Aliases for HM13 Gene
Aliases for HM13 Gene
External Ids for HM13 Gene
- HGNC: 16435
- Entrez Gene: 81502
- Ensembl: ENSG00000101294
- OMIM: 607106
- UniProtKB: Q8TCT9
Previous GeneCards Identifiers for HM13 Gene
- GC20P029890
- GC20P030800
- GC20P030847
- GC20P029565
- GC20P030106
- GC20P026890
Summaries 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).
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HM13 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HM13 gene promoter:
Regulatory Element Products
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:
-
- 20q11.21 by Ensembl
- 20q11.21 by Entrez Gene
- 20q11.21 by HGNC
HM13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HM13 Gene
Post-translational modifications for HM13 Gene
- N-glycosylated.
- Ubiquitination at posLast=6161 and posLast=241241
- Glycosylation at isoforms=2, 4, 510 and isoforms=2, 4, 520
- Modification sites at PhosphoSitePlus
Other Protein References for HM13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HM13
- Novus Biologicals Antibodies for HM13
- Invitrogen Antibodies for HM13
- antibodies-online Antibodies for HM13: See all 37
- Search GeneTex for Antibodies for HM13
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HM13
- Origene Custom Protein Services for HM13
- antibodies-online Proteins for HM13: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HM13
Assay Products
No data available for DME Specific Peptides for HM13 Gene
Domains & Families for HM13 Gene
Protein Domains for HM13 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HM13 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TCT9UniProtKB/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.
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
| 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 |
Phenotypes for HM13 Gene
- MGI mutant phenotypes for HM13:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HM13:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Negative genetic interaction between BLM-/- and BLM+/+
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Models for HM13 Gene
- MGI Knock Outs for HM13:
-
- H13 tm1b(KOMP)Wtsi
Animal Model Products
-
Taconic Biosciences Mouse Models for HM13
-
ViGene Biosciences lentiviral particle packaged cDNA for HM13 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HM13 gene
- Search ViGene Biosciences for HM13
CRISPR Products
-
OriGene CRISPR knockouts for HM13
-
Santa Cruz Biotechnology (SCBT) CRISPR for HM13
- GenScript: Design CRISPR guide RNA sequences for HM13
miRNA for HM13 Gene
- miRTarBase miRNAs that target HM13
-
- hsa-mir-744-5p (MIRT037716)
- hsa-mir-193b-3p (MIRT041269)
- hsa-mir-16-5p (MIRT051212)
- hsa-mir-4430 (MIRT571141)
- hsa-mir-3652 (MIRT571142)
- hsa-mir-122-5p (MIRT571143)
- hsa-mir-3135b (MIRT571144)
- hsa-mir-504-3p (MIRT571145)
- hsa-mir-4746-3p (MIRT571146)
- hsa-mir-6839-3p (MIRT628131)
- hsa-mir-4507 (MIRT628132)
- hsa-mir-3940-5p (MIRT628133)
- hsa-mir-8057 (MIRT628134)
- hsa-mir-23b-5p (MIRT628135)
- hsa-mir-23a-5p (MIRT628136)
- hsa-mir-24-3p (MIRT628137)
- hsa-mir-4284 (MIRT628138)
- hsa-mir-6781-3p (MIRT628139)
- hsa-mir-2682-3p (MIRT628140)
- hsa-mir-6774-5p (MIRT628141)
- hsa-mir-635 (MIRT628142)
- hsa-mir-4772-3p (MIRT628143)
- hsa-mir-1304-3p (MIRT628144)
- hsa-mir-4485-5p (MIRT628145)
- hsa-mir-6890-3p (MIRT628146)
- hsa-mir-6848-3p (MIRT657383)
- hsa-mir-6843-3p (MIRT657384)
- hsa-mir-378a-5p (MIRT657385)
- hsa-mir-1193 (MIRT657386)
- hsa-mir-6821-3p (MIRT657387)
- hsa-mir-6790-3p (MIRT657388)
- hsa-mir-18a-3p (MIRT657389)
- hsa-mir-324-3p (MIRT657390)
- hsa-mir-1913 (MIRT657391)
- hsa-mir-660-3p (MIRT657392)
- hsa-mir-2392 (MIRT657393)
- hsa-mir-651-5p (MIRT657394)
- hsa-mir-6807-5p (MIRT657395)
- hsa-mir-760 (MIRT657396)
- hsa-mir-6822-3p (MIRT657397)
- hsa-mir-1290 (MIRT657398)
- hsa-mir-661 (MIRT657399)
- hsa-mir-3116 (MIRT657400)
- hsa-mir-1254 (MIRT657401)
- hsa-mir-149-5p (MIRT657402)
- hsa-mir-6872-3p (MIRT657403)
- hsa-mir-3159 (MIRT657404)
- hsa-mir-4279 (MIRT663630)
- hsa-mir-6778-3p (MIRT663631)
- hsa-mir-1976 (MIRT663632)
- hsa-mir-3653-5p (MIRT663633)
- hsa-mir-6727-3p (MIRT663634)
- hsa-mir-6747-3p (MIRT663635)
- hsa-mir-4722-3p (MIRT663636)
- hsa-mir-4532 (MIRT663637)
- hsa-mir-1247-3p (MIRT663638)
- hsa-mir-4740-3p (MIRT663639)
- hsa-mir-4650-5p (MIRT663640)
- hsa-mir-1972 (MIRT663641)
- hsa-mir-15a-3p (MIRT663642)
miRNA Products
- Search ViGene Biosciences for HM13
Inhibitory RNA Products
- Origene RNAi, siRNA, shRNA, and mouse_rna products in human, mouse, rat for HM13
- Browse OriGene Inhibitory RNA Products For HM13
-
ViGene Biosciences ready-to-package AAV shRNAs for HM13 gene
Clone Products
-
- MR217073L2
- MR217073L1
- MR217073
- MG217073
- MR217089L2
- MR217089L1
- MR217089
- MG217089
- MR202619L2
- MR202619L1
- MR202619
- MR218508L2
- MR218508L1
- MR218508
- MG218508
- MG202619
- RG218347
- RC218347L2
- RC218347L1
- RC218347
- RG217253
- RC217253L2
- RC217253L1
- RC217253
- RG215702
- RC215702L2
- RC215702L1
- RC215702
- RG200758
- RC200758L2
- RC200758L1
- RC200758
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HM13
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for HM13
-
ViGene Biosciences adenoviral particle packaged cDNA for HM13 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HM13 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HM13 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 3 |
| golgi apparatus | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | IBA | -- |
| GO:0005783 | endoplasmic reticulum | IDA,ISS | -- |
| GO:0005789 | endoplasmic reticulum membrane | IC | 25239945 |
| GO:0005791 | rough endoplasmic reticulum | IDA | 15998642 |
| GO:0005886 | plasma membrane | IEA | -- |
Pathways & Interactions for HM13 Gene
No Data Available
Interacting Proteins for HM13 Gene
Selected Interacting proteins:
Q8TCT9-HM13_HUMAN
ENSP00000381237
for HM13 Gene via
IID
UniProtKB
STRING
MINT
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for HM13 Gene
Transcripts for HM13 Gene
mRNA/cDNA for HM13 Gene
- (4) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (620) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HM13 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HM13
-
Santa Cruz Biotechnology (SCBT) CRISPR for HM13
- GenScript: Design CRISPR guide RNA sequences for HM13
miRNA Products
- Search ViGene Biosciences for HM13
Inhibitory RNA Products
- Origene RNAi, siRNA, shRNA, and mouse_rna products in human, mouse, rat for HM13
- Browse OriGene Inhibitory RNA Products For HM13
-
ViGene Biosciences ready-to-package AAV shRNAs for HM13 gene
Clone Products
-
- MR217073L2
- MR217073L1
- MR217073
- MG217073
- MR217089L2
- MR217089L1
- MR217089
- MG217089
- MR202619L2
- MR202619L1
- MR202619
- MR218508L2
- MR218508L1
- MR218508
- MG218508
- MG202619
- RG218347
- RC218347L2
- RC218347L1
- RC218347
- RG217253
- RC217253L2
- RC217253L1
- RC217253
- RG215702
- RC215702L2
- RC215702L1
- RC215702
- RG200758
- RC200758L2
- RC200758L1
- RC200758
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HM13
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: | - | - |
Expression for HM13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Pancreas (Endocrine System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HM13 Gene:
HM13SOURCE GeneReport for Unigene cluster for HM13 Gene:
Hs.373741mRNA 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(3.4)
- Pancreas(3.1)
- Intestine(3)
- Lung(2.6)
Primer Products
-
OriGene qPCR primer pairs for HM13
-
OriGene qPCR primer pairs and template standards for HM13
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HM13 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HM13 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HM13 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | H13 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hm13 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HM13 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HM13 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HM13 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
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 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9387 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008838 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Spp 34 35 |
|
||
| shanti 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | T05E11.5 36 |
|
|
|
| imp-2 35 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 35 |
|
OneToMany | |
| YPF1 37 |
|
|
|||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1133 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0436400 34 |
|
||
| 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 |
|
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)
Paralogs for HM13 Gene
Variants for HM13 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010034 | -- | 31,532,194(+) | GGCCA(A/G)GGAGG | intron-variant | |
| rs1000037121 | -- | 31,535,099(+) | AAAAA(A/G)AAGAA | intron-variant | |
| rs1000052074 | -- | 31,566,528(+) | GGCAT(A/C)CCCCA | intron-variant | |
| rs1000143400 | -- | 31,528,974(+) | ATCTT(A/C)TTTTT | intron-variant | |
| rs1000275236 | -- | 31,522,430(+) | GGTGG(C/T)AGGTG | intron-variant |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatitis c virus |
|
|
| hepatitis c |
|
|
| bagassosis |
|
|
| dracunculiasis |
|
|
| primary amebic meningoencephalitis |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for HM13 Gene
Publications for HM13 Gene
- 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
- 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
- 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
- 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
- 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
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- Custom Antibody ServicesOriGene Antibodies for HM13
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- Search Origene for MassSpec and Protein Over-expression Lysates for HM13
- Origene Custom Protein Services for HM13
- Origene siRNA, mouse_rna, shRNA, and RNAi products in human, mouse, rat for HM13
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- OriGene qPCR primer pairs for HM13
- OriGene qPCR primer pairs and template standards for HM13
- OriGene CRISPR knockouts for HM13
- MG202619
- MG218508
- MR218508
- MR218508L1
- MR218508L2
- MR202619
- MR202619L1
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- MG217089
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- MG217073
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- RC200758
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- RC217253
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- RC218347
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HM13
- GenScript: Next-day shipping cDNA ORF clone for HM13 in any vector
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- Sino Biological Human cDNA Clone for HM13
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HM13
- Novus Biologicals proteins and lysates for HM13
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for HM13
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for HM13: See all 37
- Search antibodies-online for kits
- antibodies-online Proteins for HM13: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for HM13
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- ViGene Biosciences adenoviral particle packaged cDNA for HM13 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HM13 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HM13 gene
- Search ViGene Biosciences for HM13
- Horizon Cell Lines for HM13
- Cyagen custom Knockout/knockin (KOKI) mouse models for HM13
- VectorBuilder custom plasmid, inducible vectors for HM13
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HM13
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HM13 Gene
- (1) GeneCards
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
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