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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79848
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosome and spindle pole associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CSPP1
Synonyms (NCBI Gene) Gene synonyms aliases	CSPP, CSPP-L, JBTS21
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q13.1-q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 assay, RNA-seq, qRT-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

Protein

UniProt ID

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

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
Joubert Syndrome	joubert syndrome 21	rs374703898, rs750696284, rs587777142, rs863225193, rs1021950925, rs587777143, rs771203308, rs1189289587, rs375113643, rs761382780, rs1554604482, rs1554562278, rs863225191, rs1380418532, rs587777145 View all (19 more)	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs587777145	N/A

Show/Hide Unknown Diseases (4)

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.
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	N/A	N/A	GenCC
Meckel Syndrome	Meckel syndrome	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)