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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55835
Gene name	Centrosome assembly and centriole elongation protein
Gene symbol	CPAP
Synonyms (NCBI Gene)	BM032CENP-JCENPJLAPLIP1MCPH6SASS4SCKL4Sas-4
Chromosome	13
Chromosome location	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

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

412

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs797045454	RCV000825515
CENPJ-related disorder	Likely pathogenic	rs2541687655	RCV004528002
Lissencephaly	Likely pathogenic; Pathogenic	rs199422203	RCV001391259
Lissencephaly type 3	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049
Microcephaly	Likely pathogenic; Pathogenic	rs199422203	RCV001391259
Microcephaly 1, primary, autosomal recessive	Pathogenic	rs199422202	RCV000856752
Microcephaly 6, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs761856922, rs1053431940, rs2138660627, rs199422202, rs121434311, rs199422203, rs587783410, rs202058504, rs1283083598, rs797045450, rs747993775, rs201822162, rs138228629, rs759188041, rs864321658 View all (7 more)	RCV001335002 RCV002221981 RCV002227861 RCV000001890 RCV000001891 RCV000001892 RCV000145577 RCV000145556 RCV004819246 RCV002485285 RCV003123512 RCV002487179 RCV002265719 RCV003137874 RCV003987328 RCV000477911 RCV000762911 RCV000678241 RCV000678242 RCV005429258 RCV002227494 RCV001255765
Moderate intellectual disability	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049
Perisylvian polymicrogyria	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049
Primary microcephaly	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049
Seckel syndrome 4	Pathogenic; Likely pathogenic	rs1954548327, rs202058504, rs1283083598, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs201822162, rs864321658, rs763715733, rs1131691823, rs749343808, rs765113367 View all (1 more)	RCV001335001 RCV000762912 RCV004819246 RCV000194172 RCV000192998 RCV000194611 RCV000192528 RCV000194484 RCV000192408 RCV000193152 RCV002487179 RCV000001893 RCV000477911 RCV002266969 RCV000762911 RCV005012289
Seckel syndrome 5	Pathogenic	rs1060499557	RCV000470349

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs750541860	RCV005926215
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs67311635, rs7336216	RCV005888388 RCV005887601
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign	rs67311635, rs35498994	RCV005888391 RCV005887607
Gastric cancer	Likely benign; Benign	rs746591641, rs75008861	RCV005925846 RCV005888116
Lung cancer	Benign; Likely benign	rs7336216	RCV005887602
Malignant lymphoma, large B-cell, diffuse	Benign	rs35498994	RCV005887605
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	rs573822147, rs746938343, rs201219786, rs141844033, rs775833921, rs763097118, rs368895686, rs149855336	RCV004571081 RCV004571604 RCV004567855 RCV004567854 RCV004574896 RCV004574902 RCV004574903 RCV004570321
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs67311635	RCV005888389
Primary Microcephaly, Recessive	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs34991318, rs587783411, rs35599563, rs747303248, rs375905817, rs141666267, rs138938177, rs151246139, rs201531824, rs543069738, rs397718122, rs570468323, rs796638364, rs202014808	RCV000370571 RCV000364611 RCV000311605 RCV000346242 RCV000329044 RCV000348829 RCV000373910 RCV000363199 RCV000321061 RCV000313531 RCV000368335 RCV000324906 RCV000306011 RCV000386016
Sarcoma	Benign; Likely benign	rs75008861	RCV005888115
Seckel syndrome	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs34991318, rs587783411, rs35599563, rs747303248, rs375905817, rs141666267, rs138938177, rs151246139, rs201531824, rs543069738, rs397718122, rs570468323, rs796638364, rs202014808	RCV000273696 RCV000272381 RCV000368595 RCV000399021 RCV000271611 RCV000312685 RCV000260457 RCV000270877 RCV000266008 RCV000402029 RCV000273764 RCV000269884 RCV000360685 RCV000333906
Seckel syndrome 1	Benign; Conflicting classifications of pathogenicity	rs35498994, rs144938364	RCV000988968 RCV000988967
Thymoma	Conflicting classifications of pathogenicity	rs67311635	RCV005888390
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs377571847	RCV005926748
Uterine carcinosarcoma	Benign	rs35498994	RCV005887606
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs67311635, rs7336216	RCV005888392 RCV005887603
Uveal melanoma	Benign	rs35498994	RCV005887604

CPAP (centrosome assembly and centriole elongation protein)