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Aliases for HM13 Gene

Aliases for HM13 Gene

  • Histocompatibility Minor 13 2 3 5
  • Presenilin-Like Protein 3 2 3 4
  • Signal Peptide Peptidase Like 1 2 3
  • Signal Peptide Peptidase Beta 2 3
  • Intramembrane Protease 1 3 4
  • IMPAS-1 3 4
  • IMP1 3 4
  • PSL3 3 4
  • H13 3 4
  • SPP 3 4
  • Minor Histocompatibility Antigen H13 3
  • Minor Histocompatibility Antigen 13 3
  • Signal Peptide Peptidase 4
  • Intramembrane Protease 2
  • EC 3.4.23.- 4
  • MSTP086 3
  • PSENL3 3
  • IMPAS 3
  • SPPL1 3
  • IMP-1 4
  • HIMP1 4

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 Hepatitis C and Hepatitis C Virus. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and peptidase activity. An important paralog of this gene is SPPL2B.

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 (PubMed:11714810). 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 (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity).

Gene Wiki entry for HM13 Gene

Additional gene information for HM13 Gene

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

Genomics for HM13 Gene

GeneHancer (GH) Regulatory Elements for HM13 Gene

Promoters and enhancers for HM13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I031513 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 571.4 +1.6 1573 4.3 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 HM13 DEFB124 ASXL1 REM1 ENSG00000274364
GH20I031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17 +93.0 93042 11.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ID1 MIR3193 GC20P031606 ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1
GH20I031565 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 18.3 +55.8 55780 9.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 PIR57123 ASXL1 TM9SF4 HM13 COX4I2 ID1 MCTS2P PLAGL2 MYLK2 HM13-AS1
GH20I031546 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 18 +35.5 35465 7.4 PKNOX1 ATF1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 BRCA1 HM13 COX4I2 ID1 HM13-AS1 RNU6-384P TM9SF4 ASXL1 DEFB124 MCTS2P HM13-IT1
GH20I031590 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17 +80.4 80439 8.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A HM13 ASXL1 TM9SF4 MCTS2P COX4I2 ID1 LOC105372588 RNU6-384P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HM13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HM13 gene promoter:

Genomic Locations for HM13 Gene

Genomic Locations for HM13 Gene
chr20:31,514,410-31,577,923
(GRCh38/hg38)
Size:
63,514 bases
Orientation:
Plus strand
chr20:30,102,231-30,157,370
(GRCh37/hg19)

Genomic View for HM13 Gene

Genes around HM13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HM13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Monomer (PubMed:15385547, PubMed:15998642). Homodimer (PubMed:15385547, PubMed:15998642). 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

Post-translational modifications for HM13 Gene

No data available for DME Specific Peptides for HM13 Gene

Domains & Families for HM13 Gene

Gene Families for HM13 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for HM13 Gene

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 :
  • The first transmembrane domain may act as a type I signal anchor (PubMed:12077416, PubMed:15385547). The PAL motif is required for normal active site conformation (By similarity).
  • Belongs to the peptidase A22B family.
Domain:
  • The first transmembrane domain may act as a type I signal anchor (PubMed:12077416, PubMed:15385547). The PAL motif is required for normal active site conformation (By similarity).
Family:
  • Belongs to the peptidase A22B family.
genes like me logo Genes that share domains with HM13: view

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 (PubMed:11714810). 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 (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity).

Enzyme Numbers (IUBMB) for HM13 Gene

Phenotypes From GWAS Catalog for HM13 Gene

Gene Ontology (GO) - Molecular Function for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19720873
GO:0008233 peptidase activity IEA,IDA 14741365
GO:0016787 hydrolase activity IEA --
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
genes like me logo Genes that share phenotypes with HM13: view

Animal Models for HM13 Gene

MGI Knock Outs for HM13:
  • H13 tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for HM13

CRISPR Products

miRNA for HM13 Gene

miRTarBase miRNAs that target HM13

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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. Membrane; Multi-pass membrane protein; Lumenal side.
Isoform 4: Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HM13 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 3
golgi apparatus 3
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IC 25239945
GO:0005791 rough endoplasmic reticulum IDA 15998642
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with HM13: view

Pathways & Interactions for HM13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
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
GO:0051289 protein homotetramerization TAS 25239945
genes like me logo Genes that share ontologies with HM13: view

No data available for Pathways by source and SIGNOR curated interactions for HM13 Gene

Drugs & Compounds for HM13 Gene

(1) Drugs for HM13 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Theophylline Approved Pharma Antagonist, Target 67

(2) Additional Compounds for HM13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for HM13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HM13 Gene

This gene is overexpressed in Nasal epithelium (45.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HM13 Gene



Protein tissue co-expression partners for HM13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HM13 Gene:

HM13

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.

Evidence on tissue expression from TISSUES for HM13 Gene

  • Nervous system(4.8)
  • Muscle(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Skin(3.5)
  • Pancreas(3.1)
  • Intestine(3)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with HM13: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia HM13 33 34
  • 94.6 (n)
cow
(Bos Taurus)
Mammalia HM13 33 34
  • 92.31 (n)
mouse
(Mus musculus)
Mammalia H13 16 34 33
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Hm13 33
  • 90.93 (n)
oppossum
(Monodelphis domestica)
Mammalia HM13 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HM13 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves HM13 33 34
  • 81.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 90 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5090 33
African clawed frog
(Xenopus laevis)
Amphibia h13-prov 33
zebrafish
(Danio rerio)
Actinopterygii hm13 33 33 34
  • 76.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9387 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008838 33
  • 68.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spp 33 34
  • 66.86 (n)
shanti 35
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea T05E11.5 35
  • 39 (a)
imp-2 34
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 16 (a)
OneToMany
YPF1 36
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1133 33
rice
(Oryza sativa)
Liliopsida Os05g0436400 33
  • 53.46 (n)
Os.7138 33
barley
(Hordeum vulgare)
Liliopsida Hv.7727 33
corn
(Zea mays)
Liliopsida Zm.9196 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5493 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4388 33
Species where no ortholog for HM13 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000010034 -- 31,532,194(+) A/G intron_variant
rs1000037121 -- 31,535,099(+) G/A intron_variant
rs1000052074 -- 31,566,528(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000143400 -- 31,528,974(+) C/A intron_variant
rs1000275236 -- 31,522,430(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
esv3645652 CNV gain 21293372
esv3645653 CNV gain 21293372
esv3645654 CNV loss 21293372
nsv1118664 CNV duplication 24896259
nsv3345 CNV deletion 18451855
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585911 CNV gain 21841781
nsv828712 CNV loss 20364138

Variation tolerance for HM13 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HM13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HM13

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

Disorders for HM13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HM13 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatitis c
  • chronic hepatitis c
hepatitis c virus
  • hepatitis c virus, susceptibility to
bagassosis
  • sugar cane worker pneumonitis
primary amebic meningoencephalitis
  • naegleria fowleri infection
dracunculiasis
  • dracontiasis
- elite association - COSMIC cancer census association via MalaCards
Search HM13 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HM13

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

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

Publications for HM13 Gene

  1. The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER. (PMID: 19720873) Stagg HR … Lehner PJ (The Journal of cell biology 2009) 3 4 22 58
  2. Signal peptide peptidase forms a homodimer that is labeled by an active site-directed gamma-secretase inhibitor. (PMID: 14704149) Nyborg AC … Golde TE (The Journal of biological chemistry 2004) 2 3 22 58
  3. Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein. (PMID: 14741365) Moliaka YK … Rogaev EI (FEBS letters 2004) 3 4 22 58
  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 (The Journal of biological chemistry 2004) 3 4 22 58
  5. Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development. (PMID: 12972007) Urny J … Schaller HC (Gene expression patterns : GEP 2003) 3 4 22 58

Products for HM13 Gene

Sources for HM13 Gene

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