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Protein

Centrosome and spindle pole-associated protein 1

Gene

CSPP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in cell-cycle-dependent microtubule organization.1 Publication

GO - Biological processi

  • positive regulation of cell division Source: UniProtKB
  • positive regulation of cytokinesis Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosome and spindle pole-associated protein 1
Gene namesi
Name:CSPP1
Synonyms:CSPP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:26193. CSPP1.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • microtubule Source: UniProtKB-KW
  • microtubule organizing center Source: HPA
  • spindle Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 21 (JBTS21)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.
See also OMIM:615636

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

MalaCardsiCSPP1.
MIMi615636. phenotype.
Orphaneti475. Joubert syndrome.
397715. Joubert syndrome with Jeune asphyxiating thoracic dystrophy.
PharmGKBiPA142672066.

Polymorphism and mutation databases

BioMutaiCSPP1.
DMDMi313104301.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12561256Centrosome and spindle pole-associated protein 1PRO_0000293464Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei244 – 2441PhosphoserineCombined sources
Modified residuei459 – 4591PhosphoserineCombined sources
Modified residuei527 – 5271PhosphoserineCombined sources
Modified residuei901 – 9011PhosphoserineCombined sources
Modified residuei920 – 9201PhosphoserineCombined sources
Modified residuei966 – 9661PhosphoserineCombined sources

Post-translational modificationi

Phosphorylated. Phosphorylation increases in colcemide-treated cells.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ1MSJ5.
MaxQBiQ1MSJ5.
PaxDbiQ1MSJ5.
PeptideAtlasiQ1MSJ5.
PRIDEiQ1MSJ5.

PTM databases

iPTMnetiQ1MSJ5.
PhosphoSiteiQ1MSJ5.

Expressioni

Tissue specificityi

Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis.2 Publications

Developmental stagei

Isoform 1 expression increases throughout the cell cycle and peaks in G2/M phase. Isoform 2 expression is highest in G1 phase and decreases thereafter.1 Publication

Gene expression databases

BgeeiENSG00000104218.
CleanExiHS_CSPP1.
ExpressionAtlasiQ1MSJ5. baseline and differential.
GenevisibleiQ1MSJ5. HS.

Organism-specific databases

HPAiHPA056174.

Interactioni

Subunit structurei

Interacts with PLEKHG6.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-10239122,EBI-618309
MRFAP1L1Q96HT83EBI-10239155,EBI-748896
RINT1Q6NUQ13EBI-10239122,EBI-726876
RPGRIP1Q96KN73EBI-10239155,EBI-1050213

Protein-protein interaction databases

BioGridi122939. 59 interactions.
IntActiQ1MSJ5. 40 interactions.
STRINGi9606.ENSP00000262210.

Structurei

3D structure databases

ProteinModelPortaliQ1MSJ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili38 – 6225Sequence analysisAdd
BLAST
Coiled coili114 – 13522Sequence analysisAdd
BLAST
Coiled coili244 – 27027Sequence analysisAdd
BLAST
Coiled coili417 – 44933Sequence analysisAdd
BLAST
Coiled coili625 – 66945Sequence analysisAdd
BLAST
Coiled coili925 – 96440Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi478 – 54164Pro-richAdd
BLAST
Compositional biasi672 – 6776Poly-Gly
Compositional biasi779 – 85577Glu-richAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFHQ. Eukaryota.
ENOG4111FD8. LUCA.
GeneTreeiENSGT00390000015084.
HOGENOMiHOG000060302.
HOVERGENiHBG107771.
InParanoidiQ1MSJ5.
KOiK16771.
OMAiPRHFEEM.
OrthoDBiEOG091G0V6F.
PhylomeDBiQ1MSJ5.
TreeFamiTF335475.

Family and domain databases

InterProiIPR026708. CSPP1.
[Graphical view]
PANTHERiPTHR21616. PTHR21616. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: Q1MSJ5-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLFPLQVAAV TSSVRDDPLE HCVSPRTRAR SPEICKMADN LDEFIEEQKA
60 70 80 90 100
RLAEDKAELE SDPPYMEMKG KLSAKLSENS KILISMAKEN IPPNSQQTRG
110 120 130 140 150
SLGIDYGLSL PLGEDYERKK HKLKEELRQD YRRYLTQGIT QGKRKKNFLS
160 170 180 190 200
TSETDPSTLG VSLPIGERLS AKERLKLERN KEYNQFLRGK EESSEKFRQV
210 220 230 240 250
EKSTEPKSQR NKKPIGQVKP DLTSQIQTSC ENSEGPRKDV LTPSEAYEEL
260 270 280 290 300
LNQRRLEEDR YRQLDDEIEL RNRRIIKKAN EEVGISNLKH QRFASKAGIP
310 320 330 340 350
DRRFHRFNED RVFDRRYHRP DQDPEVSEEM DERFRYESDF DRRLSRVYTN
360 370 380 390 400
DRMHRNKRGN MPPMEHDGDV IEQSNIRISS AENKSAPDNE TSKSANQDTC
410 420 430 440 450
SPFAGMLFGG EDRELIQRRK EKYRLELLEQ MAEQQRNKRR EKDLELRVAA
460 470 480 490 500
SGAQDPEKSP DRLKQFSVAP RHFEEMIPPE RPRIAFQTPL PPLSAPSVPP
510 520 530 540 550
IPSVHPVPSQ NEDLRSGLSS ALGEMVSPRI APLPPPPLLP PLATNYRTPY
560 570 580 590 600
DDAYYFYGSR NTFDPSLAYY GSGMMGVQPA AYVSAPVTHQ LAQPVVNTVG
610 620 630 640 650
QNELKITSDQ VINSGLIFED KPKPSKQSLQ SYQEALQQQI REREERRKKE
660 670 680 690 700
REEKEEYEAK LEAEMRTYNP WGKGGGGAPL RDAKGNLITD LNRMHRQNID
710 720 730 740 750
AYHNPDARTY EDKRAVVSLD PNLATSNAEN LEDAANKSSG HMQTQSSPFA
760 770 780 790 800
RGNVFGEPPT ELQIKQQELY KNFLRFQIEE KKQREEAERE RLRIAEEKEE
810 820 830 840 850
RRLAEQRARI QQEYEEEQEK KREKEEEQRL KNEEHIRLAE ERQKEAERKK
860 870 880 890 900
KEEEEKYNLQ LQHYCERDNL IGEETKHMRQ PSPIVPALQN KIASKLQRPP
910 920 930 940 950
SVDSIIRSFI HESSMSRAQS PPVPARKNQL RAEEEKKNVI MELSEMRKQL
960 970 980 990 1000
RSEERRLQER LLHMDSDDEI PIRKKERNPM DIFDMARHRL QAPVRRQSPK
1010 1020 1030 1040 1050
GLDAATFQNV HDFNELKDRD SETRVDLKFM YLDPPRDHHT LEIQQQALLR
1060 1070 1080 1090 1100
EQQKRLNRIK MQEGAKVDLD AIPSAKVREQ RMPRDDTSDF LKNSLLESDS
1110 1120 1130 1140 1150
AFIGAYGETY PAIEDDVLPP PSQLPSARER RRNKWKGLDI DSSRPNVAPD
1160 1170 1180 1190 1200
GLSLKSISSV NVDELRVRNE ERMRRLNEFH NKPINTDDES SLVDPDDIMK
1210 1220 1230 1240 1250
HIGDDGSNSV ATEPWLRPGT SETLKRFMAE QLNQEQQQIP GKPGTFTWQG

LSTAHG
Length:1,256
Mass (Da):145,522
Last modified:November 30, 2010 - v4
Checksum:i81AA10E05F7A5A71
GO
Isoform 1 (identifier: Q1MSJ5-1) [UniParc]FASTAAdd to basket
Also known as: CSPP-L

The sequence of this isoform differs from the canonical sequence as follows:
     138-172: Missing.

Show »
Length:1,221
Mass (Da):141,823
Checksum:iB95D46B69E7DC5CB
GO
Isoform 2 (identifier: Q1MSJ5-2) [UniParc]FASTAAdd to basket
Also known as: CSPP, CSPP-S

The sequence of this isoform differs from the canonical sequence as follows:
     1-329: Missing.
     689-740: TDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSG → S

Show »
Length:876
Mass (Da):101,555
Checksum:iAC694546724EE0C5
GO

Sequence cautioni

The sequence AAH22867 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti855 – 8551E → G in CAE47426 (PubMed:15580290).Curated
Sequence conflicti855 – 8551E → G in CAJ42307 (PubMed:16826565).Curated
Sequence conflicti860 – 8601Q → E in AAH22867 (PubMed:15489334).Curated
Sequence conflicti905 – 9051I → T in CAE47426 (PubMed:15580290).Curated
Sequence conflicti905 – 9051I → T in CAJ42307 (PubMed:16826565).Curated
Sequence conflicti955 – 9551R → K in CAE47426 (PubMed:15580290).Curated
Sequence conflicti955 – 9551R → K in CAJ42307 (PubMed:16826565).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti907 – 9071R → H.1 Publication
Corresponds to variant rs16933182 [ dbSNP | Ensembl ].
VAR_033045
Natural varianti1135 – 11351W → R.1 Publication
Corresponds to variant rs1808140 [ dbSNP | Ensembl ].
VAR_047014

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 329329Missing in isoform 2. 1 PublicationVSP_026475Add
BLAST
Alternative sequencei138 – 17235Missing in isoform 1. 1 PublicationVSP_040072Add
BLAST
Alternative sequencei689 – 74052TDLNR…NKSSG → S in isoform 2. 1 PublicationVSP_026476Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ583433 mRNA. Translation: CAE47426.1.
AM156947 mRNA. Translation: CAJ42307.1.
AC087359 Genomic DNA. No translation available.
AC109335 Genomic DNA. No translation available.
AK127108 mRNA. No translation available.
BC022867 mRNA. Translation: AAH22867.1. Different initiation.
CCDSiCCDS43744.1. [Q1MSJ5-1]
CCDS78344.1. [Q1MSJ5-2]
RefSeqiNP_001278268.1. NM_001291339.1. [Q1MSJ5-2]
NP_079066.5. NM_024790.6. [Q1MSJ5-1]
UniGeneiHs.370147.

Genome annotation databases

EnsembliENST00000262210; ENSP00000262210; ENSG00000104218. [Q1MSJ5-1]
ENST00000519668; ENSP00000430092; ENSG00000104218. [Q1MSJ5-2]
GeneIDi79848.
KEGGihsa:79848.
UCSCiuc003xxj.4. human. [Q1MSJ5-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ583433 mRNA. Translation: CAE47426.1.
AM156947 mRNA. Translation: CAJ42307.1.
AC087359 Genomic DNA. No translation available.
AC109335 Genomic DNA. No translation available.
AK127108 mRNA. No translation available.
BC022867 mRNA. Translation: AAH22867.1. Different initiation.
CCDSiCCDS43744.1. [Q1MSJ5-1]
CCDS78344.1. [Q1MSJ5-2]
RefSeqiNP_001278268.1. NM_001291339.1. [Q1MSJ5-2]
NP_079066.5. NM_024790.6. [Q1MSJ5-1]
UniGeneiHs.370147.

3D structure databases

ProteinModelPortaliQ1MSJ5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122939. 59 interactions.
IntActiQ1MSJ5. 40 interactions.
STRINGi9606.ENSP00000262210.

PTM databases

iPTMnetiQ1MSJ5.
PhosphoSiteiQ1MSJ5.

Polymorphism and mutation databases

BioMutaiCSPP1.
DMDMi313104301.

Proteomic databases

EPDiQ1MSJ5.
MaxQBiQ1MSJ5.
PaxDbiQ1MSJ5.
PeptideAtlasiQ1MSJ5.
PRIDEiQ1MSJ5.

Protocols and materials databases

DNASUi79848.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262210; ENSP00000262210; ENSG00000104218. [Q1MSJ5-1]
ENST00000519668; ENSP00000430092; ENSG00000104218. [Q1MSJ5-2]
GeneIDi79848.
KEGGihsa:79848.
UCSCiuc003xxj.4. human. [Q1MSJ5-3]

Organism-specific databases

CTDi79848.
GeneCardsiCSPP1.
H-InvDBHIX0007563.
HGNCiHGNC:26193. CSPP1.
HPAiHPA056174.
MalaCardsiCSPP1.
MIMi611654. gene.
615636. phenotype.
neXtProtiNX_Q1MSJ5.
Orphaneti475. Joubert syndrome.
397715. Joubert syndrome with Jeune asphyxiating thoracic dystrophy.
PharmGKBiPA142672066.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFHQ. Eukaryota.
ENOG4111FD8. LUCA.
GeneTreeiENSGT00390000015084.
HOGENOMiHOG000060302.
HOVERGENiHBG107771.
InParanoidiQ1MSJ5.
KOiK16771.
OMAiPRHFEEM.
OrthoDBiEOG091G0V6F.
PhylomeDBiQ1MSJ5.
TreeFamiTF335475.

Miscellaneous databases

ChiTaRSiCSPP1. human.
GenomeRNAii79848.
PROiQ1MSJ5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104218.
CleanExiHS_CSPP1.
ExpressionAtlasiQ1MSJ5. baseline and differential.
GenevisibleiQ1MSJ5. HS.

Family and domain databases

InterProiIPR026708. CSPP1.
[Graphical view]
PANTHERiPTHR21616. PTHR21616. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCSPP1_HUMAN
AccessioniPrimary (citable) accession number: Q1MSJ5
Secondary accession number(s): A6ND63, Q70F00, Q8TBC1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: November 30, 2010
Last modified: September 7, 2016
This is version 90 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.