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Aliases for HM13 Gene

Aliases for HM13 Gene

  • Histocompatibility (Minor) 13 2 3
  • Presenilin-Like Protein 3 2 3 4
  • SPP 3 4 6
  • Signal Peptide Peptidase Like 1 2 3
  • Signal Peptide Peptidase Beta 2 3
  • Intramembrane Protease 1 3 4
  • IMPAS-1 3 4
  • IMP-1 3 4
  • HIMP1 3 4
  • IMP1 3 4
  • PSL3 3 4
  • H13 3 4
  • Minor Histocompatibility Antigen H13 3
  • Minor Histocompatibility Antigen 13 3
  • Signal Peptide Peptidase 4
  • Intramembrane Protease 2
  • EC 3.4.23.- 4
  • DJ324O17.1 3
  • MSTP086 3
  • PSENL3 3
  • IMPAS 3
  • SPPL1 3

External Ids for HM13 Gene

Previous GeneCards Identifiers for HM13 Gene

  • GC20P029890
  • GC20P030800
  • GC20P030847
  • GC20P029565
  • GC20P030106
  • GC20P026890

Summaries for HM13 Gene

Entrez Gene Summary for HM13 Gene

  • The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for HM13 Gene

HM13 (Histocompatibility (Minor) 13) is a Protein Coding gene. Diseases associated with HM13 include peanut allergic reaction and primary amebic meningoencephalitis. GO annotations related to this gene include protein homodimerization activity and aspartic endopeptidase activity, intramembrane cleaving. An important paralog of this gene is SPPL3.

UniProtKB/Swiss-Prot for HM13 Gene

  • Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides. May play a role in graft rejection (By similarity). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein. Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:11714810, PubMed:12077416, PubMed:12145199, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945).

Gene Wiki entry for HM13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HM13 Gene

Genomics for HM13 Gene

Regulatory Elements for HM13 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HM13 Gene

Start:
31,514,410 bp from pter
End:
31,577,923 bp from pter
Size:
63,514 bases
Orientation:
Plus strand

Genomic View for HM13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HM13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HM13 Gene

Proteins for HM13 Gene

  • Protein details for HM13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCT9-HM13_HUMAN
    Recommended name:
    Minor histocompatibility antigen H13
    Protein Accession:
    Q8TCT9
    Secondary Accessions:
    • B2RAY5
    • E1P5L3
    • Q15K36
    • Q540H8
    • Q5JWP2
    • Q5JWP3
    • Q5JWP4
    • Q5JWP5
    • Q7Z4F2
    • Q86Y35
    • Q95H87
    • Q9H110
    • Q9H111

    Protein attributes for HM13 Gene

    Size:
    377 amino acids
    Molecular mass:
    41488 Da
    Quaternary structure:
    • Interacts with RNF139 (PubMed:19720873, PubMed:25239945). Interacts with DERL1 and XBP1 isoform 1 (PubMed:25239945).
    SequenceCaution:
    • Sequence=AAQ13609.1; Type=Frameshift; Positions=320, 329, 330, 358; Evidence={ECO:0000305}; Sequence=BAC11138.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAI19152.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HM13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HM13 Gene

Proteomics data for HM13 Gene at MOPED

Post-translational modifications for HM13 Gene

No data available for DME Specific Peptides for HM13 Gene

Domains for HM13 Gene

Protein Domains for HM13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HM13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TCT9

UniProtKB/Swiss-Prot:

HM13_HUMAN :
  • Q8TCT9
Domain:
  • The first transmembrane domain may act as a type I signal anchor. The PAL motif is required for normal active site conformation.
Family:
  • Belongs to the peptidase A22B family.
genes like me logo Genes that share domains with HM13: view

No data available for Gene Families for HM13 Gene

Function for HM13 Gene

Molecular function for HM13 Gene

UniProtKB/Swiss-Prot Function: Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides. May play a role in graft rejection (By similarity). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein. Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:11714810, PubMed:12077416, PubMed:12145199, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945).

Enzyme Numbers (IUBMB) for HM13 Gene

Gene Ontology (GO) - Molecular Function for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity --
GO:0005515 protein binding IPI 19720873
GO:0008233 peptidase activity IDA 14741365
GO:0031625 ubiquitin protein ligase binding IPI 25239945
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving IMP 16873890
genes like me logo Genes that share ontologies with HM13: view

Phenotypes for HM13 Gene

genes like me logo Genes that share phenotypes with HM13: view

Animal Model Products

CRISPR Products

miRNA for HM13 Gene

miRTarBase miRNAs that target HM13

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HM13

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HM13 Gene

Localization for HM13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HM13 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.
Isoform 4: Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HM13 Gene COMPARTMENTS Subcellular localization image for HM13 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 1
endosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane --
GO:0005791 rough endoplasmic reticulum IDA 15998642
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface ISS --
genes like me logo Genes that share ontologies with HM13: view

Pathways for HM13 Gene

SuperPathways for HM13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006509 NOT membrane protein ectodomain proteolysis IMP 17965014
GO:0031293 NOT membrane protein intracellular domain proteolysis IMP 16829952
GO:0033619 membrane protein proteolysis IDA 14741365
genes like me logo Genes that share ontologies with HM13: view

No data available for Pathways by source for HM13 Gene

Compounds for HM13 Gene

(2) Novoseek inferred chemical compound relationships for HM13 Gene

Compound -log(P) Hits PubMed IDs
aspartate 26.6 2
lipid 0 1
genes like me logo Genes that share compounds with HM13: view

Transcripts for HM13 Gene

Unigene Clusters for HM13 Gene

Histocompatibility (minor) 13:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HM13

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HM13 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - -
SP5:
SP6:
SP7: - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - -
SP9: - -
SP10: - - - - - - - - -
SP11: -
SP12: - -
SP13: - - -
SP14:
SP15: -
SP16:

ExUns: 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
SP1: - - -
SP2: - -
SP3: - - - -
SP4:
SP5: -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -

Relevant External Links for HM13 Gene

GeneLoc Exon Structure for
HM13
ECgene alternative splicing isoforms for
HM13

Expression for HM13 Gene

mRNA expression in normal human tissues for HM13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HM13 Gene

SOURCE GeneReport for Unigene cluster for HM13 Gene Hs.373741

mRNA Expression by UniProt/SwissProt for HM13 Gene

Q8TCT9-HM13_HUMAN
Tissue specificity: Widely expressed with highest levels in kidney, liver, placenta, lung, leukocytes and small intestine and reduced expression in heart and skeletal muscle. Expressed abundantly in the CNS with highest levels in thalamus and medulla.
genes like me logo Genes that share expressions with HM13: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for HM13 Gene

Orthologs for HM13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HM13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HM13 35
  • 99.77 (n)
  • 100 (a)
HM13 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HM13 35
  • 92.31 (n)
  • 96.82 (a)
HM13 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HM13 35
  • 94.6 (n)
  • 98.12 (a)
HM13 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H13 35
  • 91.42 (n)
  • 96.02 (a)
H13 16
H13 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HM13 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HM13 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hm13 35
  • 90.93 (n)
  • 95.7 (a)
chicken
(Gallus gallus)
Aves HM13 35
  • 81.33 (n)
  • 89.77 (a)
HM13 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia h13-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5090 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9387 35
zebrafish
(Danio rerio)
Actinopterygii hm13 35
hm13 35
  • 76.13 (n)
  • 83.73 (a)
hm13 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008838 35
  • 68.57 (n)
  • 63.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spp 35
  • 66.86 (n)
  • 63.91 (a)
Spp 36
  • 57 (a)
OneToOne
shanti 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea imp-2 36
  • 32 (a)
OneToOne
T05E11.5 37
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 16 (a)
OneToMany
-- 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1133 35
barley
(Hordeum vulgare)
Liliopsida Hv.7727 35
corn
(Zea mays)
Liliopsida Zm.9196 35
rice
(Oryza sativa)
Liliopsida Os.7138 35
Os05g0436400 35
  • 53.46 (n)
  • 48.85 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4388 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5493 36
  • 51 (a)
OneToOne
Species with no ortholog for HM13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HM13 Gene

ENSEMBL:
Gene Tree for HM13 (if available)
TreeFam:
Gene Tree for HM13 (if available)

Paralogs for HM13 Gene

Paralogs for HM13 Gene

genes like me logo Genes that share paralogs with HM13: view

Variants for HM13 Gene

Sequence variations from dbSNP and Humsavar for HM13 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs170018 -- 31,518,388(+) gcctg(C/T)aatcc intron-variant
rs172560 -- 31,518,411(+) gaggc(C/T)gaggc intron-variant
rs177437 -- 31,518,444(+) agttc(A/G)agacc intron-variant
rs422832 -- 31,564,368(-) aactc(A/C)tgagc intron-variant
rs424555 -- 31,555,770(+) tcaag(A/C)ccagt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HM13 Gene

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv3345 CNV Loss 18451855
nsv828712 CNV Loss 20364138

Relevant External Links for HM13 Gene

HapMap Linkage Disequilibrium report
HM13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HM13 Gene

Disorders for HM13 Gene

(3) Novoseek inferred disease relationships for HM13 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 44.9 2
hepatitis c 31.4 4
malaria 0 5
genes like me logo Genes that share disorders with HM13: view

No data available for UniProtKB/Swiss-Prot for HM13 Gene

Publications for HM13 Gene

  1. Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development. (PMID: 12972007) Urny J. … Chica Schaller H. (Gene Expr. Patterns 2003) 3 4 23
  2. Signal peptide peptidase forms a homodimer that is labeled by an active site-directed gamma-secretase inhibitor. (PMID: 14704149) Nyborg A.C. … Golde T.E. (J. Biol. Chem. 2004) 2 3 23
  3. Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein. (PMID: 14741365) Moliaka Y.K. … Rogaev E.I. (FEBS Lett. 2004) 3 4 23
  4. Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. (PMID: 15385547) Friedmann E. … Martoglio B. (J. Biol. Chem. 2004) 3 4 23
  5. The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER. (PMID: 19720873) Stagg H.R. … Lehner P.J. (J. Cell Biol. 2009) 3 4 23

Products for HM13 Gene

Sources for HM13 Gene

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