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HM13 Gene

protein-coding   GIFtS: 54
GCID: GC20P030106

Histocompatibility (Minor) 13

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Histocompatibility (Minor) 131 2     hIMP12 3
Presenilin-Like Protein 31 2 3     Intramembrane Protease1
SPP2 3 5     IMPAS2
Signal Peptide Peptidase Beta1 2     MSTP0862
Signal Peptide Peptidase Like 11 2     PSENL32
Intramembrane Protease 12 3     SPPL12
H132 3     dJ324O17.12
IMP-12 3     Minor Histocompatibility Antigen 132
IMP12 3     Minor Histocompatibility Antigen H132
IMPAS-12 3     EC 3.4.23.-3
PSL32 3     Signal Peptide Peptidase3

External Ids:    HGNC: 164351   Entrez Gene: 815022   Ensembl: ENSG000001012947   OMIM: 6071065   UniProtKB: Q8TCT93   

Export aliases for HM13 gene to outside databases

Previous GC identifers: GC20P029890 GC20P030800 GC20P030847 GC20P029565 GC20P026890


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 granulomatous amebic encephalitis. GO annotations related to this gene include protein homodimerization activity and aspartic endopeptidase activity, intramembrane cleaving. An important paralog of this gene is SPPL2C.

UniProtKB/Swiss-Prot: HM13_HUMAN, Q8TCT9
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

Gene Wiki entry for HM13 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HM13 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHM13 promoter sequence
   Search Chromatin IP Primers for HM13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HM13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

HM13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HM13 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030106:  view genomic region     (about GC identifiers)

Start:
30,102,231 bp from pter      End:
30,157,370 bp from pter
Size:
55,140 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HM13_HUMAN, Q8TCT9 (See protein sequence)
Recommended Name: Minor histocompatibility antigen H13  
Size: 377 amino acids; 41488 Da
Subunit: Interacts with RNF139
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;
Secondary accessions: B2RAY5 E1P5L3 Q15K36 Q540H8 Q5JWP2 Q5JWP3 Q5JWP4 Q5JWP5 Q7Z4F2 Q86Y35
Q95H87 Q9H110 Q9H111
Alternative splicing: 4 isoforms:  Q8TCT9-1   Q8TCT9-2   Q8TCT9-4   Q8TCT9-5   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for HM13: NX_Q8TCT9

Explore proteomics data for HM13 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitination2 at Lys61, Lys241
  • Glycosylation2 at Asn10, Asn20
  • Modification sites at PhosphoSitePlus

  • See HM13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_110416.1  NP_848695.1  NP_848696.1  NP_848697.1  

    ENSEMBL proteins: 
     ENSP00000335294   ENSP00000343032   ENSP00000381237   ENSP00000341347   ENSP00000365296  

    HM13 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HM13

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    LSBio Antibodies in human, mouse, rat for HM13

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    Cloud-Clone Corp. CLIAs for HM13


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006639 Preselin/SPP
     IPR007369 Peptidase_A22B_SPP

    Graphical View of Domain Structure for InterPro Entry Q8TCT9

    ProtoNet protein and cluster: Q8TCT9

    UniProtKB/Swiss-Prot: HM13_HUMAN, Q8TCT9
    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)
    Similarity: Belongs to the peptidase A22B family


    HM13 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HM13_HUMAN, Q8TCT9
    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

         Enzyme Number (IUBMB): EC 3.4.23.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004190aspartic-type endopeptidase activity ----
    GO:0005515protein binding IPI19720873
    GO:0008233peptidase activity IDA14741365
    GO:0042500aspartic endopeptidase activity, intramembrane cleaving IMP16873890
    GO:0042803protein homodimerization activity IDA15385547
         
    HM13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HM13:
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HM13
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HM13
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    hsa-mir-16-5p (MIRT051212), hsa-mir-193b-3p (MIRT041269), hsa-mir-744-5p (MIRT037716)

    Block miRNA regulation of human, mouse, rat HM13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HM13 (see all 26):
    hsa-miR-194* hsa-miR-3685 hsa-miR-4254 hsa-miR-328 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-486-3p hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidHM13 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for HM13
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HM13

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HM13


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HM13_HUMAN, Q8TCT9: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    HM13_HUMAN, Q8TCT9: Isoform 4: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol1
    endosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane ----
    GO:0005791rough endoplasmic reticulum IDA15998642
    GO:0005886plasma membrane IEA--
    GO:0009986cell surface ISS--

    HM13 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HM13
    Interactions:

        GeneGlobe Interaction Network for HM13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for HM13 (Q8TCT91, 2, 3 ENSP000003812374) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABHD16AO958703, ENSP000003792824I2D: score=3 STRING: ENSP00000379282
    ENSG00000236063O958703, ENSP000004069654I2D: score=3 STRING: ENSP00000406965
    ENSG00000206403O958703I2D: score=3 
    ENSG00000224552O958703I2D: score=3 
    ENSG00000230475O958703I2D: score=3 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006509NOT membrane protein ectodomain proteolysis IMP17965014
    GO:0031293NOT membrane protein intracellular domain proteolysis IMP16829952
    GO:0033619membrane protein proteolysis IDA14741365

    HM13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HM13

    2 Novoseek inferred chemical compound relationships for HM13 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 26.6 3 12966028 (1), 16305624 (1)
    lipid 0 1 19281487 (1)



    HM13 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HM13 gene (4 alternative transcripts): 
    NM_030789.3  NM_178580.2  NM_178581.2  NM_178582.2  

    Unigene Cluster for HM13:

    Histocompatibility (minor) 13
    Hs.373741  [show with all ESTs]
    Unigene Representative Sequence: BX647112
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000335574(uc002wwd.3 uc002wwf.3) ENST00000340852(uc002wwe.3)
    ENST00000398174(uc002wwc.3) ENST00000498035(uc002wwb.1) ENST00000496438
    ENST00000344042 ENST00000460225 ENST00000466766 ENST00000469126 ENST00000492709
    ENST00000469097 ENST00000487964 ENST00000464508 ENST00000479096 ENST00000464661
    ENST00000460389 ENST00000494153 ENST00000483310
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat HM13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HM13 (see all 26):
    hsa-miR-194* hsa-miR-3685 hsa-miR-4254 hsa-miR-328 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-486-3p hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidHM13 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HM13
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): HM13 (NM_178582)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HM13
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HM13
      QuantiTect SYBR Green Assays in human, mouse, rat HM13
      Search QuantiFast Probe-based Assays in human, mouse, rat HM13

    Additional mRNA sequence: 

    AF075033.1 AF172086.1 AF483215.1 AF515663.1 AJ345029.1 AJ420895.1 AK074686.1 AK075283.1 
    AK314410.1 AY169310.1 AY169311.1 AY169312.1 BC008938.2 BC008959.2 BC062595.1 BX647112.1 
    DQ168450.1 

    Selected DOTS entries (see all 35):

    DT.80100623  DT.100805248  DT.100038981  DT.95270191  DT.40212145  DT.95270196  DT.97855433  DT.100805252 
    DT.95333019  DT.100805254  DT.100038985  DT.100038982  DT.40133313  DT.87017325  DT.91679605  DT.97855438 
    DT.100702825  DT.100805249  DT.95270195  DT.100776867  DT.100805246  DT.101985228  DT.120827665  DT.91915805 

    Selected AceView cDNA sequences (see all 620):

    BM677093 AY169312 BG166398 AW591082 CA489421 NM_178581 BQ647589 BU168743 
    BU628269 BQ688748 CR610478 BU952174 BM769302 AI890355 AI349315 BQ936296 
    BX280270 BM807288 BX481625 BM699525 CR621277 BU076282 CA843937 AW163641 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HM13 (see all 16)    About this scheme

    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:                                                                                                                                                            

    ExUns: 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
    SP1:        -           -           -                     
    SP2:        -           -                                 
    SP3:        -           -     -     -                     
    SP4:                                                      
    SP5:        -                                             


    ECgene alternative splicing isoforms for HM13

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HM13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HM13 Expression
    About this image


    HM13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Lung (Respiratory System)
    HM13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HM13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.373741

    UniProtKB/Swiss-Prot: HM13_HUMAN, Q8TCT9
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HM13

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HM13 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H131 , 5 histocompatibility 131, 5 91.42(n)1
    96.02(a)1
      2 (75.41 cM)5
    149501  NM_010376.41  NP_034506.11 
     1526694615 
    chicken
    (Gallus gallus)
    Aves HM131 histocompatibility (minor) 13 81.33(n)
    89.77(a)
      100859573  XM_004947155.1  XP_004947212.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    90(a)
    83(a)
    many → 1
    many → 1
    GL343976.1(110183-122916)
    AAWZ02037266(482-15684)
    African clawed frog
    (Xenopus laevis)
    Amphibia h13-prov2 histocompatibility 13 77.49(n)    BC056007.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hm132 Danio rerio cDNA clone MGC56660 IMAGE5916343, complete more 79.19(n)    BC053414.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shanti3
    Spp1
    signal peptide peptidase3
    Signal peptide protease1
    65(a)3
    66.86(n)1
    63.91(a)1
      21D13
    332271  NM_078720.31  NP_523444.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05E11.53 Yeast YKK0 like 39(a)   IV(11117231-11119038)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YKL100C)4 Putative protein of unknown function with similarity more   --   11(255460-253697) 853761  NP_012822.1 
    soybean
    (Glycine max)
    eudicotyledons 467707572   -- 71.2(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.71382 Oryza sativa (japonica cultivar-group) cDNA clone0 more 71.39(n)    AK060776.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HM13 gene
    SPPL2C2  SPPL2A2  SPPL32  

    HM13 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for HM13 (see all 1089)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1811210181,2
    --30100277(+) TGACAG/TAGCAA 4 -- us2k10--------
    rs1848442241,2
    --30100301(+) AAAAAA/TAAATA 4 -- us2k10--------
    rs1386944431,2
    C--30100309(+) ATAAAA/TAATAA 4 -- us2k10--------
    rs1492405341,2
    --30100389(+) AGGCCA/GAAGTG 4 -- us2k10--------
    rs1138251411,2
    F--30100433(+) GCCTGG/AGCAAC 4 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1888552001,2
    --30100443(+) CATGCC/TGAAAC 4 -- us2k10--------
    rs1484873591,2
    --30100481(+) TAGCCA/GGGCGT 4 -- us2k10--------
    rs1458506471,2
    C--30100625(+) CTCAA-/AAT/  
      AATAAT
    AATAA
    8 -- cds10--------
    rs1481691171,2
    C--30100693(+) CAGTG-/AATGCT 4 -- us2k10--------
    rs1417688331,2
    C--30100787(+) GCAGGA/GGGATC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for HM13 (30102231 - 30157370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HM13:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv828712CNV Loss20364138
    nsv3345CNV Loss18451855
    nsv458961CNV Gain19166990
    nsv470546CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HM13
    DNA2.0 Custom Variant and Variant Library Synthesis for HM13

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607106    OMIM disorders: --

    13 diseases for HM13:    
    About MalaCards
    peanut allergic reaction    granulomatous amebic encephalitis    epididymo-orchitis    bagassosis
    malaria, severe    orchitis    hepatitis c    meningoencephalitis
    hepatitis c virus    hepatitis    malaria    encephalitis
    alzheimer's disease

    3 diseases from the University of Copenhagen DISEASES database for HM13:
    Peanut allergic reaction     Alzheimer's disease     Primary amebic meningoencephalitis

    HM13 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for HM13 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 44.9 3 16834339 (1), 15385547 (1)
    hepatitis c 31.4 4 16227228 (2), 19281487 (1), 12966028 (1)
    malaria 0 3 19337374 (2), 16873890 (2), 19174148 (1)


    Export disorders for HM13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HM13 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with HM13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of signal peptide peptidase, a presenilin-type aspartic protease. (PubMed id 12077416)1, 2, 3 Weihofen A.... Martoglio B. (Science 2002)
    2. Signal peptide peptidase forms a homodimer that is labeled by an active site-directed gamma-secretase inhibitor. (PubMed id 14704149)1, 3, 9 Nyborg A.C....Golde T.E. (J. Biol. Chem. 2004)
    3. Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development. (PubMed id 12972007)1, 2, 9 Urny J.... Chica Schaller H. (Gene Expr. Patterns 2003)
    4. Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. (PubMed id 15385547)1, 2, 9 Friedmann E.... Martoglio B. (J. Biol. Chem. 2004)
    5. The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER. (PubMed id 19720873)1, 2, 9 Stagg H.R.... Lehner P.J. (J. Cell Biol. 2009)
    6. Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein. (PubMed id 14741365)1, 2, 9 Moliaka Y.K.... Rogaev E.I. (FEBS Lett. 2004)
    7. Cell-surface expression of a new splice variant of the mouse signal peptide peptidase. (PubMed id 16730383)1, 2 Urny J.... Schaller H.C. (Biochim. Biophys. Acta 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Intramembrane proteolysis promotes trafficking of hepatitis C virus core protein to lipid droplets. (PubMed id 12145199)1, 2 McLauchlan J.... Martoglio B. (EMBO J. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 81502 HGNC: 16435 AceView: HM13 Ensembl:ENSG00000101294 euGenes: HUgn81502
    ECgene: HM13 H-InvDB: HM13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HM13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HM13 gene:
    Search GeneIP for patents involving HM13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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