HMSD (histocompatibility minor serpin domain containing)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284293
Gene name Gene Name - the full gene name approved by the HGNC.
Histocompatibility minor serpin domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HMSD
Synonyms (NCBI Gene) Gene synonyms aliases
ACC-6, ACC6, C18orf53, HSMD-v
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q22.1
Summary Summary of gene provided in NCBI Entrez 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 m
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0002253 Process Activation of immune response IDA 17409267
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005615 Component Extracellular space IEA
GO:0010951 Process Negative regulation of endopeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612086 23037 ENSG00000221887
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID A8MTL9
Protein name Serpin-like protein HMSD (Minor histocompatibility protein HMSD) (Minor histocompatibility serpin domain-containing protein)
Protein function Putative serine protease inhibitor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 1 → 120 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloid lineage. {ECO:0000269|PubMed:17409267}.
Sequence
Sequence length 139
UniProt ID P0C7T4
Protein name Minor histocompatibility protein HMSD variant form (HSMD-v) [Cleaved into: Minor histocompatibility antigen ACC-6 (mHA ACC-6)]
Protein function This splice variant of HMSD is the precursor of the histocompatibility antigen ACC-6. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after re
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloid lineage. ACC-6 expression is limited to cells of the hematopoietic lineage. {ECO:0000269|PubMed:17409267}.
Sequence 
MEIFIEVFSHFLLQLTELTLNMCLELPTGSLEKSLMISSQVLQIPVANSTKQR
Sequence length 53
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Peeling skin syndrome PEELING SKIN SYNDROME 5 rs398122804, rs387906689, rs387906841, rs672601343, rs606231275, rs606231277, rs747711488, rs149474339, rs374612640, rs1050823116, rs1553219199, rs1246486951, rs755087362
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Dermatitis Dermatitis GWAS