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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 Virus and Hepatitis C. 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

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

Enhancers for HM13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F031513 0.7 FANTOM5 ENCODE 21.4 +1.6 1573 4.3 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HM13 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1 ENSG00000274364
GH20F031518 1.5 FANTOM5 Ensembl ENCODE 20.1 +7.6 7594 6.8 KLF1 CEBPB ZNF316 ZFHX2 POLR2A IKZF1 EMSY EGR2 DEFB124 HM13 REM1 ENSG00000274364
GH20F031541 1 Ensembl ENCODE 18.8 +29.4 29419 4.2 KLF1 ESRRA ZMYM3 SIN3A ZNF7 ZNF316 FOS NFE2 MAFK NFE2L2 HM13 HM13-AS1 RNU6-384P MCTS2P ENSG00000274364
GH20F031580 0.9 ENCODE 18.4 +66.7 66662 1.5 SOX13 ZNF362 FOXA3 CEBPB CEBPG ZNF121 POLR2A SCRT2 CEBPA KDM1A HM13 ENSG00000278276 GC20P031584
GH20F031565 0.6 Ensembl ENCODE 18.3 +55.8 55780 9.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC HM13 COX4I2 ID1 MCTS2P MYLK2 HM13-AS1 PIR57123 HM13-IT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HM13 on UCSC Golden Path with GeneCards custom track

Promoters for HM13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001836617 391 2000 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for HM13 Gene

Chromosome:
20
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

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

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

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 (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

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

miRNA for HM13 Gene

miRTarBase miRNAs that target HM13

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

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

SuperPathways for HM13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006465 signal peptide processing IBA --
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
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

(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:

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 from GTEx, Illumina, BioGPS, and 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.
genes like me logo Genes that share expression patterns with HM13: view

Primer 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 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia HM13 34 35
  • 94.6 (n)
cow
(Bos Taurus)
Mammalia HM13 34 35
  • 92.31 (n)
mouse
(Mus musculus)
Mammalia H13 34 16 35
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Hm13 34
  • 90.93 (n)
oppossum
(Monodelphis domestica)
Mammalia HM13 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HM13 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves HM13 34 35
  • 81.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 90 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5090 34
African clawed frog
(Xenopus laevis)
Amphibia h13-prov 34
zebrafish
(Danio rerio)
Actinopterygii hm13 34 34 35
  • 76.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9387 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008838 34
  • 68.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spp 34 35
  • 66.86 (n)
shanti 36
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea T05E11.5 36
  • 39 (a)
imp-2 35
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 16 (a)
OneToMany
YPF1 37
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1133 34
rice
(Oryza sativa)
Liliopsida Os05g0436400 34
  • 53.46 (n)
Os.7138 34
barley
(Hordeum vulgare)
Liliopsida Hv.7727 34
corn
(Zea mays)
Liliopsida Zm.9196 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5493 35
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4388 34
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 Sequence Context AA Info Type
rs10211827 -- 31,558,971(+) tggaa(C/T)gcagt intron-variant
rs1044419 -- 31,554,796(+) ACTTT(C/G)CCATG reference, missense
rs1044596 -- 31,569,382(+) TCCTT(C/T)TCCCT intron-variant, utr-variant-3-prime
rs1044601 -- 31,569,390(+) CCTTT(C/T)TTGGC intron-variant, utr-variant-3-prime
rs1044606 -- 31,569,402(+) CTCCT(C/T)TGCTC intron-variant, utr-variant-3-prime

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitic c virus
hepatitis c
  • chronic hepatitis c
bagassosis
  • sugar cane worker pneumonitis
peach allergy
  • prunus persica fruit allergy
primary amebic meningoencephalitis
  • naegleria fowleri infection
- elite association - COSMIC cancer census association via MalaCards
Search HM13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HM13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.R. … Lehner P.J. (J. Cell Biol. 2009) 3 4 22 64
  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 22 64
  3. 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 22 64
  4. 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 22 64
  5. 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 22 64

Products for HM13 Gene

Sources for HM13 Gene

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