• Gene id: 5108

Gene Summary

• Gene Symbol: PCM1   Gene   UCSC   Ensembl
• Aliases: PTC4, RET/PCM-1
• Gene name: pericentriolar material 1
• Alternate names: pericentriolar material 1 protein, PCM-1, hPCM-1, pericentriolar material 1, PCM1,
• Gene location: 8p22 (17922783: 18029947)     Exons: 46     NC_000008.11
• Gene summary(Entrez): 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,
• OMIM: 600299

SNPs

rs222859

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7294475C>A
NC_000017.10   g.7197794C>A
NM_015982.4   c.26G>T
NM_015982.3   c.26G>T
XM_017024713.2   c.26G>T
NP_057066.2   p.Gly9Val
XP_016880202.1   p.Gly9Val|SEQ=[C/A]|GENE=YBX2

Protein Summary

• Protein general information: Q15154  
  • Name: Pericentriolar material 1 protein (PCM 1) (hPCM 1)
  • Length: 2024  
  • Mass: 228544
  • Tissue specificity: Expressed in blood, bone marrow, breast, lymph node, ovary and thyroid. {ECO
• Sequence:

  MATGGGPFEDGMNDQDLPNWSNENVDDRLNNMDWGAQQKKANRSSEKNKKKFGVESDKRVTNDISPESSPGVGRR
  RTKTPHTFPHSRYMSQMSVPEQAELEKLKQRINFSDLDQRSIGSDSQGRATAANNKRQLSENRKPFNFLPMQINT
  NKSKDASTNPPNRETIGSAQCKELFASALSNDLLQNCQVSEEDGRGEPAMESSQIVSRLVQIRDYITKASSMRED
  LVEKNERSANVERLTHLIDHLKEQEKSYMKFLKKILARDPQQEPMEEIENLKKQHDLLKRMLQQQEQLRALQGRQ
  AALLALQHKAEQAIAVMDDSVVAETAGSLSGVSITSELNEELNDLIQRFHNQLRDSQPPAVPDNRRQAESLSLTR
  EVSQSRKPSASERLPDEKVELFSKMRVLQEKKQKMDKLLGELHTLRDQHLNNSSASPQRSVDQRSTSAPSASVGL
  APVVNGESNSLTSSVPYPTASLVSQNESENEGHLNPSEKLQKLNEVRKRLNELRELVHYYEQTSDMMTDAVNENR
  KDEETEESEYDSEHENSEPVTNIRNPQVASTWNEVNSHSNAQCVSNNRDGRTVNSNCEINNRSAANIRALNMPPS
  LDCRYNREGEQEIHVAQGEDDEEEEEEAEEEGVSGASLSSHRSSLVDEHPEDAEFEQKINRLMAAKQKLRQLQDL
  VAMVQDDDAAQGVISASASNLDDFYPAEEDTKQNSNNTRGNANKTQKDTGVNEKAREKFYEAKLQQQQRELKQLQ
  EERKKLIDIQEKIQALQTACPDLQLSAASVGNCPTKKYMPAVTSTPTVNQHETSTSKSVFEPEDSSIVDNELWSE
  MRRHEMLREELRQRRKQLEALMAEHQRRQGLAETASPVAVSLRSDGSENLCTPQQSRTEKTMATWGGSTQCALDE
  EGDEDGYLSEGIVRTDEEEEEEQDASSNDNFSVCPSNSVNHNSYNGKETKNRWKNNCPFSADENYRPLAKTRQQN
  ISMQRQENLRWVSELSYVEEKEQWQEQINQLKKQLDFSVSICQTLMQDQQTLSCLLQTLLTGPYSVMPSNVASPQ
  VHFIMHQLNQCYTQLTWQQNNVQRLKQMLNELMRQQNQHPEKPGGKERGSSASHPPSPSLFCPFSFPTQPVNLFN
  IPGFTNFSSFAPGMNFSPLFPSNFGDFSQNISTPSEQQQPLAQNSSGKTEYMAFPKPFESSSSIGAEKPRNKKLP
  EEEVESSRTPWLYEQEGEVEKPFIKTGFSVSVEKSTSSNRKNQLDTNGRRRQFDEESLESFSSMPDPVDPTTVTK
  TFKTRKASAQASLASKDKTPKSKSKKRNSTQLKSRVKNIRYESASMSSTCEPCKSRNRHSAQTEEPVQAKVFSRK
  NHEQLEKIIKCNRSTEISSETGSDFSMFEALRDTIYSEVATLISQNESRPHFLIELFHELQLLNTDYLRQRALYA
  LQDIVSRHISESHEKGENVKSVNSGTWIASNSELTPSESLATTDDETFEKNFERETHKISEQNDADNASVLSVSS
  NFEPFATDDLGNTVIHLDQALARMREYERMKTEAESNSNMRCTCRIIEDGDGAGAGTTVNNLEETPVIENRSSQQ
  PVSEVSTIPCPRIDTQQLDRQIKAIMKEVIPFLKEHMDEVCSSQLLTSVRRMVLTLTQQNDESKEFVKFFHKQLG
  SILQDSLAKFAGRKLKDCGEDLLVEISEVLFNELAFFKLMQDLDNNSITVKQRCKRKIEATGVIQSCAKEAKRIL
  EDHGSPAGEIDDEDKDKDETETVKQTQTSEVYDGPKNVRSDISDQEEDEESEGCPVSINLSKAETQALTNYGSGE
  DENEDEEMEEFEEGPVDVQTSLQANTEATEENEHDEQVLQRDFKKTAESKNVPLEREATSKNDQNNCPVKPCYLN
  ILEDEQPLNSAAHKESPPTVDSTQQPNPLPLRLPEMEPLVPRVKEVKSAQETPESSLAGSPDTESPVLVNDYEAE
  SGNISQKSDEEDFVKVEDLPLKLTIYSEADLRKKMVEEEQKNHLSGEICEMQTEELAGNSETLKEPETVGAQSI

• Structural information:
  • Interpro: IPR031446  IPR024138  
  • PDB: 6HYL 6HYM
  • PDBsum: 6HYL 6HYM
  • DIP: 42189
  • STRING: ENSP00000327077
• Other Databases: GeneCards:  PCM1  Malacards:  PCM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0005813	centrosome	IDA	colocalizes with
GO:0071539	protein localization to centrosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IBA	cellular component
GO:0007098	centrosome cycle	IBA	biological process
GO:0034451	centriolar satellite	IBA	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	IBA	biological process
GO:0071539	protein localization to centrosome	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0034454	microtubule anchoring at centrosome	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0090316	positive regulation of intracellular protein transport	IMP	biological process
GO:0090316	positive regulation of intracellular protein transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0035735	intraciliary transport involved in cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0034454	microtubule anchoring at centrosome	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0071539	protein localization to centrosome	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0000242	pericentriolar material	TAS	cellular component
GO:0005813	centrosome	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035176	social behavior	IEA	biological process
GO:0034454	microtubule anchoring at centrosome	IEA	biological process
GO:0034453	microtubule anchoring	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0000242	pericentriolar material	IEA	cellular component
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0071539	protein localization to centrosome	IEA	biological process
GO:0034451	centriolar satellite	IEA	cellular component
GO:0033365	protein localization to organelle	IEA	biological process
GO:0022027	interkinetic nuclear migration	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0097730	non-motile cilium	IDA	NOT|cellular component
GO:0000242	pericentriolar material	ISS	cellular component
GO:0005813	centrosome	ISS	cellular component
GO:0034453	microtubule anchoring	ISS	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0022027	interkinetic nuclear migration	ISS	biological process
GO:0007098	centrosome cycle	IMP	biological process
GO:0071539	protein localization to centrosome	ISS	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray