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

Gene ID: 284293, updated on 5-Mar-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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Location:
18q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63949301..63969648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (64154357..64174683)
105.20220307 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)

Genotypes

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 
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_2023_10

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

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