CSPP1
entrez
79848
canonical
uniprot
Q1MSJ5
canonical
ensembl
ENSG00000104218
resolver
ensp
ENSP00000262210
resolver
ensp
ENSP00000430092
resolver
ensp
ENSP00000501676
resolver
ensp
ENSP00000502047
resolver
ensp
ENSP00000502421
resolver
ensp
ENSP00000502454
resolver
ensp
ENSP00000502747
resolver
ensp
ENSP00000503690
resolver
ensp
ENSP00000503711
resolver
ensp
ENSP00000503878
resolver
ensp
ENSP00000504342
resolver
ensp
ENSP00000504516
resolver
ensp
ENSP00000504532
resolver
ensp
ENSP00000504733
resolver
ensp
ENSP00000584855
resolver
ensp
ENSP00000624030
resolver
ensp
ENSP00000750548
resolver
enst
ENST00000262210
resolver
enst
ENST00000675306
resolver
enst
ENST00000675869
resolver
enst
ENST00000675955
resolver
enst
ENST00000676471
resolver
enst
ENST00000676573
resolver
enst
ENST00000676882
resolver
enst
ENST00000677592
resolver
enst
ENST00000678318
resolver
enst
ENST00000678542
resolver
enst
ENST00000678616
resolver
enst
ENST00000953971
resolver
genesymbol
CSPP1
resolver
genesymbol_syn
CSPP
resolver
hgnc
HGNC:26193
resolver
uniprot
A0A6Q8PF96
resolver
uniprot
A0A6Q8PGS3
resolver
uniprot
A0A6Q8PHN8
resolver
uniprot
A0A7I2PHE7
resolver
uniprot
A0A7I2V3Z9
resolver
uniprot
A0A7I2V4R5
resolver
uniprot
A0A7I2V5J9
resolver
uniprot
A0A7I2V5L8
resolver
uniprot
A0A7I2V5N5
resolver
uniprot
A0A7I2V5W3
resolver
uniprot
A0A7I2YQH9
resolver
uniprot
A6ND63
resolver
uniprot
Q70F00
resolver
uniprot
Q8TBC1
resolver
uniprot
Q9H688
resolver
uniprot_entry
A0A6Q8PF96_HUMAN
resolver
uniprot_entry
A0A6Q8PGS3_HUMAN
resolver
uniprot_entry
A0A6Q8PHN8_HUMAN
resolver
uniprot_entry
A0A7I2PHE7_HUMAN
resolver
uniprot_entry
A0A7I2V3Z9_HUMAN
resolver
uniprot_entry
A0A7I2V4R5_HUMAN
resolver
uniprot_entry
A0A7I2V5J9_HUMAN
resolver
uniprot_entry
A0A7I2V5L8_HUMAN
resolver
uniprot_entry
A0A7I2V5N5_HUMAN
resolver
uniprot_entry
A0A7I2V5W3_HUMAN
resolver
uniprot_entry
A0A7I2YQH9_HUMAN
resolver
uniprot_entry
CSPP1_HUMAN
resolver
uniprot_entry
Q9H688_HUMAN
resolver
uniprot_sec
A6ND63
resolver
uniprot_sec
Q70F00
resolver
uniprot_sec
Q8TBC1
resolver
amino_acid_sequence
MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIPDRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAKLEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEEKKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAEERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPPSVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQERLLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRDSETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQRMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDIDSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMKHIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 21 (JBTS21) [MIM:615636]: A 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. {ECO:0000269|PubMed:24360803, ECO:0000269|PubMed:24360807, ECO:0000269|PubMed:24360808}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in cell-cycle-dependent microtubule organization. {ECO:0000269|PubMed:16826565}.
uniprot
proteins
mass_dalton
145522
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation increases in colcemide-treated cells. {ECO:0000269|PubMed:15580290}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15580290
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16826565
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24360803
uniprot
proteins
pubmed
24360807
uniprot
proteins
pubmed
24360808
uniprot
proteins
pubmed
32453716
uniprot
proteins
pubmed
36606424
uniprot
proteins
sequence_length
1256
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:16826565}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:16826565}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16826565}. Cell projection, cilium {ECO:0000269|PubMed:36606424}. Note=Associated with mitotic spindles. {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:16826565}.
uniprot
proteins