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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55835
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosome assembly and centriole elongation protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CPAP
Synonyms (NCBI Gene) Gene synonyms aliases	BM032, CENP-J, CENPJ, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.12-q12.13

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138228629	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs143258862	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143260721	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs199422202	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs199422203	ACTG>-	Pathogenic	Genic downstream transcript variant, intron variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs200213585	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs201088712	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201111299	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs201822162	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs202058504	G>C	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs374057641	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs749343808	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs759188041	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs765113367	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs769916634	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs777893196	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs786205481	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045447	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045448	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045449	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045450	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045452	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797045454	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886041674	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043932	AACT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794036	CTCT>-,CT	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1555297827	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555299107	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1566295297	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000829	hsa-miR-15a-5p	Microarray	18362358
MIRT000828	hsa-miR-16-5p	Microarray	18362358
MIRT016265	hsa-miR-193b-3p	Microarray	20304954
MIRT721865	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721864	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721863	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT721862	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT721861	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT721860	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721859	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT721858	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721857	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721856	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721855	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721865	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721864	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721863	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT721862	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT721861	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT721860	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721859	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT721858	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721857	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721856	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721855	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT884948	hsa-miR-1263	CLIP-seq
MIRT884949	hsa-miR-4637	CLIP-seq
MIRT884950	hsa-miR-4724-5p	CLIP-seq
MIRT884951	hsa-miR-4735-5p	CLIP-seq
MIRT884952	hsa-miR-4775	CLIP-seq
MIRT884953	hsa-miR-590-3p	CLIP-seq
MIRT884954	hsa-miR-601	CLIP-seq
MIRT1962456	hsa-miR-486-5p	CLIP-seq
MIRT2198848	hsa-miR-1825	CLIP-seq
MIRT2198849	hsa-miR-199a-5p	CLIP-seq
MIRT2198850	hsa-miR-199b-5p	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IDA	12198240
GO:0005515	Function	Protein binding	IPI	11003675, 16516142, 16713569, 20531387, 20852615, 20936779, 22020124, 22699936, 23511974, 24076405, 25385835, 26638075, 32296183, 35271311
GO:0005737	Component	Cytoplasm	IDA	12198240, 22020124
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	11003675, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	17681131, 20531387, 22020124
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	TAS	11003675
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	IMP	17681131, 22020124
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008275	Component	Gamma-tubulin small complex	NAS	11003675
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IDA	15047868
GO:0019901	Function	Protein kinase binding	IPI	20531387
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030954	Process	Astral microtubule nucleation	IDA	11003675
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	24076405
GO:0043015	Function	Gamma-tubulin binding	IDA	11003675
GO:0044458	Process	Motile cilium assembly	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	12198240
GO:0046599	Process	Regulation of centriole replication	IMP	20531387
GO:0046601	Process	Positive regulation of centriole replication	IDA	22020124
GO:0046785	Process	Microtubule polymerization	IMP	15047868
GO:0051298	Process	Centrosome duplication	IEA
GO:0051301	Process	Cell division	NAS	11003675
GO:0060236	Process	Regulation of mitotic spindle organization	NAS	17576815
GO:0060271	Process	Cilium assembly	IBA
GO:0061511	Process	Centriole elongation	IBA
GO:0061511	Process	Centriole elongation	IDA	22020124
GO:0098534	Process	Centriole assembly	IEA
GO:0120099	Component	Procentriole replication complex	IPI	22020124
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	22020124
GO:1902117	Process	Positive regulation of organelle assembly	IEA
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA
GO:1903724	Process	Positive regulation of centriole elongation	IMP	27185865
GO:1904951	Process	Positive regulation of establishment of protein localization	IMP	27185865
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905832	Process	Positive regulation of spindle assembly	NAS	17576815

MIM	HGNC	e!Ensembl
609279	17272	ENSG00000151849

Protein

UniProt ID

Q9HC77

Protein name

Centrosomal P4.1-associated protein (Centromere protein J) (CENP-J) (Centrosome assembly and centriole elongation protein) (LAG-3-associated protein) (LYST-interacting protein 1)

Protein function

Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive gro

PDB

5EIB , 5ITZ , 7Q1E , 7Q1F , 7Z0F , 7Z0G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07202	Tcp10_C	1148 → 1181	T-complex protein 10 C-terminus	Repeat
PF07202	Tcp10_C	1221 → 1253	T-complex protein 10 C-terminus	Repeat
PF07202	Tcp10_C	1257 → 1291	T-complex protein 10 C-terminus	Repeat
PF07202	Tcp10_C	1293 → 1326	T-complex protein 10 C-terminus	Repeat

Sequence

MFLMPTSSELNSGQNFLTQWMTNPSRAGVILNRGFPILEADKEKRAAVDISTSFPIKGTH
FSDSFSFINEEDSLLEEQKLESNNPYKPQSDKSETHTAFPCIKKGPQVAACHSAPGHQEE
NKNDFIPDLASEFKEGAYKDPLFKKLEQLKEVQQKKQEQLKRQQLEQLQRLMEEQEKLLT
MVSGQCTLPGLSLLPDDQSQKHRSPGNTTTGERATCCFPSYVYPDPTQEETYPSNILSHE
QSNFCRTAHGDFVLTSKRASPNLFSEAQYQEAPVEKNNLKEENRNHPTGESILCWEKVTE
QIQEANDKNLQKHDDSSEVANIEERPIKAAIGERKQTFEDYLEEQIQLEEQELKQKQLKE
AEGPLPIKAKPKQPFLKRGEGLARFTNAKSKFQKGKESKLVTNQSTSEDQPLFKMDRQQL
QRKTALKNKELCADNPILKKDSKARTKSGSVTLSQKPKMLKCSNRKSLSPSGLKIQTGKK
CDGQFRDQIKFENKVTSNNKENVTECPKPCDTGCTGWNKTQGKDRLPLSTGPASRLAAKS
PIRETMKESESSLDVSLQKKLETWEREKEKENLELDEFLFLEQAADEISFSSNSSFVLKI
LERDQQICKGHRMSSTPVKAVPQKTNPADPISHCNRSEDLDHTAREKESECEVAPKQLHS
LSSADELREQPCKIRKAVQKSTSENQTEWNARDDEGVPNSDSSTDSEEQLDVTIKPSTED
RERGISSREDSPQVCDDKGPFKDTRTQEDKRRDVDLDLSDKDYSSDESIMESIKHKVSEP
SRSSSLSLSKMDFDDERTWTDLEENLCNHDVVLGNESTYGTPQTCYPNNEIGILDKTIKR
KIAPVKRGEDLSKSRRSRSPPTSELMMKFFPSLKPKPKSDSHLGNELKLNISQDQPPGDN
ARSQVLREKIIELETEIEKFKAENASLAKLRIERESALEKLRKEIADFEQQKAKELARIE
EFKKEEMRKLQKERKVFEKYTTAARTFPDKKEREEIQTLKQQIADLREDLKRKETKWSST
HSRLRSQIQMLVRENTDLREEIKVMERFRLDAWKRAEAIESSLEVEKKDKLANTSVRFQN
SQISSGTQVEKYKKNYLPMQGNPPRRSKSAPPRDLGNLDKGQAASPREPLEPLNFPDPEY
KEEEEDQDIQGEISHPDGKVEKVYKNGCRVILFPNGTRKEVSADGKTITVTFFNGDVKQV
MPDQRVIYYYAAAQTTHTTYPEGLEVLHFSSGQIEKHYPDGRKEITFPDQTVKNLFPDGQ
EESIFPDGTIVRVQRDGNKLIEFNNGQRELHTAQFKRREYPDGTVKTVYANGHQETKYRS
GRIRVKDKEGNVLMDTEL

Sequence length

1338

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 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain AURKA Activation by TPX2

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephaly	Microcephaly 6, primary, autosomal recessive, Microcephaly 1, primary, autosomal recessive, autosomal recessive primary microcephaly	rs864321658, rs138228629, rs587783410, rs759188041, rs202058504, rs763715733, rs1555294652, rs199422202, rs1555299107, rs765113367, rs121434311, rs199422203, rs797045454	N/A
Seckel Syndrome	seckel syndrome 5, seckel syndrome 4	rs1060499557, rs797045452, rs797045450, rs1131691823, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs864321658	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Meniere Disease	meniere disease	N/A	N/A	ClinVar

CPAP (centrosome assembly and centriole elongation protein)