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The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated... See more...
Aliases for POMP Gene
Aliases for POMP Gene
External Ids for POMP Gene
- HGNC: 20330
- Entrez Gene: 51371
- Ensembl: ENSG00000132963
- OMIM: 613386
- UniProtKB: Q9Y244
Previous HGNC Symbols for POMP Gene
- C13orf12
Previous GeneCards Identifiers for POMP Gene
- GC13P028132
- GC13P029233
- GC13P010055
Summaries for POMP Gene
-
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
GeneCards Summary for POMP Gene
POMP (Proteasome Maturation Protein) is a Protein Coding gene. Diseases associated with POMP include Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma and Proteasome-Associated Autoinflammatory Syndrome 2. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation.
UniProtKB/Swiss-Prot Summary for POMP Gene
-
Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.
Additional gene information for POMP Gene
- HGNC(20330)
- Entrez Gene(51371)
- Ensembl(ENSG00000132963)
- OMIM(613386)
- UniProtKB(Q9Y244)
- Open Targets Platform(ENSG00000132963)
- Monarch Initiative
- Search for POMP at DataMed
- Search for POMP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMP Gene
Genomics for POMP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for POMP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around POMP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POMP
- Top Transcription factor binding sites by QIAGEN in the POMP gene promoter:
-
- AP-1
- AREB6
- c-Fos
- c-Jun
- FosB
- GATA-1
- GATA-2
- GATA-3
- HOXA5
- p300
Genomic Locations for POMP Gene
Genomic Locations for POMP Gene
- chr13:28,659,104-28,678,959
- (GRCh38/hg38)
- Size:
- 19,856 bases
- Orientation:
- Plus strand
- chr13:29,233,141-29,253,094
- (GRCh37/hg19)
- Size:
- 19,954 bases
- Orientation:
- Plus strand
Genomic View for POMP Gene
Genes around POMP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q12.3 by HGNC
- 13q12.3 by Entrez Gene
- 13q12.3 by Ensembl
POMP 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 POMP Gene
Proteins for POMP Gene
-
Protein details for POMP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y244-POMP_HUMAN
- Recommended name:
- Proteasome maturation protein
- Protein Accession:
- Q9Y244
- A5HKJ2
- D6MXU3
- Q9HB69
Protein attributes for POMP Gene
- Size:
- 141 amino acids
- Molecular mass:
- 15789 Da
- Quaternary structure:
-
- Constituent of preproteasomes, but not of mature 20S proteasomes. Within the preproteasome, may directly interact with PSMB1/beta6, PSMB4/beta7, PSMB5/beta5, PSMB6/beta1 and PSMB9/beta1i. Interaction with PSMB8/beta5i has been observed in PubMed:10973495, but not in PubMed:10926487. Forms tetramers.
- SequenceCaution:
-
- Sequence=AAG23819.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for POMP Gene
Post-translational modifications for POMP Gene
Other Protein References for POMP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for POMP
-
Abcam antibodies for POMP
- Invitrogen Antibodies for POMP (AFLGC-POMP)
-
Biorbyt antibodies for POMP
-
Boster Bio Antibodies for POMP
-
Santa Cruz Biotechnology (SCBT) Antibodies for POMP
Protein Products
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- antibodies-online: Show 8 available HSPC014 Proteins ranked by validation data
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-
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Abcam proteins for POMP
Assay Products
- antibodies-online: Show 5 available HSPC014 Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for POMP Gene
Domains & Families for POMP Gene
Gene Families for POMP Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for POMP Gene
- GenScript: Design optimal peptide antigens:
-
- Proteasome maturation protein (D6MXU3_HUMAN)
- Voltage-gated K channel beta subunit 4.1 (POMP_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y244- Family:
-
- Belongs to the POMP/UMP1 family.
Function for POMP Gene
Molecular function for POMP Gene
- UniProtKB/Swiss-Prot Function:
- Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.
- UniProtKB/Swiss-Prot Induction:
- By IFNG/IFN-gamma.
Phenotypes From GWAS Catalog for POMP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14733938 |
Phenotypes for POMP Gene
- GenomeRNAi human phenotypes for POMP:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased G1 DNA content
- Increased gamma-H2AX phosphorylation
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- FOXO1 nuclear localization
- Decreased cell number
- Decreased Sindbis virus (SINV) infection
- Inconclusive
- Decreased homologous recombination repair frequency
- HIV Rev nuclear localization
- Downregulation of NFkappaB pathway
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POMP - Select products 50% OFF >
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-
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-
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miRNA for POMP Gene
- miRTarBase miRNAs that target POMP
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for POMP
- Addgene plasmids for POMP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMP
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POMP Gene
Localization for POMP Gene
Subcellular locations from UniProtKB/Swiss-Prot for POMP Gene
- Cytoplasm, cytosol. Nucleus. Microsome membrane.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 4 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for POMP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.79
|
|
Pathways by source for POMP Gene
1 KEGG pathway for POMP Gene
Interacting Proteins for POMP Gene
Selected Interacting proteins:
Q9Y244-POMP_HUMAN
ENSP00000370222
for POMP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for POMP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0043248 | proteasome assembly | IEA,IMP | 17948026 |
No data available for SIGNOR curated interactions for POMP Gene
Transcripts for POMP Gene
mRNA/cDNA for POMP Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380842 1338 nts (view in UCSC)
- ENST00000460403 1428 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POMP - Select products 50% OFF >
- * POMP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POMP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POMP
-
Santa Cruz Biotechnology (SCBT) CRISPR for POMP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POMP
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Clone Products
- Applied Biological Materials (abm): Clones for POMP - Select products 50% OFF >
- * POMP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POMP
- Addgene plasmids for POMP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POMP
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - | ||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||
| SP6: | - |
Relevant External Links for POMP Gene
- GeneLoc Exon Structure for
- POMP
Expression for POMP Gene
This gene is overexpressed in Monocytes (29.1), Fetal ovary (13.9), Pancreas (8.7), and Ovary (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POMP Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POMP
SOURCE GeneReport for Unigene cluster for POMP Gene:
Hs.268742mRNA Expression by UniProt/SwissProt for POMP Gene:
Q9Y244-POMP_HUMAN
Tissue specificity:
Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
Evidence on tissue expression from TISSUES for POMP Gene
- Blood(4.5)
- Heart(4.4)
- Bone marrow(4.4)
- Nervous system(3.8)
- Liver(3)
- Lung(2.9)
- Skin(2.7)
- Spleen(2.4)
- Kidney(2.2)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POMP Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for POMP
-
OriGene qPCR primer pairs and template standards for POMP
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMP Gene
Orthologs for POMP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | POMP 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | POMP 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | POMP 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | POMP 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | LOC100911238 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pomp 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | POMP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | POMP 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | POMP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pomp 30 |
|
||
| Str.7291 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33669 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pomp 30 31 |
|
OneToOne | |
| wufa13f09 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8406 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pomp 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for POMP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- 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 (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for POMP Gene
- ENSEMBL:
- Gene Tree for POMP (if available)
- TreeFam:
- Gene Tree for POMP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POMP: view image
Paralogs for POMP Gene
Pseudogenes.org Pseudogenes for POMP Gene
No data available for Paralogs for POMP Gene
Variants for POMP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POMP Gene
| SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112368783 | Pathogenic: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | 28,659,088(+) | TC/T | ||
| rs1555257069 | Likely Pathogenic: not provided | 28,672,399(+) | G/GA | FRAMESHIFT_VARIANT | |
| rs1555257073 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,406(+) | CTA/C | FRAMESHIFT_VARIANT | |
| rs1555257075 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,411(+) | G/GGATTT | FRAMESHIFT_VARIANT | |
| rs1555257076 | Pathogenic: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | 28,672,416(+) | TGAGGAT/ACC | FRAMESHIFT_VARIANT |
Residual Variation Intolerance Score:
50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.21;
4.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POMP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMP Gene
Disorders for POMP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
|
|
| proteasome-associated autoinflammatory syndrome 2 |
|
|
| keratosis |
|
|
| ichthyosis |
|
|
| nodular episcleritis |
|
|
Search POMP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
POMP_HUMAN- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]: A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. {ECO:0000269 PubMed:20226437}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) [MIM:618048]: An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. {ECO:0000269 PubMed:26524591, ECO:0000269 PubMed:29805043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for POMP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for POMP Gene
Publications for POMP Gene
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4
- Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. (PMID: 29805043) Poli MC … Orange JS (American journal of human genetics 2018) 3 4
- A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. (PMID: 20226437) Dahlqvist J … Dahl N (American journal of human genetics 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum. (PMID: 17948026) Fricke B … Krüger E (EMBO reports 2007) 3 4
ExternalLinks
Products for POMP Gene
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- OriGene qPCR primer pairs for POMP
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for POMP
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- Abcam proteins for POMP
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- Browse Primary Antibodies
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- Addgene plasmids for POMP
- antibodies-online: Show 4 available HSPC014 Antibodies ranked by validation data
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- Quality Products:
- antibodies-online: Show 8 available HSPC014 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for POMP
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- Boster Bio Antibodies for POMP
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- Biorbyt antibodies for POMP
Sources for POMP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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