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Aliases for HMSD Gene

Aliases for HMSD Gene

  • Histocompatibility (Minor) Serpin Domain Containing 2 3
  • Minor Histocompatibility Protein HMSD 3 4
  • C18orf53 3 4
  • HSMD-V 3 4
  • Minor Histocompatibility Serpin Domain-Containing Protein 4
  • Serpin-Like Protein HMSD 3
  • ACC-6 3
  • ACC6 3

External Ids for HMSD Gene

Previous HGNC Symbols for HMSD Gene

  • C18orf53

Previous GeneCards Identifiers for HMSD Gene

  • GC18P059768
  • GC18P061616
  • GC18P058317

Summaries for HMSD Gene

Entrez Gene Summary for HMSD 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]

GeneCards Summary for HMSD Gene

HMSD (Histocompatibility (Minor) Serpin Domain Containing) is a Protein Coding gene. Diseases associated with HMSD include hematopoietic stem cell transplantation. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for HMSD Gene

  • This allelic 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 recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. However, associated with GVHD, a favorable graft-versus-leukemia (GVL) can be induced by donor-recipient disparities in mHags. ACC-6 is presented to the cell surface by MHC HLA-B*4403. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. Immunogenicity of most autosomal mHags results from single-nucleotide polymorphisms that cause amino-acid substitutions within epitopes, leading to the differential recognition of peptides between donor and recipient.

  • Putative serine protease inhibitor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMSD Gene

Genomics for HMSD Gene

Regulatory Elements for HMSD Gene

Genomic Location for HMSD Gene

Start:
63,949,301 bp from pter
End:
63,981,774 bp from pter
Size:
32,474 bases
Orientation:
Plus strand

Genomic View for HMSD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMSD Gene

Proteins for HMSD Gene

  • Protein details for HMSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MTL9-HMSD_HUMAN
    Recommended name:
    Serpin-like protein HMSD
    Protein Accession:
    A8MTL9
    Secondary Accessions:

    Protein attributes for HMSD Gene

    Size:
    139 amino acids
    Molecular mass:
    15355 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HMSD Gene

    UniProtKB/Swiss-Prot:
  • Protein details for HMSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7T4-HMSDV_HUMAN
    Recommended name:
    Minor histocompatibility protein HMSD variant form
    Protein Accession:
    P0C7T4
    Secondary Accessions:

    Protein attributes for HMSD Gene

    Size:
    53 amino acids
    Molecular mass:
    6023 Da
    Quaternary structure:
    • ACC-6 forms a complex with MHC HLA-B*4403.

    Alternative splice isoforms for HMSD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMSD Gene

Proteomics data for HMSD Gene at MOPED

Post-translational modifications for HMSD Gene

  • Glycosylation at Asn50
  • Modification sites at PhosphoSitePlus

Other Protein References for HMSD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMSD Gene

Domains for HMSD Gene

Protein Domains for HMSD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMSD Gene

Graphical View of Domain Structure for InterPro Entry

A8MTL9

UniProtKB/Swiss-Prot:

HMSDV_HUMAN :
  • A8MTL9
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with HMSD: view

No data available for Gene Families for HMSD Gene

Function for HMSD Gene

Molecular function for HMSD Gene

UniProtKB/Swiss-Prot Function: This allelic 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 recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. However, associated with GVHD, a favorable graft-versus-leukemia (GVL) can be induced by donor-recipient disparities in mHags. ACC-6 is presented to the cell surface by MHC HLA-B*4403. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. Immunogenicity of most autosomal mHags results from single-nucleotide polymorphisms that cause amino-acid substitutions within epitopes, leading to the differential recognition of peptides between donor and recipient.
UniProtKB/Swiss-Prot Function: Putative serine protease inhibitor.

Gene Ontology (GO) - Molecular Function for HMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
genes like me logo Genes that share ontologies with HMSD: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HMSD Gene

Localization for HMSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMSD Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMSD Gene COMPARTMENTS Subcellular localization image for HMSD gene
Compartment Confidence
extracellular 3
cytosol 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with HMSD: view

Pathways for HMSD Gene

SuperPathways for HMSD Gene

No Data Available

Interacting Proteins for HMSD Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386207%0d%0a9606.ENSP00000053867%0d%0a9606.ENSP00000220166%0d%0a
Selected Interacting proteins: ENSP00000386207 for HMSD Gene via STRING

Gene Ontology (GO) - Biological Process for HMSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IBA --
genes like me logo Genes that share ontologies with HMSD: view

No data available for Pathways by source for HMSD Gene

Transcripts for HMSD Gene

mRNA/cDNA for HMSD Gene

Unigene Clusters for HMSD Gene

Histocompatibility (minor) serpin domain containing:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMSD

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for HMSD
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMSD Gene

No ASD Table

Relevant External Links for HMSD Gene

GeneLoc Exon Structure for
HMSD
ECgene alternative splicing isoforms for
HMSD

Expression for HMSD Gene

mRNA expression in normal human tissues for HMSD Gene

mRNA differential expression in normal tissues according to GTEx for HMSD Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (13.1) and Brain - Substantia nigra (5.1).

SOURCE GeneReport for Unigene cluster for HMSD Gene Hs.721604

mRNA Expression by UniProt/SwissProt for HMSD Gene

A8MTL9-HMSD_HUMAN
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.
genes like me logo Genes that share expressions with HMSD: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for HMSD Gene

Orthologs for HMSD Gene

This gene was present in the common ancestor of mammals.

Orthologs for HMSD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMSD 35
  • 98.8 (n)
  • 99.28 (a)
HMSD 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMSD 36
  • 17 (a)
OneToOne
Species with no ortholog for HMSD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HMSD Gene

ENSEMBL:
Gene Tree for HMSD (if available)
TreeFam:
Gene Tree for HMSD (if available)

Paralogs for HMSD Gene

genes like me logo Genes that share paralogs with HMSD: view

No data available for Paralogs for HMSD Gene

Variants for HMSD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HMSD Gene

A8MTL9-HMSD_HUMAN
Minor histocompatibility antigen ACC-6 (mHA ACC-6) is encoded by HMSD-v which is an allelic variant of HMSD. HMSD-v results from an intronic single-nucleotide polymorphism located at position 5 of HMSD intron 2 leading to a G to A substitution. This variation in intron 2 induces skipping of exon 2 and frameshift, resulting in expression of ACC-6
P0C7T4-HMSDV_HUMAN
Minor histocompatibility antigen ACC-6 (mHA ACC-6) is encoded by HMSD-v which is an allelic variant of HMSD. HMSD-v results from an intronic single-nucleotide polymorphism located at position 5 of HMSD intron 2 leading to a G to A substitution. This variation in intron 2 induces skipping of exon 2 and frameshift, resulting in expression of ACC-6

Sequence variations from dbSNP and Humsavar for HMSD Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs596253 -- 63,957,249(-) TCCAT(C/T)TCAGA intron-variant
rs596649 -- 63,957,284(+) AAGGG(G/T)TAATA intron-variant
rs614908 -- 63,957,308(+) GCAAC(A/C)AAAAA intron-variant
rs616474 -- 63,947,756(-) gtaga(A/T)atagg upstream-variant-2KB
rs650355 -- 63,951,377(-) AGAGA(A/C)CAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMSD Gene

Variant ID Type Subtype PubMed ID
esv21739 CNV Gain 19812545
nsv909693 CNV Gain 21882294
nsv833673 CNV Gain 17160897

Relevant External Links for HMSD Gene

HapMap Linkage Disequilibrium report
HMSD
Human Gene Mutation Database (HGMD)
HMSD

Disorders for HMSD Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for HMSD Gene including...

Search for HMSD Gene in MalaCards »
genes like me logo Genes that share disorders with HMSD: view

No data available for UniProtKB/Swiss-Prot for HMSD Gene

Publications for HMSD Gene

  1. Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. (PMID: 17409267) Kawase T. … Takahashi T. (Blood 2007) 2 3 4
  2. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3 4
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C. … Lander E.S. (Nature 2005) 3 4

Products for HMSD Gene

Sources for HMSD Gene

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