hyperinsulinemic hypoglycemia 4 (HHF4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMost common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024081258P → L in HHF4; loss of 3-hydroxyacyl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs137853103EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3033

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		HADH

MalaCards human disease database

More...MalaCardsi		HADH
MIMi231530, phenotype
609975, phenotype

Open Targets

More...OpenTargetsi		ENSG00000138796

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		71212, Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29173

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q16836, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB03612, 3-Hydroxybutyryl-Coenzyme A
DB03059, Acetoacetyl-CoA
DB00157, NADH
DB09568, Omega-3-carboxylic acids

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HADH

Domain mapping of disease mutations (DMDM)

More...DMDMi		311033442

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 12Mitochondrion1 PublicationAdd BLAST12
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000740613 – 314Hydroxyacyl-coenzyme A dehydrogenase, mitochondrialAdd BLAST302

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei80N6-succinyllysineBy similarity1
Modified residuei81N6-acetyllysine; alternateBy similarity1
Modified residuei81N6-succinyllysine; alternateBy similarity1
Modified residuei87N6-acetyllysine; alternateBy similarity1
Modified residuei87N6-succinyllysine; alternateBy similarity1
Modified residuei125N6-acetyllysineBy similarity1
Modified residuei136N6-acetyllysine; alternateBy similarity1
Modified residuei136N6-succinyllysine; alternateBy similarity1
Modified residuei179N6-acetyllysineBy similarity1
Modified residuei185N6-acetyllysine; alternateCombined sources1
Modified residuei185N6-succinyllysine; alternateBy similarity1
Modified residuei192N6-acetyllysine; alternateBy similarity1
Modified residuei192N6-succinyllysine; alternateBy similarity1
Modified residuei202N6-acetyllysine; alternateCombined sources1
Modified residuei202N6-succinyllysine; alternateBy similarity1
Modified residuei206N6-succinyllysineBy similarity1
Modified residuei212N6-acetyllysine; alternateBy similarity1
Modified residuei212N6-succinyllysine; alternateBy similarity1
Modified residuei241N6-acetyllysine; alternateCombined sources1
Modified residuei241N6-succinyllysine; alternateBy similarity1
Modified residuei312N6-acetyllysine; alternateCombined sources1
Modified residuei312N6-succinyllysine; alternateBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5.By similarity

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q16836

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q16836

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q16836

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q16836

PeptideAtlas

More...PeptideAtlasi		Q16836

PRoteomics IDEntifications database

More...PRIDEi		Q16836

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61096 [Q16836-1]
61097 [Q16836-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q16836-1 [Q16836-1]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00298406

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		Q16836

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q16836

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q16836

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q16836

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in liver, kidney, pancreas, heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138796, Expressed in parietal pleura and 245 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q16836, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q16836, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000138796, Tissue enhanced (heart)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:10231530, PubMed:10840044, PubMed:16725361).

Interacts with GLUD1; this interaction inhibits the activation of glutamate dehydrogenase 1 (GLUD1) (By similarity).

By similarity3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109283, 48 interactors

Protein interaction database and analysis system

More...IntActi		Q16836, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000474560

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q16836, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1314
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q16836

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q16836

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2304, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159984

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009834_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q16836

KEGG Orthology (KO)

More...KOi		K00022

Database of Orthologous Groups

More...OrthoDBi		938257at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q16836

TreeFam database of animal gene trees

More...TreeFami		TF300886

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1040.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR022694, 3-OHacyl-CoA_DH
IPR006180, 3-OHacyl-CoA_DH_CS
IPR006176, 3-OHacyl-CoA_DH_NAD-bd
IPR006108, 3HC_DH_C
IPR008927, 6-PGluconate_DH-like_C_sf
IPR013328, 6PGD_dom2
IPR036291, NAD(P)-bd_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00725, 3HCDH, 1 hit
PF02737, 3HCDH_N, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000105, HCDH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48179, SSF48179, 1 hit
SSF51735, SSF51735, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00067, 3HCDH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16836-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAFVTRQFMR SVSSSSTASA SAKKIIVKHV TVIGGGLMGA GIAQVAAATG 
        60         70         80         90        100
HTVVLVDQTE DILAKSKKGI EESLRKVAKK KFAENLKAGD EFVEKTLSTI 
       110        120        130        140        150
ATSTDAASVV HSTDLVVEAI VENLKVKNEL FKRLDKFAAE HTIFASNTSS 
       160        170        180        190        200
LQITSIANAT TRQDRFAGLH FFNPVPVMKL VEVIKTPMTS QKTFESLVDF 
       210        220        230        240        250
SKALGKHPVS CKDTPGFIVN RLLVPYLMEA IRLYERGDAS KEDIDTAMKL 
       260        270        280        290        300
GAGYPMGPFE LLDYVGLDTT KFIVDGWHEM DAENPLHQPS PSLNKLVAEN 
       310 
KFGKKTGEGF YKYK
Length:314
Mass (Da):34,294
Last modified:November 2, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0C6F7C01BBCE646A
GO
Isoform 2 (identifier: Q16836-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRAGLEAPPPPCGVTGTPGARGLQGRVGPRPQSLAFRGCLPRASSLPGSPRCRRRCHTM
     236-236: R → RDFQTCGDSNSGLGFSLK

Show »
Length:390
Mass (Da):42,140
Checksum:i3C20D80AAC4EB142
GO
Isoform 3 (identifier: Q16836-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-236: R → RDFQTCGDSNSGLGFSLK

Show »
Length:331
Mass (Da):36,051
Checksum:i11B5646AD077A666
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MSE2A0A0A0MSE2_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
317Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFP2A0A0D9SFP2_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
318Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PNM1A0A1W2PNM1_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
267Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PF18E9PF18_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
390Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQV5A0A1W2PQV5_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
245Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQ78A0A1W2PQ78_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP40A0A1W2PP40_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQC2A0A1W2PQC2_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRT2A0A1W2PRT2_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQ55A0A1W2PQ55_HUMAN
Hydroxyacyl-coenzyme A dehydrogenas...
HADH
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q16836-2)
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41L → P in AAB58153 (Ref. 2) Curated1
Sequence conflicti56R → H in AAB58153 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02407940A → T in HADH deficiency. 1 PublicationCorresponds to variant dbSNP:rs137853101EnsemblClinVar.1
Natural variantiVAR_02408057D → E in HADH deficiency. 1 PublicationCorresponds to variant dbSNP:rs137853102EnsemblClinVar.1
Natural variantiVAR_08364857D → G Found in a patient with Reye-like syndrome. Does not affect 3-hydroxyacyl-CoA dehydrogenase activity. Increases KM value for NADH. Does not affect dimerization. 1 Publication1
Natural variantiVAR_02676486L → P4 PublicationsCorresponds to variant dbSNP:rs4956145EnsemblClinVar.1
Natural variantiVAR_055701152Q → H1 PublicationCorresponds to variant dbSNP:rs1051519EnsemblClinVar.1
Natural variantiVAR_083649226Y → H Found in a patient with Reye-like syndrome; loss of 3-hydroxyacyl-CoA dehydrogenase activity. Does not affect dimerization. 1 Publication1
Natural variantiVAR_024081258P → L in HHF4; loss of 3-hydroxyacyl-CoA dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs137853103EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0165511M → MGRAGLEAPPPPCGVTGTPG ARGLQGRVGPRPQSLAFRGC LPRASSLPGSPRCRRRCHTM in isoform 2. 1 Publication1
Alternative sequenceiVSP_016552236R → RDFQTCGDSNSGLGFSLK in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X96752 mRNA Translation: CAA65528.1
AF001902 mRNA Translation: AAB54008.1
AF001903 mRNA Translation: AAB54009.1
AF001904 Genomic DNA Translation: AAB58153.1
AF095703 Genomic DNA Translation: AAD13581.1
AC114733 Genomic DNA Translation: AAY41050.1
AC118062 Genomic DNA No translation available.
BC000306 mRNA Translation: AAH00306.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3678.1 [Q16836-1]
CCDS54790.1 [Q16836-3]

Protein sequence database of the Protein Information Resource

More...PIRi		JC4879

NCBI Reference Sequences

More...RefSeqi		NP_001171634.2, NM_001184705.2
NP_005318.3, NM_005327.4 [Q16836-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000309522; ENSP00000312288; ENSG00000138796 [Q16836-1]
ENST00000603302; ENSP00000474560; ENSG00000138796 [Q16836-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3033

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3033

UCSC genome browser

More...UCSCi		uc003hyq.4, human [Q16836-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X96752 mRNA Translation: CAA65528.1
AF001902 mRNA Translation: AAB54008.1
AF001903 mRNA Translation: AAB54009.1
AF001904 Genomic DNA Translation: AAB58153.1
AF095703 Genomic DNA Translation: AAD13581.1
AC114733 Genomic DNA Translation: AAY41050.1
AC118062 Genomic DNA No translation available.
BC000306 mRNA Translation: AAH00306.1
CCDSiCCDS3678.1 [Q16836-1]
CCDS54790.1 [Q16836-3]
PIRiJC4879
RefSeqiNP_001171634.2, NM_001184705.2
NP_005318.3, NM_005327.4 [Q16836-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1F0YX-ray1.80A/B13-314[»]
1F12X-ray2.40A/B13-314[»]
1F14X-ray2.30A/B13-314[»]
1F17X-ray2.30A/B13-314[»]
1IL0X-ray2.20A/B13-314[»]
1LSJX-ray2.50A/B13-314[»]
1LSOX-ray2.60A/B13-314[»]
1M75X-ray2.30A/B13-314[»]
1M76X-ray2.15A/B13-314[»]
2HDHX-ray2.20A/B24-314[»]
3HADX-ray2.00A/B13-314[»]
3RQSX-ray2.00A/B1-314[»]
SMRiQ16836
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109283, 48 interactors
IntActiQ16836, 5 interactors
STRINGi9606.ENSP00000474560

Chemistry databases

DrugBankiDB03612, 3-Hydroxybutyryl-Coenzyme A
DB03059, Acetoacetyl-CoA
DB00157, NADH
DB09568, Omega-3-carboxylic acids
SwissLipidsiSLP:000001250

PTM databases

iPTMnetiQ16836
PhosphoSitePlusiQ16836
SwissPalmiQ16836

Polymorphism and mutation databases

BioMutaiHADH
DMDMi311033442

2D gel databases

REPRODUCTION-2DPAGEiIPI00298406
UCD-2DPAGEiQ16836

Proteomic databases

EPDiQ16836
jPOSTiQ16836
MassIVEiQ16836
MaxQBiQ16836
PeptideAtlasiQ16836
PRIDEiQ16836
ProteomicsDBi61096 [Q16836-1]
61097 [Q16836-2]
TopDownProteomicsiQ16836-1 [Q16836-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26260, 542 antibodies

The DNASU plasmid repository

More...DNASUi		3033

Genome annotation databases

EnsembliENST00000309522; ENSP00000312288; ENSG00000138796 [Q16836-1]
ENST00000603302; ENSP00000474560; ENSG00000138796 [Q16836-3]
GeneIDi3033
KEGGihsa:3033
UCSCiuc003hyq.4, human [Q16836-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3033
DisGeNETi3033
EuPathDBiHostDB:ENSG00000138796.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		HADH
GeneReviewsiHADH
HGNCiHGNC:4799, HADH
HPAiENSG00000138796, Tissue enhanced (heart)
MalaCardsiHADH
MIMi231530, phenotype
601609, gene
609975, phenotype
neXtProtiNX_Q16836
OpenTargetsiENSG00000138796
Orphaneti71212, Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
PharmGKBiPA29173

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2304, Eukaryota
GeneTreeiENSGT00940000159984
HOGENOMiCLU_009834_2_0_1
InParanoidiQ16836
KOiK00022
OrthoDBi938257at2759
PhylomeDBiQ16836
TreeFamiTF300886

Enzyme and pathway databases

UniPathwayiUPA00659
BioCyciMetaCyc:HS06563-MONOMER
BRENDAi1.1.1.35, 2681
PathwayCommonsiQ16836
ReactomeiR-HSA-77310, Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346, Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348, Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350, Beta oxidation of hexanoyl-CoA to butanoyl-CoA
R-HSA-77352, Beta oxidation of butanoyl-CoA to acetyl-CoA
SABIO-RKiQ16836

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3033, 8 hits in 878 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		HADH, human
EvolutionaryTraceiQ16836

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Hydroxyacyl-Coenzyme_A_dehydrogenase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3033
PharosiQ16836, Tbio

Protein Ontology

More...PROi		PR:Q16836
RNActiQ16836, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138796, Expressed in parietal pleura and 245 other tissues
ExpressionAtlasiQ16836, baseline and differential
GenevisibleiQ16836, HS

Family and domain databases

Gene3Di1.10.1040.10, 1 hit
InterProiView protein in InterPro
IPR022694, 3-OHacyl-CoA_DH
IPR006180, 3-OHacyl-CoA_DH_CS
IPR006176, 3-OHacyl-CoA_DH_NAD-bd
IPR006108, 3HC_DH_C
IPR008927, 6-PGluconate_DH-like_C_sf
IPR013328, 6PGD_dom2
IPR036291, NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF00725, 3HCDH, 1 hit
PF02737, 3HCDH_N, 1 hit
PIRSFiPIRSF000105, HCDH, 1 hit
SUPFAMiSSF48179, SSF48179, 1 hit
SSF51735, SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00067, 3HCDH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHCDH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16836
Secondary accession number(s): J3KQ17
, O00324, O00397, O00753, Q4W5B4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: October 7, 2020
This is version 211 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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