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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79848
Gene name	Centrosome and spindle pole associated protein 1
Gene symbol	CSPP1
Synonyms (NCBI Gene)	CSPPCSPP-LJBTS21
Chromosome	8
Chromosome location	8q13.1-q13.2
Summary	This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200158932	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs374703898	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, synonymous variant, 5 prime UTR variant
rs375113643	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs537456518	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587777138	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777139	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777140	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777142	G>A,T	Pathogenic	Splice donor variant
rs587777143	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777145	AAGA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587777146	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs750696284	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs761382780	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs766020802	AA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs771203308	C>T	Pathogenic	Stop gained, coding sequence variant
rs863225190	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225191	AGAAGAA>-,AGAAGAAAGAAGAA	Pathogenic	Frameshift variant, coding sequence variant
rs863225192	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863225193	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs863225194	G>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886044058	G>T	Pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs1021950925	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1189289587	GGAAGAAAGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1380418532	A>T	Pathogenic	Stop gained, coding sequence variant
rs1402669959	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554562278	TA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1554604482	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554614893	TATCTATAGGAAAAAGGAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGAAGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAGATT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, splice acceptor variant
rs1563720581	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039226	hsa-miR-454-3p	CLASH	23622248
MIRT037940	hsa-miR-505-5p	CLASH	23622248
MIRT737353	hsa-miR-193a-5p	Luciferase reporter assayRNA-seqqRT-PCR	32612946
MIRT912916	hsa-miR-4522	CLIP-seq
MIRT912917	hsa-miR-944	CLIP-seq
MIRT1970759	hsa-miR-1244	CLIP-seq
MIRT1970760	hsa-miR-145	CLIP-seq
MIRT2206529	hsa-miR-199a-3p	CLIP-seq
MIRT2206530	hsa-miR-199b-3p	CLIP-seq
MIRT2206531	hsa-miR-204	CLIP-seq
MIRT2206532	hsa-miR-205	CLIP-seq
MIRT2206533	hsa-miR-211	CLIP-seq
MIRT2206534	hsa-miR-3129-5p	CLIP-seq
MIRT2206535	hsa-miR-4718	CLIP-seq
MIRT2206536	hsa-miR-4755-5p	CLIP-seq
MIRT2206537	hsa-miR-544	CLIP-seq
MIRT2206538	hsa-miR-579	CLIP-seq
MIRT2206539	hsa-miR-582-5p	CLIP-seq
MIRT2206540	hsa-miR-623	CLIP-seq
MIRT2206541	hsa-miR-936	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	19129481
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32453716, 36606424
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	19129481
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA	36606424
GO:0005929	Component	Cilium	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IBA
GO:0032467	Process	Positive regulation of cytokinesis	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	19129481
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0051781	Process	Positive regulation of cell division	IMP	19129481

MIM	HGNC	e!Ensembl
611654	26193	ENSG00000104218

Q1MSJ5

Protein name

Centrosome and spindle pole-associated protein 1

Protein function

May play a role in cell-cycle-dependent microtubule organization.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:24360807}.

Sequence

MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELE
SDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKK
HKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERN
KEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDV
LTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIP
DRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGN
MPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRK
EKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPE
RPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLP
PLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVG
QNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAK
LEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLD
PNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEE
KKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAE
ERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPP
SVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQER
LLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRD
SETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQ
RMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDI
DSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMK
HIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG

Sequence length

1256

Interactions

View interactions

1108

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CSPP1-related disorder	Pathogenic	rs587777138, rs587777145, rs1409618249, rs863225190	RCV004757126 RCV004757127 RCV004731211 RCV003982947
Joubert syndrome	Likely pathogenic; Pathogenic	rs1294428066	RCV005415621
Joubert syndrome 21	Pathogenic; Likely pathogenic	rs770296270, rs755739341, rs199791452, rs2129559034, rs752908017, rs760275528, rs1175214174, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278 View all (79 more)	RCV001332556 RCV001333223 RCV001377061 RCV001377434 RCV001382448 RCV001380746 RCV001385755 RCV000087066 RCV000087067 RCV000087068 RCV000087069 RCV000087070 RCV000087071 RCV000087072 RCV000087073 RCV000087074 RCV000087075 RCV000087076 RCV001542098 RCV001780585 RCV001780586 RCV001780587 RCV001780886 RCV002009554 RCV001894408 RCV001950917 RCV002007270 RCV001994801 RCV002037925 RCV001994713 RCV001995648 RCV002041902 RCV001992609 RCV001949545 RCV001998063 RCV002283870 RCV003089289 RCV003079178 RCV003121693 RCV003116256 RCV002590381 RCV002626911 RCV002638901 RCV002726416 RCV002851901 RCV002833541 RCV002857145 RCV002880859 RCV002875553 RCV002876211 RCV002877521 RCV002996306 RCV000201561 RCV000201587 RCV000201690 RCV000201750 RCV000201785 RCV000201671 RCV000201764 RCV000201734 RCV000201696 RCV000201570 RCV003057104 RCV003120101 RCV001859690 RCV003479785 RCV003583978 RCV003745930 RCV003746007 RCV003744165 RCV003744422 RCV003743226 RCV003743175 RCV003743198 RCV003745032 RCV003843482 RCV003868847 RCV004555776 RCV003583161 RCV000503871 RCV000501762 RCV002525170 RCV001853627 RCV001868165 RCV000652006 RCV000705921 RCV000695658 RCV000991297 RCV001066976 RCV001046614 RCV001054611 RCV001057767 RCV001175331 RCV001221087 RCV001206028 RCV001232522 RCV001231245
Malignant tumor of urinary bladder	Likely pathogenic	rs199791452	RCV005912584
Meckel-Gruber syndrome	Pathogenic; Likely pathogenic	rs587777145, rs1294428066	RCV000162164 RCV005415621
Squamous cell lung carcinoma	Pathogenic	rs587777142	RCV005887785
Uterine carcinosarcoma	Likely pathogenic	rs199791452	RCV005912585
Uterine corpus endometrial carcinoma	Likely pathogenic	rs765909612	RCV005935052
Uveal melanoma	Pathogenic	rs760205035	RCV005909048

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs191670819, rs76567936	RCV005916579 RCV005896259
Cervical cancer	Likely benign; Benign	rs75501810, rs76567936	RCV005919053 RCV005896261
Cholangiocarcinoma	Benign	rs191670819	RCV005916582
Clear cell carcinoma of kidney	-; Benign	rs1837724111, rs76567936	RCV005930106 RCV005896262
Colorectal cancer	Benign	rs76567936	RCV005896263
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs191670819, rs200546493	RCV005916578 RCV005912422
Familial pancreatic carcinoma	Benign; Likely benign	rs528357182, rs185726462	RCV005869406 RCV005896409
Gastric cancer	Benign	rs191670819	RCV005916581
Hepatocellular carcinoma	Benign	rs76567936	RCV005896260
Lung cancer	Benign	rs76567936	RCV005896266
Malignant lymphoma, large B-cell, diffuse	Benign	rs11784423	RCV005918081
Malignant tumor of esophagus	Benign; -	rs191670819, rs2129554174	RCV005916580 RCV005930214
Microcephaly	Uncertain significance	rs200535417	RCV001252707
Optic atrophy	Conflicting classifications of pathogenicity	rs199831541	RCV004816897
Ovarian serous cystadenocarcinoma	Benign	rs76567936	RCV005896264
Pancreatic adenocarcinoma	Likely benign	rs1202852032	RCV005931424
Retinal dystrophy	Uncertain significance; Likely benign	rs2129554180, rs142440392, rs762365747, rs767267797, rs779762140, rs199901120, rs754153035	RCV004816853 RCV004816965 RCV004817035 RCV004817098 RCV004817161 RCV004813586 RCV004813960
Sarcoma	Conflicting classifications of pathogenicity	rs200158932	RCV005901102

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	24360803, 24360807
Agenesis of Corpus Callosum	Associate	33270637
Breast Neoplasms	Associate	24901235
Carcinogenesis	Associate	37722005
Carcinoma Basal Cell	Associate	24901235
Carcinoma Renal Cell	Associate	37722005
Carcinoma Squamous Cell	Associate	28901451
Ciliopathies	Associate	24360803
Encephalocele	Associate	24360803
Leukoplakia	Associate	28901451
Meckel syndrome type 1	Associate	24360803
Neoplasm Metastasis	Associate	32495924
Neoplasms	Associate	28901451, 32495924
Wilms Tumor	Associate	35578692

CSPP1 (centrosome and spindle pole associated protein 1)