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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HM13 Gene

protein-coding   GIFtS: 52
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HM13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Subcellular location: Isoform 4: Cell membrane; Multi-pass membrane protein (By similarity)
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:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TCT9

  • HM13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HM13 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_110416.1  NP_848695.1  NP_848696.1  NP_848697.1  

    ENSEMBL proteins: 
     ENSP00000335294   ENSP00000343032   ENSP00000381237   ENSP00000341347   ENSP00000365296  

    Human Recombinant Protein Products for HM13: 
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    Cloud-Clone Corp. Proteins for HM13 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006639 Peptidase_A22
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for HM13 
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    SwitchGear 3'UTR luciferase reporter plasmidHM13 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HM13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/28 Interacting proteins for HM13 (Q8TCT92, 3 ENSP000003812374) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HM13 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about HM13

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/25 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

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    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
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    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 

    24/35 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 

    24/620 AceView cDNA sequences (see all 620):

    BQ052578 BQ919948 CA941237 BU177965 BG028688 BQ638366 W04243 BE785607 
    CA429395 BM549524 BF848837 CA438832 CK824072 AF483215 BE502840 CB988257 
    BM047045 BM981109 BM763171 BE746694 BM699525 BQ961815 BG774962 NM_030789 

    GeneLoc Exon Structure

    5/16 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See HM13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HM13

    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
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HM13 gene from 10/26 species (see all 26)    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 76.91(n)
    81.86(a)
      100859573  XM_003642490.1  XP_003642538.1 
    lizard
    (Anolis carolinensis)
    Reptilia HM136
    HM136
    Uncharacterized protein
    90(a)
    81(a)
    1 ↔ 1
    possible ortholog
    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
    67.27(n)1
    64.65(a)1
      21D13
    332271  NM_078720.21  NP_523444.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05E11.53
    imp-21
    Yeast YKK0 like3
    Protein IMP-21
    39(a)3
    51.14(n)1
    44.98(a)1
      IV(11117231-11119038)3
    1780131  NM_069678.51  NP_502079.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YKL100C)4 Putative protein of unknown function with similarity more   --   11(255460-253697) 853761  NP_012822.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SPP1 minor histocompatibility antigen H13 51.43(n)
    46.39(a)
      814841  NM_126363.6  NP_565294.1 
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1089 SNPs in HM13 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    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.)
    About This Section
    OMIM gene information: 607106    OMIM disorders: --

    10 diseases for HM13:    About MalaCards
    peanut allergic reaction    granulomatous amebic encephalitis    epididymo-orchitis    bagassosis
    orchitis    hepatitis c    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)
    About This Section

    PubMed articles for HM13 gene, integrated from 9 sources (see all 83):
    (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. (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. (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. (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. (2004)
    5. The TRC8 E3 ligase ubiquitinates MHC class I molecule s before dislocation from the ER. (PubMed id 19720873)1, 2, 9 Stagg H.R....Lehner P.J. (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. (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. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    10. Intramembrane proteolysis promotes trafficking of hepatitis C virus core protein to lipid droplets. (PubMed id 12145199)1, 2 McLauchlan J.... Martoglio B. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 81502 HGNC: 16435 AceView: HM13 Ensembl:ENSG00000101294 euGenes: HUgn81502
    ECgene: HM13 H-InvDB: HM13

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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