PCM1 Gene (Protein Coding)

Pericentriolar Material 1

GC08P017922
GIFtS:
43
The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary t... See more...

Aliases for PCM1 Gene

Aliases for PCM1 Gene

  • Pericentriolar Material 1 2 3 5
  • Pericentriolar Material 1 Protein 3 4
  • HPCM-1 3 4
  • PCM-1 3 4
  • PTC4 2 3
  • Pericentriolar Material 1, PCM1 3
  • RET/PCM-1 3
  • PCM1 5

External Ids for PCM1 Gene

Previous GeneCards Identifiers for PCM1 Gene

  • GC08P017656
  • GC08P017843
  • GC08P017790
  • GC08P017824
  • GC08P016324
  • GC08P017781

Summaries for PCM1 Gene

Entrez Gene Summary for PCM1 Gene

  • The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for PCM1 Gene

PCM1 (Pericentriolar Material 1) is a Protein Coding gene. Diseases associated with PCM1 include Differentiated Thyroid Carcinoma and Atypical Chronic Myeloid Leukemia. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot Summary for PCM1 Gene

  • Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Involved in the biogenesis of cilia (PubMed:20551181, PubMed:24121310).

Gene Wiki entry for PCM1 Gene

Additional gene information for PCM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCM1 Gene

Genomics for PCM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PCM1 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 PCM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCM1

Top Transcription factor binding sites by QIAGEN in the PCM1 gene promoter:
  • AML1a
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • c-Myb
  • FOXJ2
  • FOXJ2 (long isoform)
  • ITF-2
  • Tal-1beta

Genomic Locations for PCM1 Gene

Latest Assembly
chr8:17,922,784-18,029,948
(GRCh38/hg38)
Size:
107,165 bases
Orientation:
Plus strand

Previous Assembly
chr8:17,780,497-17,887,457
(GRCh37/hg19 by Entrez Gene)
Size:
106,961 bases
Orientation:
Plus strand

chr8:17,780,349-17,885,478
(GRCh37/hg19 by Ensembl)
Size:
105,130 bases
Orientation:
Plus strand

Genomic View for PCM1 Gene

Genes around PCM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PCM1 Gene

Proteins for PCM1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for PCM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15154-PCM1_HUMAN
    Recommended name:
    Pericentriolar material 1 protein
    Protein Accession:
    Q15154
    Secondary Accessions:
    • A6NNN6
    • B4DYD5
    • E7ETA6
    • E7EV56
    • Q58F13
    • Q6P1K7
    • Q8NB85
    • Q9BWC1
    • Q9H4A2

    Protein attributes for PCM1 Gene

    Size:
    2024 amino acids
    Molecular mass:
    228544 Da
    Quaternary structure:
    • Self-associates. Interacts with C2CD3 (By similarity). Interacts with BBS4, BBS8, CETN3, HAP1, NDE1, NDEL1, MAP1LC3B, GABARAPAL2, and GABARAP (PubMed:12403812, PubMed:14520415, PubMed:15107855, PubMed:16291865, PubMed:24089205, PubMed:9361024). Interacts with CEP131; the interaction increases in response to ultraviolet light (UV) radiation (PubMed:24121310). Associates with microtubule; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling (PubMed:24121310). Interacts with CCDC113 (PubMed:25074808). Interacts with SSX2IP (By similarity). Interacts with CCDC13 (PubMed:24816561). Interacts with CEP290 (By similarity). Interacts with PARD6A (PubMed:20719959). Interacts with KIAA0753/OFIP, CEP20/FOR20 and OFD1; the interaction with CEP20/FOR20 and OFD1 may be mediated by KIAA0753/OFIP (PubMed:26643951). Interacts with CCDC66 (PubMed:28235840). Interacts with CCDC61 (PubMed:31789463).
    SequenceCaution:
    • Sequence=AAH27477.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH65022.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC03656.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAC14882.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCM1 Gene

    Alternative splice isoforms for PCM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCM1 Gene

Protein Expression for PCM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PCM1 Gene

  • Ubiquitinated. Undergoes monoubiquitination catalyzed by the E3 ubiquitin-protein ligase MIB1 in proliferating cells, preventing cilia formation (PubMed:24121310). Monoubiquitination by MIB1 is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, resulting in cilia formation initiation (PubMed:24121310).
  • Variant Ser-159 is phosphorylated.
  • Phosphorylated on multiple serine and threonine residues by DYRK3 during the G2-to-M transition, after the nuclear-envelope breakdown (PubMed:29973724). Phosphorylation by DYRK3 promotes disassembly of pericentriolar material (PubMed:29973724).
  • Ubiquitination at Lys51, Lys102, Lys104, Lys139, Lys152, Lys218, Lys229, Lys255, Lys393, Lys399, Lys409, Lys412, Lys658, Lys733, Lys738, Lys762, Lys786, Lys787, Lys807, Lys841, Lys954, Lys970, Lys996, Lys1076, Lys1181, Lys1193, Lys1197, Lys1198, Lys1221, Lys1225, Lys1234, Lys1329, Lys1345, Lys1531, Lys1602, Lys1647, Lys1659, and Lys1701
  • Modification sites at PhosphoSitePlus

Other Protein References for PCM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for PCM1
  • Boster Bio Antibodies for PCM1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCM1

No data available for DME Specific Peptides for PCM1 Gene

Domains & Families for PCM1 Gene

Gene Families for PCM1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PCM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCM1 Gene

GenScript: Design optimal peptide antigens:
  • PCM1 protein (A2RUU9_HUMAN)
  • cDNA FLJ54972, highly similar to Homo sapiens pericentriolar material 1 (PCM1), mRNA (A6NNN6_HUMAN)
  • PCM1 protein (B9EIS5_HUMAN)
  • Pericentriolar material 1, isoform CRA_a (D3DSQ0_HUMAN)
  • Pericentriolar material 1 protein (PCM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15154

UniProtKB/Swiss-Prot:

PCM1_HUMAN :
  • Belongs to the PCM1 family.
Family:
  • Belongs to the PCM1 family.
genes like me logo Genes that share domains with PCM1: view

Function for PCM1 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for PCM1 Gene

UniProtKB/Swiss-Prot Function:
Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Involved in the biogenesis of cilia (PubMed:20551181, PubMed:24121310).
UniProtKB/Swiss-Prot Induction:
Expression is reduced in breast and ovarian cancer.
GENATLAS Biochemistry:
pericentriolar material 1

Phenotypes From GWAS Catalog for PCM1 Gene

Gene Ontology (GO) - Molecular Function for PCM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9361024
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with PCM1: view
genes like me logo Genes that share phenotypes with PCM1: view

Animal Models for PCM1 Gene

MGI Knock Outs for PCM1:
  • Pcm1 Pcm1<tm1Asaw>

Animal Models for research

  • Taconic Biosciences Mouse Models for PCM1

miRNA for PCM1 Gene

miRTarBase miRNAs that target PCM1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCM1 Gene

Localization for PCM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCM1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic granule. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, cilium basal body. Note=Recruitment to the centrosome requires microtubules and dynein. The majority of the protein dissociates from the centrosome during metaphase and subsequently localizes to the cleavage site in telophase. Displaced from centriolar satellites and centrosome in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCM1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material TAS,ISS --
GO:0005737 cytoplasm TAS,ISS --
GO:0005813 centrosome IDA,ISS --
GO:0005814 centriole IEA,IBA 21873635
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with PCM1: view

Pathways & Interactions for PCM1 Gene

genes like me logo Genes that share pathways with PCM1: view

Pathways by source for PCM1 Gene

2 Cell Signaling Technology pathways for PCM1 Gene

SIGNOR curated interactions for PCM1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PCM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0001764 neuron migration IEA --
GO:0007098 centrosome cycle IMP 17574030
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0022027 interkinetic nuclear migration IEA,ISS --
genes like me logo Genes that share ontologies with PCM1: view

Drugs & Compounds for PCM1 Gene

Products:

  1. Drug products for research

(1) Drugs for PCM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PCM1: view

Transcripts for PCM1 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for PCM1 Gene

32 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCM1

Alternative Splicing Database (ASD) splice patterns (SP) for PCM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - - - - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: - - -
SP22:
SP23:

ExUns: 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c · 25d ^ 26a · 26b ^
SP1: - -
SP2: - - - - - - - - - - - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20: -
SP21:
SP22:
SP23:

ExUns: 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43
SP1: - - - -
SP2: - - - - - - - - - - - - - - - - -
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - -
SP21:
SP22:
SP23:

Relevant External Links for PCM1 Gene

GeneLoc Exon Structure for
PCM1

Expression for PCM1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCM1 Gene

mRNA expression in normal human tissues for PCM1 Gene
mRNA expression by GTEx for PCM1 GenemRNA expression by BioGPS for PCM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCM1 Gene

This gene is overexpressed in Plasma (32.6) and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCM1 Gene



Protein tissue co-expression partners for PCM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCM1

SOURCE GeneReport for Unigene cluster for PCM1 Gene:

Hs.491148

mRNA Expression by UniProt/SwissProt for PCM1 Gene:

Q15154-PCM1_HUMAN
Tissue specificity: Expressed in blood, bone marrow, breast, lymph node, ovary and thyroid.

Evidence on tissue expression from TISSUES for PCM1 Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Liver(4.4)
  • Blood(4.4)
  • Muscle(2.9)
  • Heart(2.8)
  • Kidney(2.4)
  • Skin(2.3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCM1 Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
Regions:
Head and neck:
  • neck
  • thyroid
genes like me logo Genes that share expression patterns with PCM1: view

Primer products for research

No data available for mRNA differential expression in normal tissues for PCM1 Gene

Orthologs for PCM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PCM1 30 31
  • 99.52 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 92 (a)
 OneToMany
-- 31
  • 75 (a)
 OneToMany
-- 31
  • 65 (a)
 OneToMany
-- 31
  • 59 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia PCM1 30 31
  • 91.92 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PCM1 30 31
  • 90.15 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pcm1 30 17 31
  • 88.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pcm1 30
  • 88.31 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PCM1 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PCM1 30 31
  • 72.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PCM1 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pcm1 30
  • 67.96 (n)
Str.18845 30
African clawed frog
(Xenopus laevis)
 Amphibia pcm-1 30
Zebrafish
(Danio rerio)
 Actinopterygii pcm1 30 31
  • 59.54 (n)
 OneToOne
Species where no ortholog for PCM1 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PCM1 Gene

ENSEMBL:
Gene Tree for PCM1 (if available)
TreeFam:
Gene Tree for PCM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCM1: view image

Paralogs for PCM1 Gene

No data available for Paralogs for PCM1 Gene

Variants for PCM1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCM1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1085307084 Uncertain Significance: Nonmedullary thyroid carcinoma 1 17,966,078(+) C/T
NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
rs114165932 Benign: not provided 17,957,260(+) C/G
NM_006197.4(PCM1):c.1647-4C>G 		INTRON
rs116620166 Benign: not provided 17,953,081(+) G/A
NM_006197.4(PCM1):c.1183G>A (p.Glu395Lys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs117200617 Benign: not provided 18,011,284(+) G/C
NM_006197.4(PCM1):c.5268G>C (p.Val1756=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs143680240 Likely Benign: not provided 17,969,684(+) A/G
NM_006197.4(PCM1):c.3520A>G (p.Thr1174Ala) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PCM1 Gene

Variant ID Type Subtype PubMed ID
dgv7121n100 CNV gain 25217958
dgv7123n100 CNV gain 25217958
esv2676396 CNV deletion 23128226
esv2736700 CNV deletion 23290073
esv2762735 CNV gain 21179565
esv3543161 CNV deletion 23714750
esv3572605 CNV loss 25503493
esv3616500 CNV gain 21293372
esv3616509 CNV loss 21293372
esv3891365 CNV gain 25118596
nsv1116572 OTHER inversion 24896259
nsv522647 CNV loss 19592680
nsv524215 CNV gain 19592680
nsv610701 CNV gain 21841781

Variation tolerance for PCM1 Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.17; 92.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCM1 Gene

Human Gene Mutation Database (HGMD)
PCM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCM1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCM1 Gene

Disorders for PCM1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PCM1 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
atypical chronic myeloid leukemia
  • acml
bardet-biedl syndrome 4
  • bbs4
myeloid leukemia
  • leukaemia myelogenous
lymphoma
  • lymphoid cancer
- elite association - COSMIC cancer census association via MalaCards
Search PCM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCM1_HUMAN
  • Note=A chromosomal aberration involving PCM1 is found in papillary thyroid carcinomas (PTCs) (PubMed:10980597). Translocation t(8;10)(p21.3;q11.2) with RET links the protein kinase domain of RET to the major portion of PCM1 (PubMed:10980597). {ECO:0000269 PubMed:10980597}.
  • Note=A chromosomal aberration involving PCM1 is found in a variety of hematological malignancies including atypical chronic myeloid leukemia (atypical CML) and T-cell lymphoma (PubMed:15805263, PubMed:16034466, PubMed:16091753, PubMed:16769584, PubMed:16424865). Translocation t(8;9)(p22;p24) with JAK2 links the protein kinase domain of JAK2 to the major portion of PCM1 (PubMed:15805263, PubMed:16034466, PubMed:16091753, PubMed:16769584, PubMed:16424865). {ECO:0000269 PubMed:15805263, ECO:0000269 PubMed:16034466, ECO:0000269 PubMed:16091753, ECO:0000269 PubMed:16424865, ECO:0000269 PubMed:16769584}.

Additional Disease Information for PCM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PCM1: view

No data available for Genatlas for PCM1 Gene

Publications for PCM1 Gene

  1. Dynamic recruitment of Nek2 kinase to the centrosome involves microtubules, PCM-1, and localized proteasomal degradation. (PMID: 15659651) Hames RS … Fry AM (Molecular biology of the cell 2005) 2 3 4 23
  2. PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle distribution. (PMID: 8120099) Balczon R … Zimmer WE (The Journal of cell biology 1994) 2 3 4 23
  3. Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly. (PMID: 16291865) Guo J … Zhu X (Molecular biology of the cell 2006) 3 4 23
  4. Inhibition of centrosome protein assembly leads to p53-dependent exit from the cell cycle. (PMID: 16943179) Srsen V … Merdes A (The Journal of cell biology 2006) 3 4 23
  5. The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene. (PMID: 16091753) Bousquet M … Brousset P (Oncogene 2005) 3 4 23

ExternalLinks

View latest publications for PCM1 gene in Mastermind

Products for PCM1 Gene

Sources for PCM1 Gene