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

Gene ID: 284293, updated on 24-Nov-2020

Summary

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
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

Genomic context

See HMSD in Genome Data Viewer
Location:
18q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63949259..63969329)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61616588..61627646)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 2 Neighboring gene serpin family B member 10 Neighboring gene uncharacterized LOC105372165 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

Expression

  • 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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of immune response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001123366.2NP_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:1114
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63949259..63969329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    Conserved Domains (1) summary
    cl00137
    Location:1117
    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 ...
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