HMSD_HUMAN
ID HMSD_HUMAN Reviewed; 139 AA.
AC A8MTL9;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Serpin-like protein HMSD;
DE AltName: Full=Minor histocompatibility protein HMSD;
DE AltName: Full=Minor histocompatibility serpin domain-containing protein;
DE Flags: Precursor;
GN Name=HMSD;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND POLYMORPHISM.
RX PubMed=17409267; DOI=10.1182/blood-2007-02-075911;
RA Kawase T., Akatsuka Y., Torikai H., Morishima S., Oka A., Tsujimura A.,
RA Miyazaki M., Tsujimura K., Miyamura K., Ogawa S., Inoko H., Morishima Y.,
RA Kodera Y., Kuzushima K., Takahashi T.;
RT "Alternative splicing due to an intronic SNP in HMSD generates a novel
RT minor histocompatibility antigen.";
RL Blood 110:1055-1063(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=8889548; DOI=10.1101/gr.6.9.791;
RA Bonaldo M.F., Lennon G., Soares M.B.;
RT "Normalization and subtraction: two approaches to facilitate gene
RT discovery.";
RL Genome Res. 6:791-806(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute;
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Putative serine protease inhibitor. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=HMSD;
CC IsoId=A8MTL9-1; Sequence=Displayed;
CC Name=2; Synonyms=HMSD-v;
CC IsoId=P0C7T4-1; Sequence=External;
CC -!- TISSUE SPECIFICITY: Highly expressed in dendritic cells and primary
CC leukemia cells, especially those of myeloid lineage.
CC {ECO:0000269|PubMed:17409267}.
CC -!- POLYMORPHISM: Minor histocompatibility antigen ACC-6 (mHA ACC-6) is
CC encoded by HMSD-v which is an allelic variant of HMSD. HMSD-v results
CC from an intronic single-nucleotide polymorphism located at position 5
CC of HMSD intron 2 leading to a G to A substitution. This variation in
CC intron 2 induces skipping of exon 2 and frameshift, resulting in
CC expression of ACC-6.
CC -!- SIMILARITY: Belongs to the serpin family. {ECO:0000305}.
CC -!- CAUTION: Translation of HMSD-v form generating mHA ACC-6 is in a frame
CC different from that resulting in HMSD non variant form expression.
CC Thus, HMSD sequence described in this entry does not contain the mHA
CC ACC-6 peptide. {ECO:0000305}.
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DR EMBL; BM696260; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AW205887; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC009802; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471096; EAW63164.1; -; Genomic_DNA.
DR CCDS; CCDS42441.1; -. [A8MTL9-1]
DR RefSeq; NP_001116838.1; NM_001123366.1. [A8MTL9-1]
DR AlphaFoldDB; A8MTL9; -.
DR SMR; A8MTL9; -.
DR STRING; 9606.ENSP00000386207; -.
DR GlyGen; A8MTL9; 1 site.
DR iPTMnet; A8MTL9; -.
DR PhosphoSitePlus; A8MTL9; -.
DR BioMuta; HMSD; -.
DR EPD; A8MTL9; -.
DR MassIVE; A8MTL9; -.
DR PaxDb; A8MTL9; -.
DR PeptideAtlas; A8MTL9; -.
DR PRIDE; A8MTL9; -.
DR ProteomicsDB; 2034; -. [A8MTL9-1]
DR DNASU; 284293; -.
DR Ensembl; ENST00000408945.5; ENSP00000386207.3; ENSG00000221887.6. [A8MTL9-1]
DR GeneID; 284293; -.
DR KEGG; hsa:284293; -.
DR MANE-Select; ENST00000408945.5; ENSP00000386207.3; NM_001123366.2; NP_001116838.1.
DR UCSC; uc010dqj.4; human. [A8MTL9-1]
DR CTD; 284293; -.
DR DisGeNET; 284293; -.
DR GeneCards; HMSD; -.
DR HGNC; HGNC:23037; HMSD.
DR HPA; ENSG00000221887; Tissue enhanced (brain).
DR MIM; 612086; gene.
DR neXtProt; NX_A8MTL9; -.
DR OpenTargets; ENSG00000221887; -.
DR PharmGKB; PA162391030; -.
DR VEuPathDB; HostDB:ENSG00000221887; -.
DR eggNOG; KOG2392; Eukaryota.
DR GeneTree; ENSGT00940000154519; -.
DR HOGENOM; CLU_023330_5_3_1; -.
DR InParanoid; A8MTL9; -.
DR OMA; QALCFSK; -.
DR OrthoDB; 1124079at2759; -.
DR PhylomeDB; A8MTL9; -.
DR PathwayCommons; A8MTL9; -.
DR SignaLink; A8MTL9; -.
DR BioGRID-ORCS; 284293; 13 hits in 1060 CRISPR screens.
DR ChiTaRS; HMSD; human.
DR GenomeRNAi; 284293; -.
DR Pharos; A8MTL9; Tdark.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; A8MTL9; protein.
DR Bgee; ENSG00000221887; Expressed in C1 segment of cervical spinal cord and 94 other tissues.
DR ExpressionAtlas; A8MTL9; baseline and differential.
DR GO; GO:0005615; C:extracellular space; IEA:InterPro.
DR GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IEA:UniProtKB-KW.
DR GO; GO:0002253; P:activation of immune response; IDA:UniProtKB.
DR Gene3D; 3.30.497.10; -; 1.
DR InterPro; IPR023796; Serpin_dom.
DR InterPro; IPR000215; Serpin_fam.
DR InterPro; IPR036186; Serpin_sf.
DR InterPro; IPR042178; Serpin_sf_1.
DR PANTHER; PTHR11461; PTHR11461; 1.
DR Pfam; PF00079; Serpin; 1.
DR SUPFAM; SSF56574; SSF56574; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Protease inhibitor; Reference proteome;
KW Secreted; Serine protease inhibitor; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..139
FT /note="Serpin-like protein HMSD"
FT /id="PRO_0000343868"
FT CARBOHYD 50
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 139 AA; 15355 MW; 9CFB7D6C86F2C6CC CRC64;
MSISSALAMV FMGAKGNTAA QMSQALCFSK IGGEDGDIHR GFQSLLVAIN RTDTEYVLRT
ANGLFGEKSY DFLTGFTDSC GKFYQATIKQ LDFVNDTEKS TTRVNSWVAD KTKGENILLF
YFDNILNSFI VSSLQNCQI
