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    HMSD histocompatibility minor serpin domain containing [ Homo sapiens (human) ]

    Gene ID: 284293, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HMSDprovided by HGNC
    Official Full Name
    histocompatibility minor serpin domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:23037
    See related
    Ensembl:ENSG00000221887 MIM:612086; AllianceGenome:HGNC:23037
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACC6; ACC-6; HSMD-v; C18orf53
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See HMSD in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63949301..63969648)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (64154357..64174683)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61616535..61629069)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904356 Neighboring gene serpin family B member 2 Neighboring gene serpin family B member 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:61607430-61607930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13470 Neighboring gene uncharacterized LOC105372165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9532 Neighboring gene Sharpr-MPRA regulatory region 9998 Neighboring gene serpin family B member 8 Neighboring gene ribosomal protein L12 pseudogene 39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. Kawase T, et al. Blood, 2007 Aug 1. PMID 17409267
    2. DNA sequence and analysis of human chromosome 18. Nusbaum C, et al. Nature, 2005 Sep 22. PMID 16177791
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of type II interferon production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serpin-like protein HMSD
    Names
    minor histocompatibility protein HMSD

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027807.1 RefSeqGene

      Range
      4948..17482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123366.2 → NP_001116838.1  serpin-like protein HMSD

      See identical proteins and their annotated locations for NP_001116838.1

      Status: REVIEWED

      Source sequence(s)
      AC009802, AW205887, BM696260
      Consensus CDS
      CCDS42441.1
      UniProtKB/Swiss-Prot
      A8MTL9
      Related
      ENSP00000386207.3, ENST00000408945.5
      Conserved Domains (1) summary
      cl00137
      Location:1 → 114
      SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      63949301..63969648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025710.2 → XP_016881199.1  serpin-like protein HMSD isoform X1

    2. XM_011525930.3 → XP_011524232.1  serpin-like protein HMSD isoform X2

      Conserved Domains (1) summary
      cl00137
      Location:1 → 117
      SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      64154357..64174683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318538.1 → XP_054174513.1  serpin-like protein HMSD isoform X1

    2. XM_054318539.1 → XP_054174514.1  serpin-like protein HMSD isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MTL9.1 GenPept UniProtKB/Swiss-Prot:A8MTL9
    P0C7T4.1 GenPept UniProtKB/Swiss-Prot:P0C7T4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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