Human Gene HACL1 (uc003caf.3)
Description: Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.
Transcript (Including UTRs)
Position: hg19 chr3:15,602,240-15,643,130 Size: 40,891 Total Exon Count: 17 Strand: -
Coding Region
Position: hg19 chr3:15,602,372-15,642,970 Size: 40,599 Coding Exon Count: 17
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: HACL1_HUMAN
DESCRIPTION: RecName: Full=2-hydroxyacyl-CoA lyase 1; EC=4.1.-.-; AltName: Full=2-hydroxyphytanoyl-CoA lyase; Short=2-HPCL; AltName: Full=Phytanoyl-CoA 2-hydroxylase 2;
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.COFACTOR: Binds 1 thiamine pyrophosphate per subunit.PATHWAY: Lipid metabolism; fatty acid metabolism.SUBUNIT: Homotetramer.INTERACTION: Self; NbExp=2; IntAct=EBI-746580, EBI-746580;SUBCELLULAR LOCATION: Peroxisome.TISSUE SPECIFICITY: Expressed in high levels in liver, also expressed in kidney, heart and skeletal muscle.SIMILARITY: Belongs to the TPP enzyme family.SEQUENCE CAUTION: Sequence=AAF28957.1; Type=Erroneous initiation;
Primer design for this transcript
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
C006253
pirinixic acid
D013749
Tetrachlorodibenzodioxin
C057693
troglitazone
C070046
1,2-dioleoyloxy-3-(trimethylammonium)propane
C049325
1,2-dithiol-3-thione
C014024
2,4,5,2',4',5'-hexachlorobiphenyl
C016403
2,4-dinitrotoluene
C023514
2,6-dinitrotoluene
C023035
3,4,5,3',4'-pentachlorobiphenyl
D000082
Acetaminophen
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Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR012000 - Thiamin_PyroP_enz_cen_dom
IPR012001 - Thiamin_PyroP_enz_TPP-bd_dom
IPR011766 - TPP_enzyme-bd_C
Pfam Domains: PF00205 - Thiamine pyrophosphate enzyme, central domain
PF02552 - CO dehydrogenase beta subunit/acetyl-CoA synthase epsilon subunit
PF02775 - Thiamine pyrophosphate enzyme, C-terminal TPP binding domain
PF02776 - Thiamine pyrophosphate enzyme, N-terminal TPP binding domain
SCOP Domains: 52467 - DHS-like NAD/FAD-binding domain
52518 - Thiamin diphosphate-binding fold (THDP-binding)
ModBase Predicted Comparative 3D Structure on Q9UJ83
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
KJ893515 - Synthetic construct Homo sapiens clone ccsbBroadEn_02909 HACL1 gene, encodes complete protein.CU674794 - Synthetic construct Homo sapiens gateway clone IMAGE:100017713 5' read HACL1 mRNA.KJ902411 - Synthetic construct Homo sapiens clone ccsbBroadEn_11805 HACL1 gene, encodes complete protein.AK299287 - Homo sapiens cDNA FLJ55041 complete cds, highly similar to 2-hydroxyphytanoyl-CoA lyase (EC 4.1.-.-).AK056977 - Homo sapiens cDNA FLJ32415 fis, clone SKMUS2000724, highly similar to 2-hydroxyphytanoyl-CoA lyase (EC 4.1.-.-).AJ131753 - Homo sapiens mRNA for 2-hydroxyphytanoyl-CoA lyase.AF161397 - Homo sapiens HSPC279 mRNA, partial cds.BC007440 - Homo sapiens 2-hydroxyacyl-CoA lyase 1, mRNA (cDNA clone IMAGE:2959666), complete cds.AK301990 - Homo sapiens cDNA FLJ54118 complete cds, highly similar to 2-hydroxyphytanoyl-CoA lyase (EC 4.1.-.-).AK301546 - Homo sapiens cDNA FLJ53672 complete cds, highly similar to 2-hydroxyphytanoyl-CoA lyase (EC 4.1.-.-).AK302086 - Homo sapiens cDNA FLJ58815 complete cds, highly similar to 2-hydroxyphytanoyl-CoA lyase (EC 4.1.-.-).BC001627 - Homo sapiens 2-hydroxyacyl-CoA lyase 1, mRNA (cDNA clone MGC:1115 IMAGE:3538159), complete cds.EU176367 - Synthetic construct Homo sapiens clone IMAGE:100006471; FLH187986.01X; RZPDo839H11251D 2-hydroxyacyl-CoA lyase 1 (HACL1) gene, encodes complete protein.DQ895558 - Synthetic construct Homo sapiens clone IMAGE:100010018; FLH187979.01L; RZPDo839F03149D 2-hydroxyacyl-CoA lyase 1 (HACL1) gene, encodes complete protein.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: HACL1_HUMAN, HPCL, HPCL2, HSPC279, NM_012260, NP_036392, PHYH2, Q9BV42, Q9P0A2, Q9UJ83UCSC ID: uc003caf.3RefSeq Accession: NM_012260
Protein: Q9UJ83
(aka HACL1_HUMAN)
CCDS: CCDS2627.1 , CCDS68360.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_012260.2
exon count:
17 CDS single in 3' UTR:
no
RNA size:
2037
ORF size:
1737 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3350.50 frame shift in genome:
no
% Coverage:
99.61
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.