Human Gene HM13 (ENST00000398174.9_8) from GENCODE V47lift37
  Description: histocompatibility minor 13, transcript variant 3 (from RefSeq NM_178581.3)
Gencode Transcript: ENST00000398174.9_8
Gencode Gene: ENSG00000101294.20_16
Transcript (Including UTRs)
   Position: hg19 chr20:30,102,245-30,157,346 Size: 55,102 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr20:30,102,355-30,157,022 Size: 54,668 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:30,102,245-30,157,346)mRNA (may differ from genome)Protein (426 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HM13_HUMAN
DESCRIPTION: RecName: Full=Minor histocompatibility antigen H13; EC=3.4.23.-; AltName: Full=Intramembrane protease 1; Short=IMP-1; Short=IMPAS-1; Short=hIMP1; AltName: Full=Presenilin-like protein 3; AltName: Full=Signal peptide peptidase;
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.
SUBUNIT: Interacts with RNF139.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
SUBCELLULAR LOCATION: Isoform 4: Cell membrane; Multi-pass membrane protein (By similarity).
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.
DOMAIN: The first transmembrane domain may act as a type I signal anchor (By similarity). The PAL motif is required for normal active site conformation (By similarity).
PTM: N-glycosylated.
SIMILARITY: Belongs to the peptidase A22B family.
SEQUENCE CAUTION: Sequence=AAQ13609.1; Type=Frameshift; Positions=320, 329, 330, 358; Sequence=BAC11138.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAI19152.1; Type=Erroneous gene model prediction; Sequence=CAI20173.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HM13
Diseases sorted by gene-association score: hepatitis c virus (7), hepatitis c (7), bagassosis (2), primary amebic meningoencephalitis (2), dracunculiasis (1), sarcocystosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C415363 1, 3-di-(N-carboxybenzoyl-leucyl-leucyl)amino acetone
  • C522903 2-(2-(3,5-difluorophenyl)-2-hydroxyacetamido)-N-(3-methyl-4-oxo-4,5-dihydro-3H-benzo(d)(1,2)diazepin-5-yl)propanamide
  • D016572 Cyclosporine
  • D004147 Dioxins
  • D004958 Estradiol
  • D005472 Fluorouracil
  • D019833 Genistein
  • C410009 L 685458
  • D013749 Tetrachlorodibenzodioxin
  • D013806 Theophylline
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.69 RPKM in Pancreas
Total median expression: 1056.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.90110-0.317 Picture PostScript Text
3' UTR -122.90324-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006639 - Peptidase_A22
IPR007369 - Peptidase_A22B_SPP

Pfam Domains:
PF04258 - Signal peptide peptidase

ModBase Predicted Comparative 3D Structure on Q8TCT9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004190 aspartic-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0016787 hydrolase activity
GO:0031625 ubiquitin protein ligase binding
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006508 proteolysis
GO:0033619 membrane protein proteolysis
GO:0051289 protein homotetramerization
GO:1904211 membrane protein proteolysis involved in retrograde protein transport, ER to cytosol
GO:0006509 membrane protein ectodomain proteolysis
GO:0031293 membrane protein intracellular domain proteolysis

Cellular Component:
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030660 Golgi-associated vesicle membrane
GO:0036513 Derlin-1 retrotranslocation complex
GO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  KJ894840 - Synthetic construct Homo sapiens clone ccsbBroadEn_04234 HM13 gene, encodes complete protein.
AK314410 - Homo sapiens cDNA, FLJ95190, Homo sapiens histocompatibility (minor) 13 (HM13), mRNA.
BC008938 - Homo sapiens histocompatibility (minor) 13, mRNA (cDNA clone MGC:2423 IMAGE:2961249), complete cds.
BC008959 - Homo sapiens histocompatibility (minor) 13, mRNA (cDNA clone MGC:4069 IMAGE:2961249), complete cds.
AY169310 - Homo sapiens intramembrane protease isoform 2 (IMP1) mRNA, complete cds.
AY169311 - Homo sapiens intramembrane protease isoform 1 (IMP1) mRNA, complete cds.
AY169312 - Homo sapiens intramembrane protease isoform 3 (IMP1) mRNA, complete cds.
AK075283 - Homo sapiens cDNA FLJ90802 fis, clone Y79AA1000226, highly similar to Minor histocompatibility antigen H13 (EC3.4.99.-).
DQ168450 - Homo sapiens signal peptide peptidase beta mRNA, complete cds, alternatively spliced.
AF172086 - Homo sapiens MSTP086 mRNA, complete cds.
BC062595 - Homo sapiens histocompatibility (minor) 13, mRNA (cDNA clone MGC:74542 IMAGE:5245982), complete cds.
AF483215 - Homo sapiens minor histocompatibility antigen H13 isoform 1 (H13) mRNA, complete cds.
AJ345029 - Homo sapiens mRNA for presenilin-like protein 3 (PSL3 gene).
AJ420895 - Homo sapiens mRNA for signal peptide peptidase (SPP gene).
DQ896206 - Synthetic construct Homo sapiens clone IMAGE:100010666; FLH191168.01L; RZPDo839A0567D histocompatibility (minor) 13 (HM13) gene, encodes complete protein.
CU687568 - Synthetic construct Homo sapiens gateway clone IMAGE:100021667 5' read HM13 mRNA.
KU178790 - Homo sapiens histocompatibility 13 isoform 1 (HM13) mRNA, partial cds.
KU178791 - Homo sapiens histocompatibility 13 isoform 2 (HM13) mRNA, complete cds, alternatively spliced.
AF515663 - Homo sapiens putative presenilin-like aspartyl protease mRNA, complete cds.
BC053868 - Homo sapiens cDNA clone IMAGE:5194843, **** WARNING: chimeric clone ****.
AK074686 - Homo sapiens cDNA FLJ90205 fis, clone MAMMA1001957, highly similar to Minor histocompatibility antigen 13 isoform 4.
JD196309 - Sequence 177333 from Patent EP1572962.
AF075033 - Homo sapiens full length insert cDNA YN52F10.
JD191853 - Sequence 172877 from Patent EP1572962.
JD038020 - Sequence 19044 from Patent EP1572962.
JD427194 - Sequence 408218 from Patent EP1572962.
JD319000 - Sequence 300024 from Patent EP1572962.
JD206582 - Sequence 187606 from Patent EP1572962.
JD181969 - Sequence 162993 from Patent EP1572962.
JD235634 - Sequence 216658 from Patent EP1572962.
JD556802 - Sequence 537826 from Patent EP1572962.
JD398555 - Sequence 379579 from Patent EP1572962.
JD111485 - Sequence 92509 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAY5, E1P5L3, ENST00000398174.1, ENST00000398174.2, ENST00000398174.3, ENST00000398174.4, ENST00000398174.5, ENST00000398174.6, ENST00000398174.7, ENST00000398174.8, H13, HM13_HUMAN, IMP1, MSTP086, NM_178581, PSL3, Q15K36, Q540H8, Q5JWP2, Q5JWP3, Q5JWP4, Q5JWP5, Q7Z4F2, Q86Y35, Q8TCT9, Q95H87, Q9H110, Q9H111, SPP, uc318zoh.1, uc318zoh.2
UCSC ID: ENST00000398174.9_8
RefSeq Accession: NM_178581.3
Protein: Q8TCT9 (aka HM13_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.