HMSD
Serpin-like protein HMSD
Also known as: ACC-6, ACC6, C18orf53, HMSD_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A8MTL9
- Gene
- HMSD
- Ensembl
- ENSG00000221887
- Chromosome
- 18
- Canonical length
- 139 aa
- Protein class
- Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]
Canonical amino-acid sequenceUniProt
139 residues, UniProt reviewed canonical sequence.
>A8MTL9|HMSD
1 MSISSALAMV FMGAKGNTAA QMSQALCFSK IGGEDGDIHR GFQSLLVAIN RTDTEYVLRT
61 ANGLFGEKSY DFLTGFTDSC GKFYQATIKQ LDFVNDTEKS TTRVNSWVAD KTKGENILLF
121 YFDNILNSFI VSSLQNCQILocalizationUniProt · AlphaFold · HPA
Whether an antibody against HMSD 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 31 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 31 nTPM
- midbrain: 9.7 nTPM
- hippocampal formation: 5 nTPM
- hypothalamus: 4.9 nTPM
- amygdala: 2.8 nTPM
- basal ganglia: 2.5 nTPM
Single-cell type
- epicardial cells: 39 nCPM
- alveolar cells type 1: 15 nCPM
- pdcs: 12 nCPM
- oligodendrocytes: 9.4 nCPM
- esophageal basal cells: 8.9 nCPM
- undifferentiated spermatogonia: 8.3 nCPM
Immune cell
- plasmacytoid DC: 1.8 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- white matter: 11 nTPM
- medulla oblongata: 9.7 nTPM
- pons: 8.1 nTPM
- cerebellum: 5.5 nTPM
- spinal cord: 5.1 nTPM
- thalamus: 4.7 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)
- 1.67
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- 0.18
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 HMSD as an antibody target. Whether an autoantibody or antibody against HMSD could matter depends on whether native HMSD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HMSD is annotated as secreted, so native HMSD circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label HMSD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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