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This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for vis... See more...
Aliases for MLPH Gene
Aliases for MLPH Gene
External Ids for MLPH Gene
- HGNC: 29643
- Entrez Gene: 79083
- Ensembl: ENSG00000115648
- OMIM: 606526
- UniProtKB: Q9BV36
Previous GeneCards Identifiers for MLPH Gene
- GC02P236433
- GC02P237077
- GC02P238411
- GC02P238682
- GC02P238177
- GC02P238060
- GC02P230187
Summaries for MLPH Gene
-
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
GeneCards Summary for MLPH Gene
MLPH (Melanophilin) is a Protein Coding gene. Diseases associated with MLPH include Griscelli Syndrome, Type 3 and Griscelli Syndrome. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include actin binding and myosin binding. An important paralog of this gene is MYRIP.
UniProtKB/Swiss-Prot Summary for MLPH Gene
-
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Additional gene information for MLPH Gene
- HGNC(29643)
- Entrez Gene(79083)
- Ensembl(ENSG00000115648)
- OMIM(606526)
- UniProtKB(Q9BV36)
- Open Targets Platform(ENSG00000115648)
- Monarch Initiative
- Search for MLPH at DataMed
- Search for MLPH at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLPH Gene
Genomics for MLPH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MLPH 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 MLPH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLPH
- Top Transcription factor binding sites by QIAGEN in the MLPH gene promoter:
-
- c-Myc
- Evi-1
- Max
- Max1
- Pax-5
Genomic Locations for MLPH Gene
Genomic Locations for MLPH Gene
- chr2:237,485,428-237,555,322
- (GRCh38/hg38)
- Size:
- 69,895 bases
- Orientation:
- Plus strand
- chr2:238,394,071-238,463,961
- (GRCh37/hg19)
- Size:
- 69,891 bases
- Orientation:
- Plus strand
Genomic View for MLPH Gene
Genes around MLPH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
MLPH 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 MLPH Gene
Proteins for MLPH Gene
-
Protein details for MLPH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BV36-MELPH_HUMAN
- Recommended name:
- Melanophilin
- Protein Accession:
- Q9BV36
- B3KSS2
- B4DKW7
- G5E9G5
- Q9HA71
Protein attributes for MLPH Gene
- Size:
- 600 amino acids
- Molecular mass:
- 65949 Da
- Quaternary structure:
-
- Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled coil domain.
Protein Expression for MLPH Gene
Post-translational modifications for MLPH Gene
Other Protein References for MLPH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Melanophilin Antibody
-
Custom Antibody ServicesOriGene Antibodies for MLPH
- Novus Biologicals Antibodies for MLPH
-
Abcam antibodies for MLPH
- Invitrogen Antibodies for MLPH (AFLGC-Mlph)
-
Boster Bio Antibodies for MLPH
-
Santa Cruz Biotechnology (SCBT) Antibodies for MLPH
- Sino Biological Antibodies for MLPH
Protein Products
-
OriGene Purified Proteins for MLPH
- Search Origene for MassSpec and Protein Over-expression Lysates for MLPH
- Origene Custom Protein Services for MLPH
- antibodies-online: Show 3 available MLPH Proteins ranked by validation data
- Compare Top MLPH Proteins
-
Quality Products:
-
Signalway Proteins for MLPH
-
Abcam proteins for MLPH
Assay Products
- G Biosciences Immunotag™ Melanophilin ELISA Kit
- antibodies-online: Show 5 available MLPH Elisa Kits ranked by validation data
- Compare Top MLPH Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for MLPH
No data available for DME Specific Peptides for MLPH Gene
Domains & Families for MLPH Gene
Gene Families for MLPH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for MLPH Gene
- InterPro:
- Blocks:
-
- Zn-finger, FYVE type
- ProtoNet:
Suggested Antigen Peptide Sequences for MLPH Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60288, highly similar to Melanophilin (B4DKW7_HUMAN)
- Synaptotagmin-like protein 2a (MELPH_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MLPH Gene
Function for MLPH Gene
Molecular function for MLPH Gene
- UniProtKB/Swiss-Prot Function:
- Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Phenotypes From GWAS Catalog for MLPH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 12446441 |
| GO:0017022 | myosin binding | IPI | 11980908 |
| GO:0017137 | Rab GTPase binding | IPI | 15357836 |
| GO:0030674 | protein binding, bridging | IPI | 11980908 |
Phenotypes for MLPH Gene
- MGI mutant phenotypes for MLPH:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MLPH:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MLPH - Select products 50% OFF >
- * MLPH 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 MLPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MLPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLPH
miRNA for MLPH Gene
- miRTarBase miRNAs that target MLPH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLPH
- Browse OriGene Inhibitory RNA Products For MLPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLPH
Clone Products
- Applied Biological Materials (abm): Clones for MLPH - Select products 50% OFF >
- * MLPH 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 MLPH
- Addgene plasmids for MLPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MLPH
Cell Line Products
-
Horizon Cell Lines for MLPH
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MLPH Gene
Localization for MLPH Gene
Subcellular locations from UniProtKB/Swiss-Prot for MLPH Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytoskeleton | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0030425 | dendrite | IDA | 15357836 |
| GO:0030864 | cortical actin cytoskeleton | IBA | 21873635 |
| GO:0048471 | perinuclear region of cytoplasm | IDA | 15357836 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MLPH Gene
Pathways & Interactions for MLPH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||
Pathways by source for MLPH Gene
1 BioSystems pathway for MLPH Gene
Interacting Proteins for MLPH Gene
Selected Interacting proteins:
Q9BV36-MELPH_HUMAN
ENSP00000264605
for MLPH Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MLPH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0032402 | melanosome transport | NAS | 11980908 |
No data available for SIGNOR curated interactions for MLPH Gene
Transcripts for MLPH Gene
mRNA/cDNA for MLPH Gene
- 4 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264605 3744 nts (view in UCSC)
- ENST00000338530 2332 nts (view in UCSC)
- ENST00000409373 2031 nts (view in UCSC)
- ENST00000410032 2171 nts (view in UCSC)
- ENST00000415753 841 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MLPH - Select products 50% OFF >
- * MLPH 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 MLPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MLPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLPH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLPH
- Browse OriGene Inhibitory RNA Products For MLPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLPH
Clone Products
- Applied Biological Materials (abm): Clones for MLPH - Select products 50% OFF >
- * MLPH 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 MLPH
- Addgene plasmids for MLPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MLPH
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 16a | · | 16b | · | 16c | · | 16d | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | · | 22c | ^ | 23 | ^ | 24a | · | 24b | · | 24c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||
| SP17: | - | - | |||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||||
| SP19: | - | - | |||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||
| SP22: | - |
Relevant External Links for MLPH Gene
- GeneLoc Exon Structure for
- MLPH
Expression for MLPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Lung (Respiratory System)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- NULL (Uncategorized)
- Epithelial Cells (Uncategorized)
- Liver (Hepatobiliary System)
-
Prostate (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for MLPH Gene
This gene is overexpressed in Prostate (x7.2), Minor Salivary Gland (x6.8), and Stomach (x4.7).
This gene is overexpressed in Nasal epithelium (32.0) and Stomach (20.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLPH Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLPH
SOURCE GeneReport for Unigene cluster for MLPH Gene:
Hs.102406Evidence on tissue expression from TISSUES for MLPH Gene
- Skin(4.8)
- Kidney(4.4)
- Nervous system(4.1)
- Lung(2.9)
- Intestine(2.7)
- Stomach(2.1)
- Muscle(2)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MLPH Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- skeleton
Regions:
Head and neck:
- eye
- eyelid
- face
- head
General:
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for MLPH
-
OriGene qPCR primer pairs and template standards for MLPH
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MLPH Gene
Orthologs for MLPH Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MLPH 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MLPH 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MLPH 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mlph 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Mlph 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MLPH 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MLPH 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MLPH 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MLPH 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | LOC557015 30 |
|
||
| mlpha 31 |
|
OneToMany | |||
| mlphb 31 |
|
OneToMany |
- Species where no ortholog for MLPH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for MLPH Gene
- ENSEMBL:
- Gene Tree for MLPH (if available)
- TreeFam:
- Gene Tree for MLPH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MLPH: view image
Paralogs for MLPH Gene
(2) SIMAP similar genes for MLPH Gene using alignment to 12 proteins:
- MELPH_HUMAN
- B4DKW7_HUMAN
- C9JI01_HUMAN
- C9JKV5_HUMAN
- G5E9G5_HUMAN
- H7C052_HUMAN
- H7C190_HUMAN
- H7C2D8_HUMAN
- H7C371_HUMAN
- H7C3K9_HUMAN
- Q53QF3_HUMAN
- Q53QV8_HUMAN
Variants for MLPH Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLPH Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636328 | Pathogenic: Griscelli syndrome type 3 | 237,493,496(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
| 712454 | Likely Benign: not provided | 237,525,736(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 713889 | Benign: not provided | 237,534,614(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 716627 | Benign: not provided | 237,552,371(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 718425 | Likely Benign: not provided | 237,540,530(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.08;
68.93% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MLPH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLPH Gene
Disorders for MLPH Gene
(8) MalaCards diseases for MLPH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| griscelli syndrome, type 3 |
|
|
| griscelli syndrome |
|
|
| piebald trait |
|
|
| griscelli syndrome, type 2 |
|
|
| griscelli syndrome, type 1 |
|
|
Search MLPH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MELPH_HUMAN- Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269 PubMed:12897212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MLPH
- 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 MLPH Gene
Publications for MLPH Gene
- Genome-wide association study identifies new prostate cancer susceptibility loci. (PMID: 21743057) Schumacher FR … Kraft P (Human molecular genetics 2011) 3 41
- In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PMID: 17045265) Wu X … Hammer JA (FEBS letters 2006) 3 23
- High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PMID: 16415175) Park JW … Beaty TH (Journal of medical genetics 2006) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for MLPH Gene
- Custom Antibody ServicesOriGene Antibodies for MLPH
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MLPH
- Search Origene for MassSpec and Protein Over-expression Lysates for MLPH
- Origene Custom Protein Services for MLPH
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLPH
- Browse OriGene Inhibitory RNA Products For MLPH
- OriGene qPCR primer pairs for MLPH
- OriGene qPCR primer pairs and template standards for MLPH
- OriGene CRISPR knockouts for MLPH
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MLPH
- Sino Biological Human cDNA Clone for MLPH
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for MLPH
- Browse Sino Biological Assays
- Browse Antibodies
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- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MLPH
- Novus Biologicals proteins and lysates for MLPH
- Browse Antibodies
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- Browse Lysates
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- Abcam antibodies for MLPH
- Abcam proteins for MLPH
- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for MLPH (AFLGC-Mlph)
- VectorBuilder Custom and pre-made DNA vectors for MLPH (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MLPH (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MLPH (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MLPH CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MLPH
- Addgene plasmids for MLPH
- antibodies-online: Show 22 available MLPH Antibodies ranked by validation data
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- antibodies-online: Show 5 available MLPH Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 3 available MLPH Proteins ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for MLPH
- Search Santa Cruz Biotechnology (SCBT) for MLPH siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MLPH
- Horizon Cell Lines for MLPH
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MLPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MLPH
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MLPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLPH
- Boster Bio Antibodies for MLPH
- Browse Boster Bio ELISA Kits
Sources for MLPH 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
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB