Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22994
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 131
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP131
Synonyms (NCBI Gene) Gene synonyms aliases	AZ1, AZI1, ZA1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3

Show/Hide all(31)

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

MIM	HGNC	e!Ensembl
613479	29511	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

Family and domains

Sequence

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

Sequence length

1083

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Frontotemporal dementia	Frontotemporal dementia	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092 View all (31 more)	26154020

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Ulcerative colitis	Ulcerative colitis		GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	28361952
Carcinoma Hepatocellular	Associate	36008383
Down Syndrome	Associate	35476505
Glioblastoma	Associate	36291099
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28361952
Microcephaly	Associate	26297806
Neoplasms	Associate	31068247

CEP131 (centrosomal protein 131)