HMGCLL1
3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic
Also known as: bA418P12.1, DKFZP434G1411, HMGC2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TB92
- Gene
- HMGCLL1
- Ensembl
- ENSG00000146151
- Chromosome
- 6
- Canonical length
- 370 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
OverviewNCBI Gene
Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
370 residues, UniProt reviewed canonical sequence.
>Q8TB92|HMGCLL1
1 MGNVPSAVKH CLSYQQLLRE HLWIGDSVAG ALDPAQTSLL TNLHCFQPDV SGFSVSLAGT
61 VACIHWETSQ LSGLPEFVKI VEVGPRDGLQ NEKVIVPTDI KIEFINRLSQ TGLSVIEVTS
121 FVSSRWVPQM ADHTEVMKGI HQYPGVRYPV LTPNLQGFHH AVAAGATEIS VFGAASESFS
181 KKNINCSIEE SMGKFEEVVK SARHMNIPAR GYVSCALGCP YEGSITPQKV TEVSKRLYGM
241 GCYEISLGDT IGVGTPGSMK RMLESVMKEI PPGALAVHCH DTYGQALANI LTALQMGINV
301 VDSAVSGLGG CPYAKGASGN VATEDLIYML NGLGLNTGVN LYKVMEAGDF ICKAVNKTTN
361 SKVAQASFNALocalizationUniProt · AlphaFold · HPA
Whether an antibody against HMGCLL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 9.1 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 9.1 nTPM
- cerebral cortex: 8.4 nTPM
- basal ganglia: 8.1 nTPM
- spinal cord: 7.8 nTPM
- midbrain: 6.6 nTPM
- cerebellum: 6 nTPM
Single-cell type
- pituitary stem cells: 362 nCPM
- thyrotrophs: 182 nCPM
- pancreatic islet cells: 180 nCPM
- lactotrophs: 173 nCPM
- bergmann glia: 169 nCPM
- fibro-adipogenic progenitors: 148 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 32 nTPM
- white matter: 29 nTPM
- spinal cord: 29 nTPM
- thalamus: 28 nTPM
- midbrain: 23 nTPM
- pons: 23 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.07
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.49
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HMGCLL1 as an antibody target. Whether an autoantibody or antibody against HMGCLL1 could matter depends on whether native HMGCLL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HMGCLL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HMGCLL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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