CEP131 (centrosomal protein 131)

Gene

• Entrez ID: 22994
• Gene name: Centrosomal protein 131
• Gene symbol: CEP131
• Synonyms: AZ1, AZI1, ZA1
• Chromosome: 17
• Chromosome location: 17q25.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002177	Component	Manchette	IEA
GO:0005515	Function	Protein binding	IPI	22797915, 24089205, 24407287, 24550735, 24816561, 26297806, 26638075, 27224062
GO:0005813	Component	Centrosome	IDA	21399614, 22797915, 24550735, 27224062
GO:0005813	Component	Centrosome	IDA	14654843
GO:0005829	Component	Cytosol	TAS
GO:0007275	Process	Multicellular organism development	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	22797915
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0010824	Process	Regulation of centrosome duplication	IBA	21873635
GO:0010824	Process	Regulation of centrosome duplication	IMP	22797915
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0034451	Component	Centriolar satellite	IBA	21873635
GO:0034451	Component	Centriolar satellite	IDA	22797915, 24550735, 26297806
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	24550735
GO:0035869	Component	Ciliary transition zone	IDA	24415959
GO:0036064	Component	Ciliary basal body	IDA	27224062
GO:0042803	Function	Protein homodimerization activity	IDA	24550735
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0044877	Function	Protein-containing complex binding	IDA	24550735
GO:0045171	Component	Intercellular bridge	IDA
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0071539	Process	Protein localization to centrosome	IMP	26297806
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	24550735
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS
GO:0120212	Component	Sperm head-tail coupling apparatus	IEA
GO:1905198	Process	Manchette assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990953	Process	Intramanchette transport	IEA

Other IDs

• MIM: 613479
• HGNC: 29511
• e!Ensembl: ENSG00000141577

Protein

• UniProt ID: Q9UPN4
• Protein name: Centrosomal protein of 131 kDa (5-azacytidine-induced protein 1) (Pre-acrosome localization protein 1)
• Protein function: Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its
• Sequence:

  MKGTRAIGSVPERSPAGVDLSLTGLPPPVSRRPGSAATTKPIVRSVSVVTGSEQKRKVLE
  ATGPGGSQAINNLRRSNSTTQVSQPRSGSPRPTEPTDFLMLFEGSPSGKKRPASLSTAPS
  EKGATWNVLDDQPRGFTLPSNARSSSALDSPAGPRRKECTVALAPNFTANNRSNKGAVGN
  CVTTMVHNRYTPSERAPPLKSSNQTAPSLNNIIKAATCEGSESSGFGKLPKNVSSATHSA
  RNNTGGSTGLPRRKEVTEEEAERFIHQVNQATVTIQRWYRHQVQRRGAGAARLEHLLQAK
  REEQRQRSGEGTLLDLHQQKEAARRKAREEKARQARRAAIQELQQKRALRAQKASTAERG
  PPENPRETRVPGMRQPAQELSPTPGGTAHQALKANNTGGGLPAAGPGDRCLPTSDSSPEP
  QQPPEDRTQDVLAQDAAGDNLEMMAPSRGSAKSRGPLEELLHTLQLLEKEPDVLPRPRTH
  HRGRYAWASEVTTEDDASSLTADNLEKFGKLSAFPEPPEDGTLLSEAKLQSIMSFLDEME
  KSGQDQLDSQQEGWVPEAGPGPLELGSEVSTSVMRLKLEVEEKKQAMLLLQRALAQQRDL
  TARRVKETEKALSRQLQRQREHYEATIQRHLAFIDQLIEDKKVLSEKCEAVVAELKQEDQ
  RCTERVAQAQAQHELEIKKLKELMSATEKARREKWISEKTKKIKEVTVRGLEPEIQKLIA
  RHKQEVRRLKSLHEAELLQSDERASQRCLRQAEELREQLEREKEALGQQERERARQRFQQ
  HLEQEQWALQQQRQRLYSEVAEERERLGQQAARQRAELEELRQQLEESSSALTRALRAEF
  EKGREEQERRHQMELNTLKQQLELERQAWEAGRTRKEEAWLLNREQELREEIRKGRDKEI
  ELVIHRLEADMALAKEESEKAAESRIKRLRDKYEAELSELEQSERKLQERCSELKGQLGE
  AEGENLRLQGLVRQKERALEDAQAVNEQLSSERSNLAQVIRQEFEDRLAASEEETRQAKA
  ELATLQARQQLELEEVHRRVKTALARKEEAVSSLRTQHEAAVKRADHLEELLEQHRRPTP
  STK

• Sequence length: 1083

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Frontotemporal dementia	Frontotemporal dementia	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336	26154020

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma		28284560