Gene Gene information from NCBI Gene database.
Entrez ID 51495
Gene name 3-hydroxyacyl-CoA dehydratase 3
Gene symbol HACD3
Synonyms (NCBI Gene)
B-IND1BIND1HSPC121PTPLAD1
Chromosome 15
Chromosome location 15q22.31
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT534931 hsa-miR-330-3p PAR-CLIP 22012620
MIRT534930 hsa-miR-3920 PAR-CLIP 22012620
MIRT534929 hsa-miR-29a-5p PAR-CLIP 22012620
MIRT534928 hsa-miR-433-3p PAR-CLIP 22012620
MIRT534927 hsa-miR-3192-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity TAS 10747961
GO:0005515 Function Protein binding IPI 18160438, 23935497, 26618866, 29924966, 31324722, 35271311, 36012204
GO:0005783 Component Endoplasmic reticulum IDA 18554506
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615940 24175 ENSG00000074696
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P035
Protein name Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 3) (HACD3) (Butyrate-induced protein 1) (B-ind1) (hB-ind1) (Protein-tyrosine phosphatase-like A domain-containing protein 1)
Protein function Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cyc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04387 PTPLA 195 356 Protein tyrosine phosphatase-like protein, PTPLA Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, kidney, brain, liver and weakly in skeletal muscle, spleen and heart. No expression detected in leukocytes. {ECO:0000269|PubMed:10747961, ECO:0000269|PubMed:18554506}.
Sequence
MENQVLTPHVYWAQRHRELYLRVELSDVQNPAISITENVLHFKAQGHGAKGDNVYEFHLE
FLDLVKPEPVYKLTQRQVNITVQKKVSQWWERLTKQEKRPLFLAPDFDRWLDESDAEMEL
RAKEEERLNKLRLESEGSPETLTNLRKGYLFMYNLVQFLGFSWIFVNLTVRFCILGKESF
YDTFHTVADMMYFCQMLAVVETINAAIGVTTSPVLPSLIQLLGRNFILFIIFGTMEEMQN
KAVVFFVFYLWSAIEIFRYSFYMLTCIDMDWKVLTWLRYTLWIPLYPLGCLAEAVSVIQS
IPIFNETGRFSFTLPYPVKIKVRFSFFLQIYLIMIFLGLYINFRHLYKQRRRRYGQ
KKKK
IH
Sequence length 362
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 33378017 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 31610545
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30300385
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 31610545, 31819986
★☆☆☆☆
Found in Text Mining only
Mental Depression Mental Depression BEFREE 31610545
★☆☆☆☆
Found in Text Mining only