Aliases for MPLKIP Gene
Aliases for MPLKIP Gene
External Ids for MPLKIP Gene
- HGNC: 16002
- Entrez Gene: 136647
- Ensembl: ENSG00000168303
- OMIM: 609188
- UniProtKB: Q8TAP9
Previous HGNC Symbols for MPLKIP Gene
- C7orf11
Summaries for MPLKIP Gene
-
The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
GeneCards Summary for MPLKIP Gene
MPLKIP (M-Phase Specific PLK1 Interacting Protein) is a Protein Coding gene. Diseases associated with MPLKIP include Trichothiodystrophy 4, Nonphotosensitive and Trichothiodystrophy 1, Photosensitive.
UniProtKB/Swiss-Prot for MPLKIP Gene
-
May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.
Additional gene information for MPLKIP Gene
- Monarch Initiative
- Search for MPLKIP at DataMed
- Search for MPLKIP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPLKIP Gene
Genomics for MPLKIP Gene
GeneHancer (GH) Regulatory Elements for MPLKIP Gene
Promoters and enhancers for MPLKIP 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 MPLKIP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MPLKIP Gene
Genomic Locations for MPLKIP Gene
- chr7:40,126,023-40,134,652
- (GRCh38/hg38)
- Size:
- 8,630 bases
- Orientation:
- Minus strand
- chr7:40,165,622-40,174,258
- (GRCh37/hg19)
- Size:
- 8,637 bases
- Orientation:
- Minus strand
Genomic View for MPLKIP Gene
Genes around MPLKIP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.1 by Entrez Gene
- 7p14.1 by HGNC
- 7p14.1 by Ensembl
MPLKIP 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 MPLKIP Gene
Proteins for MPLKIP Gene
-
Protein details for MPLKIP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TAP9-MPLKI_HUMAN
- Recommended name:
- M-phase-specific PLK1-interacting protein
- Protein Accession:
- Q8TAP9
Protein attributes for MPLKIP Gene
- Size:
- 179 amino acids
- Molecular mass:
- 19147 Da
- Quaternary structure:
-
- Interacts with PLK1; phosphorylation-dependent.
Protein Expression for MPLKIP Gene
Post-translational modifications for MPLKIP Gene
- Phosphorylated during mitosis in the cell cycle probably by CDK1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for MPLKIP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MPLKIP
- Novus Biologicals Antibodies for MPLKIP
-
Abcam antibodies for MPLKIP
- Invitrogen Antibodies for MPLKIP (AFLGC-MPLKIP)
- antibodies-online: Search results for 1 available MPLKIP Antibodies ranked by validation data
- Compare Top MPLKIP Antibodies
-
Quality Products:
- Search GeneTex for Antibodies for MPLKIP
-
Boster Bio Antibodies for MPLKIP
-
Santa Cruz Biotechnology (SCBT) Antibodies for MPLKIP
Protein Products
-
OriGene Purified Proteins for MPLKIP
- Search Origene for MassSpec and Protein Over-expression Lysates for MPLKIP
- Origene Custom Protein Services for MPLKIP
- antibodies-online: Search results for 4 available MPLKIP Proteins ranked by validation data
- Compare Top MPLKIP Proteins
-
Quality Products:
- GeneTex Proteins for MPLKIP
-
Abcam proteins for MPLKIP
Assay Products
No data available for DME Specific Peptides for MPLKIP Gene
Domains & Families for MPLKIP Gene
Gene Families for MPLKIP Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for MPLKIP Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MPLKIP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MPLKIP Gene
Function for MPLKIP Gene
Molecular function for MPLKIP Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis.
Phenotypes From GWAS Catalog for MPLKIP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17310276 |
Phenotypes for MPLKIP Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MPLKIP
-
CRISPR Products
-
OriGene CRISPR knockouts for MPLKIP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MPLKIP
- genomics-online: gRNA clones - Search results for available MPLKIP gene related products
- Applied Biological Materials CRISPR for MPLKIP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPLKIP
- GenScript: Design CRISPR guide RNA sequences for MPLKIP
miRNA for MPLKIP Gene
- miRTarBase miRNAs that target MPLKIP
-
- hsa-mir-331-3p (MIRT043354)
- hsa-mir-1273e (MIRT459358)
- hsa-mir-6516-5p (MIRT459359)
- hsa-mir-455-3p (MIRT459360)
- hsa-mir-7847-3p (MIRT459361)
- hsa-mir-6880-5p (MIRT459362)
- hsa-mir-6799-5p (MIRT459363)
- hsa-mir-6851-5p (MIRT459364)
- hsa-mir-3689d (MIRT459365)
- hsa-mir-6499-3p (MIRT459366)
- hsa-mir-298 (MIRT459367)
- hsa-mir-6086 (MIRT459368)
- hsa-mir-377-5p (MIRT459369)
- hsa-mir-6134 (MIRT459370)
- hsa-mir-1827 (MIRT459371)
- hsa-mir-219b-3p (MIRT459372)
- hsa-mir-4649-3p (MIRT459373)
- hsa-mir-1247-3p (MIRT459374)
- hsa-mir-6511a-5p (MIRT459375)
- hsa-mir-1910-3p (MIRT459376)
- hsa-mir-302f (MIRT459377)
- hsa-mir-887-5p (MIRT459378)
- hsa-mir-6780a-5p (MIRT459379)
- hsa-mir-6779-5p (MIRT459380)
- hsa-mir-3689c (MIRT459381)
- hsa-mir-3689b-3p (MIRT459382)
- hsa-mir-3689a-3p (MIRT459383)
- hsa-mir-30b-3p (MIRT459384)
- hsa-mir-1273h-5p (MIRT459385)
- hsa-mir-6788-5p (MIRT459386)
- hsa-mir-30c-2-3p (MIRT459387)
- hsa-mir-30c-1-3p (MIRT459388)
- hsa-mir-203b-3p (MIRT459389)
- hsa-mir-7158-3p (MIRT459390)
- hsa-mir-6883-5p (MIRT459391)
- hsa-mir-6785-5p (MIRT459392)
- hsa-mir-4728-5p (MIRT459393)
- hsa-mir-149-3p (MIRT459394)
- hsa-mir-7106-5p (MIRT459395)
- hsa-mir-650 (MIRT459396)
- hsa-mir-3612 (MIRT459397)
- hsa-mir-4722-5p (MIRT459398)
- hsa-mir-2467-3p (MIRT459399)
- hsa-mir-4768-3p (MIRT459400)
- hsa-mir-940 (MIRT459401)
- hsa-mir-6893-5p (MIRT459402)
- hsa-mir-6808-5p (MIRT459403)
- hsa-mir-3942-3p (MIRT489871)
- hsa-mir-3944-5p (MIRT489872)
- hsa-mir-6887-5p (MIRT489873)
- hsa-mir-6795-5p (MIRT489874)
- hsa-mir-625-5p (MIRT489875)
- hsa-mir-6780b-5p (MIRT489876)
- hsa-mir-4725-3p (MIRT489877)
- hsa-mir-4271 (MIRT489878)
- hsa-mir-7-5p (MIRT489879)
- hsa-mir-107 (MIRT489880)
- hsa-mir-103a-3p (MIRT489881)
- hsa-mir-6770-5p (MIRT489882)
- hsa-mir-1253 (MIRT489883)
- hsa-mir-499b-5p (MIRT489884)
- hsa-mir-4494 (MIRT489885)
- hsa-mir-6513-3p (MIRT489886)
- hsa-mir-4781-5p (MIRT489887)
- hsa-mir-4519 (MIRT489888)
- hsa-mir-519c-3p (MIRT489889)
- hsa-mir-519b-3p (MIRT489890)
- hsa-mir-519a-3p (MIRT489891)
- hsa-mir-665 (MIRT518041)
- hsa-mir-7160-5p (MIRT518042)
- hsa-mir-7151-3p (MIRT530608)
- hsa-mir-5095 (MIRT530609)
- hsa-mir-5589-3p (MIRT530610)
- hsa-mir-6506-5p (MIRT530611)
- hsa-mir-619-5p (MIRT530612)
- hsa-mir-6715b-5p (MIRT530613)
- hsa-mir-4269 (MIRT530614)
- hsa-mir-4438 (MIRT530615)
- hsa-mir-5582-5p (MIRT530616)
- hsa-mir-562 (MIRT530617)
- hsa-mir-4279 (MIRT632725)
- hsa-mir-6778-3p (MIRT632726)
- hsa-mir-1976 (MIRT632727)
- hsa-mir-6747-3p (MIRT632728)
- hsa-mir-6727-3p (MIRT632729)
- hsa-mir-4722-3p (MIRT632730)
- hsa-mir-4661-5p (MIRT632731)
- hsa-mir-3653-5p (MIRT648152)
- hsa-mir-374a-3p (MIRT648153)
- hsa-mir-4729 (MIRT648154)
- hsa-mir-2115-3p (MIRT648155)
- hsa-mir-34c-3p (MIRT648156)
- hsa-mir-5698 (MIRT667352)
- hsa-mir-4764-3p (MIRT667353)
- hsa-mir-143-5p (MIRT667354)
- hsa-mir-4430 (MIRT667355)
- hsa-mir-3652 (MIRT667356)
- hsa-mir-566 (MIRT667357)
- hsa-mir-6789-3p (MIRT667358)
- hsa-mir-122-5p (MIRT667359)
- hsa-mir-504-3p (MIRT667360)
- hsa-mir-3135b (MIRT667361)
- hsa-mir-5693 (MIRT667362)
- hsa-mir-3680-5p (MIRT667363)
- hsa-mir-6750-3p (MIRT667364)
- hsa-mir-921 (MIRT701872)
- hsa-mir-1227-3p (MIRT701873)
- hsa-mir-142-3p (MIRT701874)
- hsa-mir-6073 (MIRT701875)
- hsa-mir-4252 (MIRT701876)
- hsa-mir-558 (MIRT701877)
- hsa-mir-4487 (MIRT701878)
- hsa-mir-3160-3p (MIRT701879)
- hsa-mir-1273g-3p (MIRT701880)
- hsa-mir-4257 (MIRT701881)
- hsa-mir-3174 (MIRT701882)
- hsa-mir-129-5p (MIRT723764)
- hsa-mir-8055 (MIRT723765)
- hsa-mir-3607-3p (MIRT723766)
- hsa-mir-4282 (MIRT723767)
- hsa-mir-548c-3p (MIRT723768)
- hsa-mir-3202 (MIRT741154)
- hsa-mir-4475 (MIRT745020)
- hsa-mir-4747-5p (MIRT748252)
- hsa-mir-5196-5p (MIRT750036)
- hsa-mir-7515 (MIRT759386)
- hsa-mir-9500 (MIRT760892)
- hsa-mir-33a-3p (MIRT765689)
- hsa-mir-409-3p (MIRT767916)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MPLKIP
- Browse OriGene Inhibitory RNA Products For MPLKIP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPLKIP
- genomics-online: shRNA clones - Search results for available MPLKIP gene related products
Clone Products
- Sino Biological Human cDNA Clone for MPLKIP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MPLKIP
- genomics-online: cdna clones - Search results for available MPLKIP gene related products
- orf clones - Search results for available MPLKIP gene related products
- Applied Biological Materials Clones for MPLKIP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MPLKIP
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MPLKIP Gene
Localization for MPLKIP Gene
Subcellular locations from UniProtKB/Swiss-Prot for MPLKIP Gene
- Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=The subcellular location is regulated during cell cycle. During interphase located in the nucleus. During mitosis located at the centrosome and dispersed in the cytoplasm. During telophase located in the midbody. Colocalizes with PLK1 at the centrosome in M phase.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Golgi apparatus (3)
- Nucleoplasm (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 17310276 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 17310276 |
| GO:0005794 | Golgi apparatus | IDA | -- |
| GO:0005813 | centrosome | IDA | 17310276 |
Pathways & Interactions for MPLKIP Gene
No Data Available
Interacting Proteins for MPLKIP Gene
GPS-Prot Interaction Network for MPLKIP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0051301 | cell division | IEA | -- |
No data available for Pathways by source for MPLKIP Gene
Transcripts for MPLKIP Gene
mRNA/cDNA for MPLKIP Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (133) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000306984 7661 bps (uc003thl.5)
- ENST00000645701 941 bps
Unigene Clusters for MPLKIP Gene
- M-phase specific PLK1 interacting protein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MPLKIP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MPLKIP
- genomics-online: gRNA clones - Search results for available MPLKIP gene related products
- Applied Biological Materials CRISPR for MPLKIP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MPLKIP
- GenScript: Design CRISPR guide RNA sequences for MPLKIP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MPLKIP
- Browse OriGene Inhibitory RNA Products For MPLKIP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPLKIP
- genomics-online: shRNA clones - Search results for available MPLKIP gene related products
Clone Products
- Sino Biological Human cDNA Clone for MPLKIP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MPLKIP
- genomics-online: cdna clones - Search results for available MPLKIP gene related products
- orf clones - Search results for available MPLKIP gene related products
- Applied Biological Materials Clones for MPLKIP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | - |
Expression for MPLKIP Gene
This gene is overexpressed in CD8 Tcells (23.4), Peripheral blood mononuclear cells (17.0), and NK cells (13.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPLKIP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MPLKIP Gene:
MPLKIPSOURCE GeneReport for Unigene cluster for MPLKIP Gene:
Hs.654989mRNA Expression by UniProt/SwissProt for MPLKIP Gene:
Q8TAP9-MPLKI_HUMAN
Tissue specificity:
Expressed at highest levels in liver and kidney; intermediate expression in skeletal muscle, pancreas, heart and placenta; low expression in brain and lung. Expressed in epidermis and hair follicles.
Phenotype-based relationships between genes and organs from Gene ORGANizer for MPLKIP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- ear
- eye
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- outer ear
- pituitary gland
- skull
- tooth
Thorax:
- breast
- bronchus
- chest wall
- lung
Abdomen:
- intestine
- large intestine
- small intestine
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- nail
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for MPLKIP
-
OriGene qPCR primer pairs and template standards for MPLKIP
- genomics-online: primer clones - Search results for available MPLKIP gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for MPLKIP Gene
Orthologs for MPLKIP Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MPLKIP 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mplkip 33 |
|
||
| dog (Canis familiaris) |
Mammalia | MPLKIP 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Mplkip 16 34 33 |
|
||
| Gm7102 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | C4H7ORF11 34 |
|
OneToOne | |
| MPLKIP 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | MPLKIP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C7ORF11 33 |
|
||
| MPLKIP 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | MPLKIP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mplkip 33 |
|
||
| MGC76001 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.29095 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mplkip 34 |
|
OneToOne |
- Species where no ortholog for MPLKIP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for MPLKIP Gene
- ENSEMBL:
- Gene Tree for MPLKIP (if available)
- TreeFam:
- Gene Tree for MPLKIP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MPLKIP: view image
Paralogs for MPLKIP Gene
(1) SIMAP similar genes for MPLKIP Gene using alignment to 1 proteins:
- MPLKI_HUMAN
No data available for Paralogs for MPLKIP Gene
Variants for MPLKIP Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs137853117 | pathogenic, Trichothiodystrophy, nonphotosensitive 1, Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050] | 40,133,169(-) | T/C | coding_sequence_variant, missense_variant | |
| rs565833937 | A breast cancer sample | 40,134,482(-) | C/T | coding_sequence_variant, missense_variant | |
| rs587776531 | pathogenic, Trichothiodystrophy, nonphotosensitive 1 | 40,134,430(-) | CCC/C | coding_sequence_variant, frameshift | |
| rs587776532 | pathogenic, Trichothiodystrophy, nonphotosensitive 1 | 40,134,291(-) | A/ | coding_sequence_variant, frameshift | |
| rs768342562 | pathogenic, Trichothiodystrophy 1, photosensitive | 40,133,094(-) | TTT/TTTT | coding_sequence_variant, frameshift |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759525 | CNV | gain | 17122850 |
| esv34547 | CNV | gain | 17911159 |
| esv3612920 | CNV | gain | 21293372 |
| nsv1024735 | CNV | gain | 25217958 |
| nsv1032278 | CNV | gain | 25217958 |
| nsv464437 | CNV | gain | 19166990 |
| nsv606709 | CNV | gain | 21841781 |
| nsv824080 | CNV | gain | 20364138 |
| nsv971193 | CNV | duplication | 23825009 |
Gene Damage Index Score:
0.56;
12.02% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MPLKIP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPLKIP Gene
Disorders for MPLKIP Gene
(4) MalaCards diseases for MPLKIP Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| trichothiodystrophy 4, nonphotosensitive |
|
|
| trichothiodystrophy 1, photosensitive |
|
|
| nonphotosensitive trichothiodystrophy |
|
|
| autosomal recessive disease |
|
|
Search MPLKIP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MPLKI_HUMAN- Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. {ECO:0000269 PubMed:15645389}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MPLKIP
No data available for Genatlas for MPLKIP Gene
Publications for MPLKIP Gene
- Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (PMID: 15645389) Nakabayashi K … Scherer SW (American journal of human genetics 2005) 3 4 22 58
- Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (PMID: 11829489) Nakabayashi K … Scherer SW (Genomics 2002) 2 3 4 58
- TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. (PMID: 17310276) Zhang Y … Shu HB (Cellular and molecular life sciences : CMLS 2007) 3 4 58
- Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (PMID: 16977596) Botta E … Stefanini M (Human mutation 2007) 3 22 58
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
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