Q9UJ83 (HACL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Gene names

Name:	HACL1
Synonyms:	HPCL, HPCL2, PHYH2
ORF Names:	HSPC279

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	578 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde.
Catalytic activity	2-hydroxyphytanoyl-CoA = pristanal + formyl-CoA.
Cofactor	Binds 1 magnesium ion per subunit. Binds 1 thiamine pyrophosphate per subunit.
Pathway	Lipid metabolism; fatty acid metabolism.
Subunit structure	Homotetramer.
Subcellular location	Peroxisome.
Tissue specificity	Expressed in high levels in liver, also expressed in kidney, heart and skeletal muscle. Ref.1
Sequence similarities	Belongs to the TPP enzyme family.
Sequence caution	The sequence AAF28957.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Peroxisome
Ligand	Magnesium Metal-binding Thiamine pyrophosphate
Molecular function	Lyase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fatty acid alpha-oxidation Inferred from direct assay Ref.1. Source: HGNC protein oligomerization Inferred from direct assay PubMed 21708296. Source: UniProtKB
Cellular_component	peroxisomal matrix Traceable author statement. Source: Reactome
Molecular_function	carbon-carbon lyase activity Inferred from direct assay PubMed 15644336PubMed 21708296. Source: UniProtKB magnesium ion binding Inferred from electronic annotation. Source: InterPro thiamine pyrophosphate binding Inferred from direct assay PubMed 21708296. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		2	EBI-746580,EBI-746580

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 578	578	2-hydroxyacyl-CoA lyase 1		PRO_0000090816
Regions
	Region	401 – 486	86	Thiamine pyrophosphate binding
	Motif	576 – 578	3	Microbody targeting signal
Sites
	Metal binding	455	1	Magnesium By similarity
	Metal binding	482	1	Magnesium By similarity
	Binding site	60	1	Thiamine pyrophosphate By similarity
Amino acid modifications
	Modified residue	4	1	Phosphoserine By similarity
Experimental info
	Sequence conflict	447	1	Q → H in CAB60200. Ref.1
	Sequence conflict	543	1	R → E in CAB60200. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UJ83 [UniParc]. Last modified May 2, 2002. Version 2. Checksum: CF4F4B1A97025140	FASTA	578	63,729
	10 20 30 40 50 60 MPDSNFAERS EEQVSGAKVI AQALKTQDVE YIFGIVGIPV TEIAIAAQQL GIKYIGMRNE 70 80 90 100 110 120 QAACYAASAI GYLTSRPGVC LVVSGPGLIH ALGGMANANM NCWPLLVIGG SSERNQETMG 130 140 150 160 170 180 AFQEFPQVEA CRLYTKFSAR PSSIEAIPFV IEKAVRSSIY GRPGACYVDI PADFVNLQVN 190 200 210 220 230 240 VNSIKYMERC MSPPISMAET SAVCTAASVI RNAKQPLLII GKGAAYAHAE ESIKKLVEQY 250 260 270 280 290 300 KLPFLPTPMG KGVVPDNHPY CVGAARSRAL QFADVIVLFG ARLNWILHFG LPPRYQPDVK 310 320 330 340 350 360 FIQVDICAEE LGNNVKPAVT LLGNIHAVTK QLLEELDKTP WQYPPESKWW KTLREKMKSN 370 380 390 400 410 420 EAASKELASK KSLPMNYYTV FYHVQEQLPR DCFVVSEGAN TMDIGRTVLQ NYLPRHRLDA 430 440 450 460 470 480 GTFGTMGVGL GFAIAAAVVA KDRSPGQWII CVEGDSAFGF SGMEVETICR YNLPIILLVV 490 500 510 520 530 540 NNNGIYQGFD TDTWKEMLKF QDATAVVPPM CLLPNSHYEQ VMTAFGGKGY FVQTPEELQK 550 560 570 SLRQSLADTT KPSLINIMIE PQATRKAQDF HWLTRSNM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine hydrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids." Foulon V., Antonenkov V.D., Croes K., Waelkens E., Mannaerts G.P., Van Veldhoven P.P., Casteels M. Proc. Natl. Acad. Sci. U.S.A. 96:10039-10044(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[4]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ131753 mRNA. Translation: CAB60200.1. AF161397 mRNA. Translation: AAF28957.1. Different initiation. BC001627 mRNA. Translation: AAH01627.1.
IPI	IPI00296535.
RefSeq	NP_036392.2. NM_012260.2.
UniGene	Hs.63290.
3D structure databases
ProteinModelPortal	Q9UJ83.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UJ83. 2 interactions.
MINT	MINT-1444467.
STRING	9606.ENSP00000323811.
PTM databases
PhosphoSite	Q9UJ83.
Polymorphism databases
DMDM	20455027.
Proteomic databases
PaxDb	Q9UJ83.
PeptideAtlas	Q9UJ83.
PRIDE	Q9UJ83.
Protocols and materials databases
DNASU	26061.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321169; ENSP00000323811; ENSG00000131373.
GeneID	26061.
KEGG	hsa:26061.
UCSC	uc003caf.3. human.
Organism-specific databases
CTD	26061.
GeneCards	GC03M015602.
HGNC	HGNC:17856. HACL1.
HPA	HPA035496.
MIM	604300. gene.
neXtProt	NX_Q9UJ83.
PharmGKB	PA142671172.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0028.
HOGENOM	HOG000053808.
HOVERGEN	HBG027302.
InParanoid	Q9UJ83.
KO	K12261.
OMA	WWKTLRE.
OrthoDB	EOG4P8FHS.
PhylomeDB	Q9UJ83.
Enzyme and pathway databases
BioCyc	MetaCyc:HS05516-MONOMER.
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00199.
Gene expression databases
ArrayExpress	Q9UJ83.
Bgee	Q9UJ83.
CleanEx	HS_HACL1.
Genevestigator	Q9UJ83.
GermOnline	ENSG00000131373. Homo sapiens.
Family and domain databases
InterPro	IPR012000. Thiamin_PyroP_enz_cen_dom. IPR012001. Thiamin_PyroP_enz_TPP-bd_dom. IPR011766. TPP_enzyme-bd_C. [Graphical view]
Pfam	PF02775. TPP_enzyme_C. 1 hit. PF00205. TPP_enzyme_M. 1 hit. PF02776. TPP_enzyme_N. 1 hit. [Graphical view]
PROSITE	PS00187. TPP_ENZYMES. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HACL1. human.
GenomeRNAi	26061.
NextBio	47958.
SOURCE	Search...

Entry information

Entry name

HACL1_HUMAN

Accession

Primary (citable) accession number: Q9UJ83
Secondary accession number(s): Q9BV42, Q9P0A2

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	May 2, 2002
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.