UniProtKB - Q9UJ83 (HACL1_HUMAN)
2-hydroxyacyl-CoA lyase 1
HACL1
Functioni
Peroxisomal 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner (PubMed:28289220, PubMed:21708296, PubMed:10468558).
Involved in the degradation of 3-methyl-branched fatty acids like phytanic acid and the shortening of 2-hydroxy long-chain fatty acids (PubMed:28289220, PubMed:21708296, PubMed:10468558).
Plays a significant role in the biosynthesis of heptadecanal in the liver (By similarity).
By similarity3 PublicationsCatalytic activityi
- EC:4.1.2.632 PublicationsThis reaction proceeds in the forward1 Publication direction.
- EC:4.1.2.631 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Cofactori
Protein has several cofactor binding sites:- Mg2+By similarityNote: Binds 1 Mg2+ ion per subunit.By similarity
- thiamine diphosphateBy similarityNote: Binds 1 thiamine pyrophosphate per subunit.By similarity
: fatty acid metabolism Pathwayi
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 60 | Thiamine pyrophosphateBy similarity | 1 | |
Metal bindingi | 455 | MagnesiumBy similarity | 1 | |
Metal bindingi | 482 | MagnesiumBy similarity | 1 |
GO - Molecular functioni
- 2-hydroxy-3-methylhexadecanoyl-CoA lyase activity Source: UniProtKB
- 2-hydroxyphytanoyl-CoA lyase activity Source: RHEA
- ATP binding Source: UniProtKB
- carbon-carbon lyase activity Source: UniProtKB
- identical protein binding Source: UniProtKB
- magnesium ion binding Source: UniProtKB
- thiamine pyrophosphate binding Source: HGNC-UCL
GO - Biological processi
- fatty acid alpha-oxidation Source: UniProtKB
- fatty acid metabolic process Source: UniProtKB
- methyl-branched fatty acid metabolic process Source: UniProtKB
- phytanic acid metabolic process Source: UniProtKB
- protein targeting to peroxisome Source: UniProtKB
Keywordsi
Molecular function | Lyase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Ligand | Magnesium, Metal-binding, Thiamine pyrophosphate |
Enzyme and pathway databases
PathwayCommonsi | Q9UJ83 |
Reactomei | R-HSA-389599, Alpha-oxidation of phytanate R-HSA-9033241, Peroxisomal protein import |
SignaLinki | Q9UJ83 |
UniPathwayi | UPA00199 |
Chemistry databases
SwissLipidsi | SLP:000001015 |
Names & Taxonomyi
Protein namesi | Recommended name: 2-hydroxyacyl-CoA lyase 1 (EC:4.1.2.633 Publications)Alternative name(s): 2-hydroxyphytanoyl-CoA lyase1 Publication Short name: 2-HPCL1 Publication Phytanoyl-CoA 2-hydroxylase 2 |
Gene namesi | ORF Names:HSPC279 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17856, HACL1 |
MIMi | 604300, gene |
neXtProti | NX_Q9UJ83 |
VEuPathDBi | HostDB:ENSG00000131373 |
Subcellular locationi
Peroxisome
- Peroxisome 3 Publications
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleoplasm Source: HPA
Peroxisome
- peroxisomal matrix Source: Reactome
- peroxisome Source: UniProtKB
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
PeroxisomePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 455 | D → S or R: Does not affect subcellular localization. Abolishes lyase activity. Does not affect subcellular localization, abolishes lyase activity, does not affect oligomerisation and does not bind TTP; when associated with S-456. 1 Publication | 1 | |
Mutagenesisi | 456 | S → R: Does not affect subcellular localization. Abolishes lyase activity. Does not affect subcellular localization, abolishes lyase activity, does not affect oligomerisation and does not bind TTP; when associated with S-455. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 26061 |
OpenTargetsi | ENSG00000131373 |
PharmGKBi | PA142671172 |
Miscellaneous databases
Pharosi | Q9UJ83, Tbio |
Genetic variation databases
BioMutai | HACL1 |
DMDMi | 20455027 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000090816 | 1 – 578 | 2-hydroxyacyl-CoA lyase 1Add BLAST | 578 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 4 | PhosphoserineCombined sources | 1 | |
Modified residuei | 351 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 358 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 365 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UJ83 |
jPOSTi | Q9UJ83 |
MassIVEi | Q9UJ83 |
MaxQBi | Q9UJ83 |
PaxDbi | Q9UJ83 |
PeptideAtlasi | Q9UJ83 |
PRIDEi | Q9UJ83 |
ProteomicsDBi | 19929 5341 5439 84601 [Q9UJ83-1] |
PTM databases
iPTMneti | Q9UJ83 |
MetOSitei | Q9UJ83 |
PhosphoSitePlusi | Q9UJ83 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000131373, Expressed in duodenum and 204 other tissues |
ExpressionAtlasi | Q9UJ83, baseline and differential |
Genevisiblei | Q9UJ83, HS |
Organism-specific databases
HPAi | ENSG00000131373, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer.
1 PublicationBinary interactionsi
Q9UJ83
With | #Exp. | IntAct |
---|---|---|
itself | 3 | EBI-746580,EBI-746580 |
MAGEB6 [Q8N7X4] | 3 | EBI-746580,EBI-6447163 |
ZMYND19 [Q96E35] | 7 | EBI-746580,EBI-746595 |
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 117523, 19 interactors |
IntActi | Q9UJ83, 9 interactors |
MINTi | Q9UJ83 |
STRINGi | 9606.ENSP00000323811 |
Miscellaneous databases
RNActi | Q9UJ83, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 401 – 486 | Thiamine pyrophosphate bindingBy similarityAdd BLAST | 86 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 576 – 578 | Microbody targeting signal1 Publication | 3 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1185, Eukaryota |
GeneTreei | ENSGT00940000156802 |
HOGENOMi | CLU_013748_3_3_1 |
InParanoidi | Q9UJ83 |
OMAi | CFGTSGP |
OrthoDBi | 330201at2759 |
PhylomeDBi | Q9UJ83 |
TreeFami | TF105690 |
Family and domain databases
InterProi | View protein in InterPro IPR029035, DHS-like_NAD/FAD-binding_dom IPR045025, HACL1-like IPR029061, THDP-binding IPR012000, Thiamin_PyroP_enz_cen_dom IPR012001, Thiamin_PyroP_enz_TPP-bd_dom IPR011766, TPP_enzyme-bd_C |
PANTHERi | PTHR43710, PTHR43710, 1 hit |
Pfami | View protein in Pfam PF02775, TPP_enzyme_C, 1 hit PF00205, TPP_enzyme_M, 1 hit PF02776, TPP_enzyme_N, 1 hit |
SUPFAMi | SSF52467, SSF52467, 1 hit SSF52518, SSF52518, 2 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB3KPX4 | B3KPX4_HUMAN | 2-hydroxyacyl-CoA lyase 1 | HACL1 PHYH2, hCG_1811148 | 337 | Annotation score: | ||
C9J306 | C9J306_HUMAN | 2-hydroxyacyl-CoA lyase 1 | HACL1 | 244 | Annotation score: | ||
C9JJM7 | C9JJM7_HUMAN | 2-hydroxyacyl-CoA lyase 1 | HACL1 | 157 | Annotation score: | ||
F8WCH9 | F8WCH9_HUMAN | 2-hydroxyacyl-CoA lyase 1 | HACL1 | 137 | Annotation score: | ||
Q7Z773 | Q7Z773_HUMAN | 2-hydroxyacyl-CoA lyase 1 | HACL1 | 119 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 447 | Q → H in CAB60200 (PubMed:10468558).Curated | 1 | |
Sequence conflicti | 543 | R → E in CAB60200 (PubMed:10468558).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054191 | 77 – 103 | Missing in isoform 2. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_054192 | 104 – 185 | Missing in isoform 3. 1 PublicationAdd BLAST | 82 | |
Alternative sequenceiVSP_054749 | 128 – 153 | Missing in isoform 4. CuratedAdd BLAST | 26 | |
Alternative sequenceiVSP_054750 | 332 – 365 | Missing in isoform 4. CuratedAdd BLAST | 34 |
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 |
CCDSi | CCDS2627.1 [Q9UJ83-1] CCDS68360.1 [Q9UJ83-2] CCDS68361.1 [Q9UJ83-3] CCDS68362.1 [Q9UJ83-4] |
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] |
Genome annotation databases
Ensembli | ENST00000321169; ENSP00000323811; ENSG00000131373 ENST00000451445; ENSP00000403656; ENSG00000131373 [Q9UJ83-3] ENST00000456194; ENSP00000390699; ENSG00000131373 [Q9UJ83-2] ENST00000457447; ENSP00000404883; ENSG00000131373 [Q9UJ83-4] |
GeneIDi | 26061 |
KEGGi | hsa:26061 |
MANE-Selecti | ENST00000321169.10; ENSP00000323811.5; NM_012260.4; NP_036392.2 |
UCSCi | uc003caf.5, human [Q9UJ83-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS2627.1 [Q9UJ83-1] CCDS68360.1 [Q9UJ83-2] CCDS68361.1 [Q9UJ83-3] CCDS68362.1 [Q9UJ83-4] |
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] |
3D structure databases
SMRi | Q9UJ83 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117523, 19 interactors |
IntActi | Q9UJ83, 9 interactors |
MINTi | Q9UJ83 |
STRINGi | 9606.ENSP00000323811 |
Chemistry databases
SwissLipidsi | SLP:000001015 |
PTM databases
iPTMneti | Q9UJ83 |
MetOSitei | Q9UJ83 |
PhosphoSitePlusi | Q9UJ83 |
Genetic variation databases
BioMutai | HACL1 |
DMDMi | 20455027 |
Proteomic databases
EPDi | Q9UJ83 |
jPOSTi | Q9UJ83 |
MassIVEi | Q9UJ83 |
MaxQBi | Q9UJ83 |
PaxDbi | Q9UJ83 |
PeptideAtlasi | Q9UJ83 |
PRIDEi | Q9UJ83 |
ProteomicsDBi | 19929 5341 5439 84601 [Q9UJ83-1] |
Protocols and materials databases
Antibodypediai | 26826, 195 antibodies from 27 providers |
DNASUi | 26061 |
Genome annotation databases
Ensembli | ENST00000321169; ENSP00000323811; ENSG00000131373 ENST00000451445; ENSP00000403656; ENSG00000131373 [Q9UJ83-3] ENST00000456194; ENSP00000390699; ENSG00000131373 [Q9UJ83-2] ENST00000457447; ENSP00000404883; ENSG00000131373 [Q9UJ83-4] |
GeneIDi | 26061 |
KEGGi | hsa:26061 |
MANE-Selecti | ENST00000321169.10; ENSP00000323811.5; NM_012260.4; NP_036392.2 |
UCSCi | uc003caf.5, human [Q9UJ83-1] |
Organism-specific databases
CTDi | 26061 |
DisGeNETi | 26061 |
GeneCardsi | HACL1 |
HGNCi | HGNC:17856, HACL1 |
HPAi | ENSG00000131373, Low tissue specificity |
MIMi | 604300, gene |
neXtProti | NX_Q9UJ83 |
OpenTargetsi | ENSG00000131373 |
PharmGKBi | PA142671172 |
VEuPathDBi | HostDB:ENSG00000131373 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1185, Eukaryota |
GeneTreei | ENSGT00940000156802 |
HOGENOMi | CLU_013748_3_3_1 |
InParanoidi | Q9UJ83 |
OMAi | CFGTSGP |
OrthoDBi | 330201at2759 |
PhylomeDBi | Q9UJ83 |
TreeFami | TF105690 |
Enzyme and pathway databases
UniPathwayi | UPA00199 |
PathwayCommonsi | Q9UJ83 |
Reactomei | R-HSA-389599, Alpha-oxidation of phytanate R-HSA-9033241, Peroxisomal protein import |
SignaLinki | Q9UJ83 |
Miscellaneous databases
BioGRID-ORCSi | 26061, 8 hits in 1041 CRISPR screens |
ChiTaRSi | HACL1, human |
GenomeRNAii | 26061 |
Pharosi | Q9UJ83, Tbio |
PROi | PR:Q9UJ83 |
RNActi | Q9UJ83, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131373, Expressed in duodenum and 204 other tissues |
ExpressionAtlasi | Q9UJ83, baseline and differential |
Genevisiblei | Q9UJ83, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029035, DHS-like_NAD/FAD-binding_dom IPR045025, HACL1-like IPR029061, THDP-binding IPR012000, Thiamin_PyroP_enz_cen_dom IPR012001, Thiamin_PyroP_enz_TPP-bd_dom IPR011766, TPP_enzyme-bd_C |
PANTHERi | PTHR43710, PTHR43710, 1 hit |
Pfami | View protein in Pfam PF02775, TPP_enzyme_C, 1 hit PF00205, TPP_enzyme_M, 1 hit PF02776, TPP_enzyme_N, 1 hit |
SUPFAMi | SSF52467, SSF52467, 1 hit SSF52518, SSF52518, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | HACL1_HUMAN | |
Accessioni | Q9UJ83Primary (citable) accession number: Q9UJ83 Secondary accession number(s): B4DWI1 Q9P0A2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | May 2, 2002 | |
Last modified: | February 23, 2022 | |
This is version 176 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families