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UniProtKB - Q9UJ83 (HACL1_HUMAN)

Protein

2-hydroxyacyl-CoA lyase 1

Gene

HACL1

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

Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'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 metabolism

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei60Thiamine pyrophosphateBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi455MagnesiumBy similarity1
Metal bindingi482MagnesiumBy similarity1

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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 functionLyase
LigandMagnesium, Metal-binding, Thiamine pyrophosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05516-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-389599 Alpha-oxidation of phytanate
R-HSA-9033241 Peroxisomal protein import

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

More...UniPathwayi
UPA00199

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001015

<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_and_taxonomy_section">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:
2-hydroxyacyl-CoA lyase 1 (EC:4.1.-.-)
Alternative name(s):
2-hydroxyphytanoyl-CoA lyase
Short name:
2-HPCL
Phytanoyl-CoA 2-hydroxylase 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HACL1
Synonyms:HPCL, HPCL2, PHYH2
ORF Names:HSPC279
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000131373.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:17856 HACL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604300 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UJ83

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Peroxisome

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		26061

Open Targets

More...OpenTargetsi		ENSG00000131373

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671172

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HACL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		20455027

<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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000908161 – 5782-hydroxyacyl-CoA lyase 1Add BLAST578

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 residuei4PhosphoserineCombined sources1
Modified residuei351N6-succinyllysineBy similarity1
Modified residuei358N6-succinyllysineBy similarity1
Modified residuei365N6-succinyllysineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UJ83

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UJ83

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9UJ83

PeptideAtlas

More...PeptideAtlasi		Q9UJ83

PRoteomics IDEntifications database

More...PRIDEi		Q9UJ83

ProteomicsDB human proteome resource

More...ProteomicsDBi		84601

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UJ83

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

More...PhosphoSitePlusi		Q9UJ83

<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 high levels in liver, also expressed in kidney, heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131373 Expressed in 190 organ(s), highest expression level in duodenum

CleanEx database of gene expression profiles

More...CleanExi		HS_HACL1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UJ83 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UJ83 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA035496
HPA035497

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117523, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q9UJ83, 5 interactors

Molecular INTeraction database

More...MINTi		Q9UJ83

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000323811

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9UJ83

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

More...SMRi		Q9UJ83

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni401 – 486Thiamine pyrophosphate bindingAdd BLAST86

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi576 – 578Microbody targeting signal3

<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 TPP enzyme family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1185 Eukaryota
COG0028 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156802

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000053808

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG027302

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UJ83

KEGG Orthology (KO)

More...KOi		K12261

Identification of Orthologs from Complete Genome Data

More...OMAi		QGMVRQW

Database of Orthologous Groups

More...OrthoDBi		330201at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UJ83

TreeFam database of animal gene trees

More...TreeFami		TF105690

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029035 DHS-like_NAD/FAD-binding_dom
IPR029061 THDP-binding
IPR012000 Thiamin_PyroP_enz_cen_dom
IPR012001 Thiamin_PyroP_enz_TPP-bd_dom
IPR011766 TPP_enzyme-bd_C

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02775 TPP_enzyme_C, 1 hit
PF00205 TPP_enzyme_M, 1 hit
PF02776 TPP_enzyme_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52467 SSF52467, 1 hit
SSF52518 SSF52518, 2 hits

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UJ83-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MPDSNFAERS EEQVSGAKVI AQALKTQDVE YIFGIVGIPV TEIAIAAQQL 
        60         70         80         90        100
GIKYIGMRNE QAACYAASAI GYLTSRPGVC LVVSGPGLIH ALGGMANANM 
       110        120        130        140        150
NCWPLLVIGG SSERNQETMG AFQEFPQVEA CRLYTKFSAR PSSIEAIPFV 
       160        170        180        190        200
IEKAVRSSIY GRPGACYVDI PADFVNLQVN VNSIKYMERC MSPPISMAET 
       210        220        230        240        250
SAVCTAASVI RNAKQPLLII GKGAAYAHAE ESIKKLVEQY KLPFLPTPMG 
       260        270        280        290        300
KGVVPDNHPY CVGAARSRAL QFADVIVLFG ARLNWILHFG LPPRYQPDVK 
       310        320        330        340        350
FIQVDICAEE LGNNVKPAVT LLGNIHAVTK QLLEELDKTP WQYPPESKWW 
       360        370        380        390        400
KTLREKMKSN EAASKELASK KSLPMNYYTV FYHVQEQLPR DCFVVSEGAN 
       410        420        430        440        450
TMDIGRTVLQ NYLPRHRLDA GTFGTMGVGL GFAIAAAVVA KDRSPGQWII 
       460        470        480        490        500
CVEGDSAFGF SGMEVETICR YNLPIILLVV NNNGIYQGFD TDTWKEMLKF 
       510        520        530        540        550
QDATAVVPPM CLLPNSHYEQ VMTAFGGKGY FVQTPEELQK SLRQSLADTT 
       560        570 
KPSLINIMIE PQATRKAQDF HWLTRSNM
Length:578
Mass (Da):63,729
Last modified:May 2, 2002 - v2
<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:iCF4F4B1A97025140
GO
Isoform 2 (identifier: Q9UJ83-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-103: Missing.

Note: No experimental confirmation available.
Show »
Length:551
Mass (Da):61,064
Checksum:iE4CCA8D486BE14FB
GO
Isoform 4 (identifier: Q9UJ83-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-153: Missing.
     332-365: Missing.

Show »
Length:518
Mass (Da):56,660
Checksum:iC8ED2E77A6246C04
GO
Isoform 3 (identifier: Q9UJ83-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-185: Missing.

Note: No experimental confirmation available.
Show »
Length:496
Mass (Da):54,724
Checksum:iBACFA0F55B8007A1
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KPX4B3KPX4_HUMAN
2-hydroxyacyl-CoA lyase 1
HACL1 PHYH2, hCG_1811148
337Annotation 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>
C9J306C9J306_HUMAN
2-hydroxyacyl-CoA lyase 1
HACL1
244Annotation 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>
C9JJM7C9JJM7_HUMAN
2-hydroxyacyl-CoA lyase 1
HACL1
157Annotation 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>
Q7Z773Q7Z773_HUMAN
2-hydroxyacyl-CoA lyase 1
HACL1
119Annotation 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>
F8WCH9F8WCH9_HUMAN
2-hydroxyacyl-CoA lyase 1
HACL1
137Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF28957 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti447Q → H in CAB60200 (PubMed:10468558).Curated1
Sequence conflicti543R → E in CAB60200 (PubMed:10468558).Curated1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05419177 – 103Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_054192104 – 185Missing in isoform 3. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_054749128 – 153Missing in isoform 4. CuratedAdd BLAST26
Alternative sequenceiVSP_054750332 – 365Missing in isoform 4. CuratedAdd BLAST34

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
AJ131753 mRNA Translation: CAB60200.1
AF161397 mRNA Translation: AAF28957.1 Different initiation.
AK301546 mRNA Translation: BAG63043.1
AK301990 mRNA Translation: BAG63397.1
AC027129 Genomic DNA No translation available.
BC001627 mRNA Translation: AAH01627.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2627.1 [Q9UJ83-1]
CCDS68360.1 [Q9UJ83-2]
CCDS68361.1 [Q9UJ83-3]
CCDS68362.1 [Q9UJ83-4]

NCBI Reference Sequences

More...RefSeqi		NP_001271342.1, NM_001284413.1 [Q9UJ83-2]
NP_001271344.1, NM_001284415.1 [Q9UJ83-4]
NP_001271345.1, NM_001284416.1 [Q9UJ83-3]
NP_036392.2, NM_012260.3 [Q9UJ83-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.63290

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000321169; ENSP00000323811; ENSG00000131373 [Q9UJ83-1]
ENST00000451445; ENSP00000403656; ENSG00000131373 [Q9UJ83-3]
ENST00000456194; ENSP00000390699; ENSG00000131373 [Q9UJ83-2]
ENST00000457447; ENSP00000404883; ENSG00000131373 [Q9UJ83-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26061

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26061

UCSC genome browser

More...UCSCi		uc003caf.5 human [Q9UJ83-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ131753 mRNA Translation: CAB60200.1
AF161397 mRNA Translation: AAF28957.1 Different initiation.
AK301546 mRNA Translation: BAG63043.1
AK301990 mRNA Translation: BAG63397.1
AC027129 Genomic DNA No translation available.
BC001627 mRNA Translation: AAH01627.1
CCDSiCCDS2627.1 [Q9UJ83-1]
CCDS68360.1 [Q9UJ83-2]
CCDS68361.1 [Q9UJ83-3]
CCDS68362.1 [Q9UJ83-4]
RefSeqiNP_001271342.1, NM_001284413.1 [Q9UJ83-2]
NP_001271344.1, NM_001284415.1 [Q9UJ83-4]
NP_001271345.1, NM_001284416.1 [Q9UJ83-3]
NP_036392.2, NM_012260.3 [Q9UJ83-1]
UniGeneiHs.63290

3D structure databases

ProteinModelPortaliQ9UJ83
SMRiQ9UJ83
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117523, 13 interactors
IntActiQ9UJ83, 5 interactors
MINTiQ9UJ83
STRINGi9606.ENSP00000323811

Chemistry databases

SwissLipidsiSLP:000001015

PTM databases

iPTMnetiQ9UJ83
PhosphoSitePlusiQ9UJ83

Polymorphism and mutation databases

BioMutaiHACL1
DMDMi20455027

Proteomic databases

EPDiQ9UJ83
jPOSTiQ9UJ83
PaxDbiQ9UJ83
PeptideAtlasiQ9UJ83
PRIDEiQ9UJ83
ProteomicsDBi84601

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26061
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321169; ENSP00000323811; ENSG00000131373 [Q9UJ83-1]
ENST00000451445; ENSP00000403656; ENSG00000131373 [Q9UJ83-3]
ENST00000456194; ENSP00000390699; ENSG00000131373 [Q9UJ83-2]
ENST00000457447; ENSP00000404883; ENSG00000131373 [Q9UJ83-4]
GeneIDi26061
KEGGihsa:26061
UCSCiuc003caf.5 human [Q9UJ83-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26061
DisGeNETi26061
EuPathDBiHostDB:ENSG00000131373.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		HACL1
HGNCiHGNC:17856 HACL1
HPAiHPA035496
HPA035497
MIMi604300 gene
neXtProtiNX_Q9UJ83
OpenTargetsiENSG00000131373
PharmGKBiPA142671172

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1185 Eukaryota
COG0028 LUCA
GeneTreeiENSGT00940000156802
HOGENOMiHOG000053808
HOVERGENiHBG027302
InParanoidiQ9UJ83
KOiK12261
OMAiQGMVRQW
OrthoDBi330201at2759
PhylomeDBiQ9UJ83
TreeFamiTF105690

Enzyme and pathway databases

UniPathwayi
UPA00199

BioCyciMetaCyc:HS05516-MONOMER
ReactomeiR-HSA-389599 Alpha-oxidation of phytanate
R-HSA-9033241 Peroxisomal protein import

Miscellaneous databases

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

More...ChiTaRSi		HACL1 human

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

More...GenomeRNAii		26061

Protein Ontology

More...PROi		PR:Q9UJ83

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131373 Expressed in 190 organ(s), highest expression level in duodenum
CleanExiHS_HACL1
ExpressionAtlasiQ9UJ83 baseline and differential
GenevisibleiQ9UJ83 HS

Family and domain databases

InterProiView protein in InterPro
IPR029035 DHS-like_NAD/FAD-binding_dom
IPR029061 THDP-binding
IPR012000 Thiamin_PyroP_enz_cen_dom
IPR012001 Thiamin_PyroP_enz_TPP-bd_dom
IPR011766 TPP_enzyme-bd_C
PfamiView protein in Pfam
PF02775 TPP_enzyme_C, 1 hit
PF00205 TPP_enzyme_M, 1 hit
PF02776 TPP_enzyme_N, 1 hit
SUPFAMiSSF52467 SSF52467, 1 hit
SSF52518 SSF52518, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiHACL1_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: Q9UJ83
Secondary accession number(s): B4DWI1
, B4DXI5, E9PEN4, Q9BV42, Q9P0A2
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: January 16, 2019
This is version 159 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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