PCM1 - pericentriolar material 1 Gene

Homo sapiens

Also known as PTC4; RET/PCM-1

Gene ID: 5108 | Gene type: protein coding

About PCM1

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,922,988-18,029,948 (from NCBI)

This gene has 22 transcripts (splice variants), 212 orthologues and is associated with 93 phenotypes. Broad expression in testis (RPKM 47.5), thyroid (RPKM 18.5) and 25 other tissues.

Summary

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]

PCM1 Products(32)

mRNA	Protein	Name
NM_001315507.2	NP_001302436.2	pericentriolar material 1 protein isoform 2
NM_001315508.2	NP_001302437.2	pericentriolar material 1 protein isoform 3
NM_001352632.2	NP_001339561.2	pericentriolar material 1 protein isoform 4
NM_001352633.2	NP_001339562.2	pericentriolar material 1 protein isoform 5
NM_001352634.2	NP_001339563.2	pericentriolar material 1 protein isoform 6
NM_001352635.2	NP_001339564.2	pericentriolar material 1 protein isoform 7
NM_001352636.2	NP_001339565.2	pericentriolar material 1 protein isoform 8
NM_001352637.2	NP_001339566.2	pericentriolar material 1 protein isoform 9
NM_001352638.2	NP_001339567.2	pericentriolar material 1 protein isoform 10
NM_001352639.2	NP_001339568.2	pericentriolar material 1 protein isoform 11
NM_001352640.2	NP_001339569.2	pericentriolar material 1 protein isoform 12
NM_001352641.2	NP_001339570.2	pericentriolar material 1 protein isoform 13
NM_001352642.2	NP_001339571.2	pericentriolar material 1 protein isoform 14
NM_001352643.2	NP_001339572.2	pericentriolar material 1 protein isoform 15
NM_001352644.2	NP_001339573.2	pericentriolar material 1 protein isoform 16
NM_001352645.2	NP_001339574.2	pericentriolar material 1 protein isoform 16
NM_001352646.2	NP_001339575.2	pericentriolar material 1 protein isoform 17
NM_001352647.2	NP_001339576.2	pericentriolar material 1 protein isoform 17
NM_001352648.2	NP_001339577.2	pericentriolar material 1 protein isoform 18
NM_001352649.2	NP_001339578.2	pericentriolar material 1 protein isoform 18
NM_001352650.2	NP_001339579.2	pericentriolar material 1 protein isoform 19
NM_001352651.2	NP_001339580.2	pericentriolar material 1 protein isoform 19
NM_001352652.2	NP_001339581.2	pericentriolar material 1 protein isoform 1
NM_001352653.2	NP_001339582.2	pericentriolar material 1 protein isoform 1
NM_001352654.2	NP_001339583.2	pericentriolar material 1 protein isoform 21
NM_001352655.2	NP_001339584.2	pericentriolar material 1 protein isoform 21
NM_001352656.2	NP_001339585.2	pericentriolar material 1 protein isoform 21
NM_001352657.2	NP_001339586.2	pericentriolar material 1 protein isoform 22
NM_001352658.2	NP_001339587.2	pericentriolar material 1 protein isoform 22
NM_001352659.2	NP_001339588.2	pericentriolar material 1 protein isoform 23
NM_001352660.2	NP_001339589.2	pericentriolar material 1 protein isoform 23
NM_006197.4	NP_006188.4	pericentriolar material 1 protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	34782749	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9361024	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in centrosome cycle	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	15616553	GOA
acts upstream of or within cytoplasmic microtubule organization	IMP IMP: Inferred from mutant phenotype	24816561	GOA
involved in cytoplasmic microtubule organization	IMP IMP: Inferred from mutant phenotype	22797915	GOA
involved in intraciliary transport involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	24550735	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	23789104	GOA
involved in positive regulation of intracellular protein transport	IMP IMP: Inferred from mutant phenotype	22797915	GOA
acts upstream of or within protein localization to centrosome	IMP IMP: Inferred from mutant phenotype	24816561	GOA
involved in protein-containing complex localization to centriolar satellite	IDA IDA: Inferred from direct assay	34782749	GOA
involved in regulation of protein complex stability	IDA IDA: Inferred from direct assay	34782749	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in centriolar satellite	IDA IDA: Inferred from direct assay	34782749	GOA
located in centriolar satellite	IDA IDA: Inferred from direct assay	15616553	GOA
colocalizes with centrosome	IDA IDA: Inferred from direct assay	24648492	GOA
located in centrosome	IDA IDA: Inferred from direct assay	20719959	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	24415959	GOA
NOT located in non-motile cilium	IDA IDA: Inferred from direct assay	17574030	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24421332	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

pericentriolar material 1 protein

PCM-1

Related Diseases

Diseases

Alias

Differentiated Thyroid Carcinoma

Papillary Or Follicular Thyroid Carcinoma	Well-Differentiated Thyroid Carcinoma
Differentiated Thyroid Gland Carcinoma

Bardet-Biedl Syndrome 4

BBS4	Bardet-Biedl Syndrome, Type 4

Myeloid Leukemia

Myeloid Leukaemia	Leukaemia Myelogenous
Leukemia Myelogenous	Myeloid Granulocytic Leukaemia
Myeloid Granulocytic Leukemia	Non-Lymphocytic Leukemia
Leukemia, Myeloid	Granulocytic Leukaemia
Myelogenous Leukaemia	Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Lymphoma

Lymphoid Cancer	Lymphomas
Lymphoid Cancers	Lymphoid Neoplasm
Lymphoma Nos	Nhl - [Non-Hodgkin Lymphoma]
Non-Hodgkin Lymphoma	Non-Hodgkin Lymphoma, Nos
Non-Hodgkin Malignant Lymphoma Nos

Neurosyphilis

Syphilis Of Central Nervous System	Late Syphilis Of Central Nervous System Nos
Late Syphilis Of The Central Nervous System	Gumma Of Central Nervous System
Neurosyphilis Gumma	Neurosyphilitic Gumma
Syphilis Of Central Nervous System Nos	Syphilitic Gumma Of Central Nervous System
Tertiary Central Nervous System Syphilis

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10156	PCM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PCM1	VGNC	VGNC:78544
Mus musculus	PCM1	MGD	MGI:1277958
Rattus norvegicus	PCM1	RGD	RGD:620901
Macaca mulatta	PCM1	VGNC	VGNC:75781
Canis familiaris	PCM1	VGNC	VGNC:44309
Bos taurus	PCM1	VGNC	VGNC:32634

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