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Protein

Serpin-like protein HMSD

Gene

HMSD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Putative serine protease inhibitor.By similarity

Caution

Translation of HMSD-v form generating mHA ACC-6 is in a frame different from that resulting in HMSD non variant form expression. Thus, HMSD sequence described in this entry does not contain the mHA ACC-6 peptide.Curated

GO - Molecular functioni

GO - Biological processi

  • activation of immune response Source: UniProtKB

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor

Names & Taxonomyi

Protein namesi
Recommended name:
Serpin-like protein HMSD
Alternative name(s):
Minor histocompatibility protein HMSD
Minor histocompatibility serpin domain-containing protein
Gene namesi
Name:HMSD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000221887.5
HGNCiHGNC:23037 HMSD
MIMi612086 gene
neXtProtiNX_A8MTL9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi284293
OpenTargetsiENSG00000221887
PharmGKBiPA162391030

Polymorphism and mutation databases

BioMutaiANKRD6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000034386821 – 139Serpin-like protein HMSDAdd BLAST119

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi50N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiA8MTL9
PaxDbiA8MTL9
PRIDEiA8MTL9
ProteomicsDBi2034

PTM databases

iPTMnetiA8MTL9
PhosphoSitePlusiA8MTL9

Expressioni

Tissue specificityi

Highly expressed in dendritic cells and primary leukemia cells, especially those of myeloid lineage.1 Publication

Gene expression databases

BgeeiENSG00000221887 Expressed in 77 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiA8MTL9 baseline and differential

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000386207

Structurei

3D structure databases

ProteinModelPortaliA8MTL9
SMRiA8MTL9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000151138
HOGENOMiHOG000112922
InParanoidiA8MTL9
OMAiKTKGENI
OrthoDBiEOG091G0RM9
PhylomeDBiA8MTL9

Family and domain databases

InterProiView protein in InterPro
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: A8MTL9-1) [UniParc]FASTAAdd to basket
Also known as: HMSD

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSISSALAMV FMGAKGNTAA QMSQALCFSK IGGEDGDIHR GFQSLLVAIN
60 70 80 90 100
RTDTEYVLRT ANGLFGEKSY DFLTGFTDSC GKFYQATIKQ LDFVNDTEKS
110 120 130
TTRVNSWVAD KTKGENILLF YFDNILNSFI VSSLQNCQI
Length:139
Mass (Da):15,355
Last modified:December 4, 2007 - v1
Checksum:i9CFB7D6C86F2C6CC
GO
Isoform 2 (identifier: P0C7T4-1) [UniParc]FASTAAdd to basket
Also known as: HMSD-v
The sequence of this isoform can be found in the external entry P0C7T4.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: This alternative splicing event arises as a consequence of an intronic polymorphism.
Length:53
Mass (Da):6,023
GO

Polymorphismi

Minor histocompatibility antigen ACC-6 (mHA ACC-6) is encoded by HMSD-v which is an allelic variant of HMSD. HMSD-v results from an intronic single-nucleotide polymorphism located at position 5 of HMSD intron 2 leading to a G to A substitution. This variation in intron 2 induces skipping of exon 2 and frameshift, resulting in expression of ACC-6.

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BM696260 mRNA No translation available.
AW205887 mRNA No translation available.
AC009802 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63164.1
CCDSiCCDS42441.1 [A8MTL9-1]
RefSeqiNP_001116838.1, NM_001123366.1 [A8MTL9-1]
UniGeneiHs.368077
Hs.721604

Genome annotation databases

EnsembliENST00000408945; ENSP00000386207; ENSG00000221887 [A8MTL9-1]
GeneIDi284293
KEGGihsa:284293
UCSCiuc010dqj.4 human [A8MTL9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BM696260 mRNA No translation available.
AW205887 mRNA No translation available.
AC009802 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63164.1
CCDSiCCDS42441.1 [A8MTL9-1]
RefSeqiNP_001116838.1, NM_001123366.1 [A8MTL9-1]
UniGeneiHs.368077
Hs.721604

3D structure databases

ProteinModelPortaliA8MTL9
SMRiA8MTL9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000386207

PTM databases

iPTMnetiA8MTL9
PhosphoSitePlusiA8MTL9

Polymorphism and mutation databases

BioMutaiANKRD6

Proteomic databases

EPDiA8MTL9
PaxDbiA8MTL9
PRIDEiA8MTL9
ProteomicsDBi2034

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000408945; ENSP00000386207; ENSG00000221887 [A8MTL9-1]
GeneIDi284293
KEGGihsa:284293
UCSCiuc010dqj.4 human [A8MTL9-1]

Organism-specific databases

CTDi284293
DisGeNETi284293
EuPathDBiHostDB:ENSG00000221887.5
GeneCardsiHMSD
HGNCiHGNC:23037 HMSD
MIMi612086 gene
neXtProtiNX_A8MTL9
OpenTargetsiENSG00000221887
PharmGKBiPA162391030
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000151138
HOGENOMiHOG000112922
InParanoidiA8MTL9
OMAiKTKGENI
OrthoDBiEOG091G0RM9
PhylomeDBiA8MTL9

Miscellaneous databases

GenomeRNAii284293
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000221887 Expressed in 77 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiA8MTL9 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHMSD_HUMAN
AccessioniPrimary (citable) accession number: A8MTL9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: December 4, 2007
Last modified: November 7, 2018
This is version 87 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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