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 16-JAN-2019, entry version 89. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Tsujimura A., Miyazaki M., Tsujimura K., Miyamura K., Ogawa S., RA Inoko H., Morishima Y., 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., RA Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., RA FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., RA Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R., RA Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., RA Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., RA Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., RA 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., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA 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 Note=This alternative splicing event arises as a consequence of CC an intronic polymorphism.; CC -!- TISSUE SPECIFICITY: Highly expressed in dendritic cells and CC primary leukemia cells, especially those of myeloid lineage. CC {ECO:0000269|PubMed:17409267}. CC -!- POLYMORPHISM: Minor histocompatibility antigen ACC-6 (mHA ACC-6) CC is encoded by HMSD-v which is an allelic variant of HMSD. HMSD-v CC results from an intronic single-nucleotide polymorphism located at CC position 5 of HMSD intron 2 leading to a G to A substitution. This CC variation in intron 2 induces skipping of exon 2 and frameshift, CC resulting in 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 CC frame different from that resulting in HMSD non variant form CC expression. Thus, HMSD sequence described in this entry does not CC contain the mHA ACC-6 peptide. {ECO:0000305}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.368077; -. DR UniGene; Hs.721604; -. DR ProteinModelPortal; A8MTL9; -. DR SMR; A8MTL9; -. DR STRING; 9606.ENSP00000386207; -. DR iPTMnet; A8MTL9; -. DR PhosphoSitePlus; A8MTL9; -. DR BioMuta; HMSD; -. DR EPD; A8MTL9; -. DR PaxDb; A8MTL9; -. DR PRIDE; A8MTL9; -. DR ProteomicsDB; 2034; -. DR Ensembl; ENST00000408945; ENSP00000386207; ENSG00000221887. [A8MTL9-1] DR GeneID; 284293; -. DR KEGG; hsa:284293; -. DR UCSC; uc010dqj.4; human. [A8MTL9-1] DR CTD; 284293; -. DR DisGeNET; 284293; -. DR EuPathDB; HostDB:ENSG00000221887.5; -. DR GeneCards; HMSD; -. DR HGNC; HGNC:23037; HMSD. DR MIM; 612086; gene. DR neXtProt; NX_A8MTL9; -. DR OpenTargets; ENSG00000221887; -. DR PharmGKB; PA162391030; -. DR eggNOG; KOG2392; Eukaryota. DR eggNOG; COG4826; LUCA. DR GeneTree; ENSGT00940000154519; -. DR HOGENOM; HOG000112922; -. DR InParanoid; A8MTL9; -. DR OMA; KTKGENI; -. DR OrthoDB; 1124079at2759; -. DR PhylomeDB; A8MTL9; -. DR GenomeRNAi; 284293; -. DR Proteomes; UP000005640; Chromosome 18. DR Bgee; ENSG00000221887; Expressed in 77 organ(s), highest expression level in C1 segment of cervical spinal cord. 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 InterPro; IPR023796; Serpin_dom. DR InterPro; IPR000215; Serpin_fam. DR InterPro; IPR036186; Serpin_sf. DR PANTHER; PTHR11461; PTHR11461; 1. DR Pfam; PF00079; Serpin; 1. DR SUPFAM; SSF56574; SSF56574; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Glycoprotein; KW Protease inhibitor; Reference proteome; Secreted; KW Serine protease inhibitor; Signal. FT SIGNAL 1 20 {ECO:0000255}. FT CHAIN 21 139 Serpin-like protein HMSD. FT /FTId=PRO_0000343868. FT CARBOHYD 50 50 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. SQ SEQUENCE 139 AA; 15355 MW; 9CFB7D6C86F2C6CC CRC64; MSISSALAMV FMGAKGNTAA QMSQALCFSK IGGEDGDIHR GFQSLLVAIN RTDTEYVLRT ANGLFGEKSY DFLTGFTDSC GKFYQATIKQ LDFVNDTEKS TTRVNSWVAD KTKGENILLF YFDNILNSFI VSSLQNCQI //