Centrosome-associated protein CEP250 - Homo sapiens

Centrosome-associated protein CEP250 (Homo sapiens)

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Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Centrosome-associated protein CEP250
Accession Code	Q9BV73
Gene	CEP250
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 2442)
METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQAKVLQYRSWCQELEKRLEAT GGPIPQRWENVEEPNLDELLVRLEEEQQRCESLAEVNTQLRLHMEKADVVNKALREDVEKLTVDWSRARDELMRKESQWQ MEQEFFKGYLKGEHGRLLSLWREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTVGAQSREPNGSGRMDG REPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNEDYEKMIKALRETVEILETNH TELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIAQGSGHENSLELDSSIFSQFDYQDADKALTLVRSVLTRRRQ AVQDLRQQLAGCQEAVNLLQQQHDQWEEEGKALRQRLQKLTGERDTLAGQTVDLQGEVDSLSKERELLQKAREELRQQLE VLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQEMLMGLEAKQSESLSELITLREALESSHLEGELLR QEQTEVTAALARAEQSIAELSSSENTLKTEVADLRAAAVKLSALNEALALDKVGLNQQLLQLEEENQSVCSRMEAAEQAR NALQVDLAEAEKRREALWEKNTHLEAQLQKAEEAGAELQADLRDIQEEKEEIQKKLSESRHQQEAATTQLEQLHQEAKRQ EEVLARAVQEKEALVREKAALEVRLQAVERDRQDLAEQLQGLSSAKELLESSLFEAQQQNSVIEVTKGQLEVQIQTVTQA KEVIQGEVRCLKLELDTERSQAEQERDAAARQLAQAEQEGKTALEQQKAAHEKEVNQLREKWEKERSWHQQELAKALESL EREKMELEMRLKEQQTEMEAIQAQREEERTQAESALCQMQLETEKERVSLLETLLQTQKELADASQQLERLRQDMKVQKL KEQETTGILQTQLQEAQRELKEAARQHRDDLAALQEESSSLLQDKMDLQKQVEDLKSQLVAQDDSQRLVEQEVQEKLRET QEYNRIQKELEREKASLTLSLMEKEQRLLVLQEADSIRQQELSALRQDMQEAQGEQKELSAQMELLRQEVKEKEADFLAQ EAQLLEELEASHITEQQLRASLWAQEAKAAQLQLRLRSTESQLEALAAEQQPGNQAQAQAQLASLYSALQQALGSVCESR PELSGGGDSAPSVWGLEPDQNGARSLFKRGPLLTALSAEAVASALHKLHQDLWKTQQTRDVLRDQVQKLEERLTDTEAEK SQVHTELQDLQRQLSQNQEEKSKWEGKQNSLESELMELHETMASLQSRLRRAELQRMEAQGERELLQAAKENLTAQVEHL QAAVVEARAQASAAGILEEDLRTARSALKLKNEEVESERERAQALQEQGELKVAQGKALQENLALLTQTLAEREEEVETL RGQIQELEKQREMQKAALELLSLDLKKRNQEVDLQQEQIQELEKCRSVLEHLPMAVQEREQKLTVQREQIRELEKDRETQ RNVLEHQLLELEKKDQMIESQRGQVQDLKKQLVTLECLALELEENHHKMECQQKLIKELEGQRETQRVALTHLTLDLEER SQELQAQSSQIHDLESHSTVLARELQERDQEVKSQREQIEELQRQKEHLTQDLERRDQELMLQKERIQVLEDQRTRQTKI LEEDLEQIKLSLRERGRELTTQRQLMQERAEEGKGPSKAQRGSLEHMKLILRDKEKEVECQQEHIHELQELKDQLEQQLQ GLHRKVGETSLLLSQREQEIVVLQQQLQEAREQGELKEQSLQSQLDEAQRALAQRDQELEALQQEQQQAQGQEERVKEKA DALQGALEQAHMTLKERHGELQDHKEQARRLEEELAVEGRRVQALEEVLGDLRAESREQEKALLALQQQCAEQAQEHEVE TRALQDSWLQAQAVLKERDQELEALRAESQSSRHQEEAARARAEALQEALGKAHAALQGKEQHLLEQAELSRSLEASTAT LQASLDACQAHSRQLEEALRIQEGEIQDQDLRYQEDVQQLQQALAQRDEELRHQQEREQLLEKSLAQRVQENMIQEKQNL GQEREEEEIRGLHQSVRELQLTLAQKEQEILELRETQQRNNLEALPHSHKTSPMEEQSLKLDSLEPRLQRELERLQAALR QTEAREIEWREKAQDLALSLAQTKASVSSLQEVAMFLQASVLERDSEQQRLQDELELTRRALEKERLHSPGATSTAELGS RGEQGVQLGEVSGVEAEPSPDGMEKQSWRQRLEHLQQAVARLEIDRSRLQRHNVQLRSTLEQVERERRKLKREAMRAAQA GSLEISKATASSPTQQDGRGQKNSDAKCVAELQKEVVLLQAQLTLERKQKQDYITRSAQTSRELAGLHHSLSHSLLAVAQ APEATVLEAETRRLDESLTQSLTSPGPVLLHPSPSTTQAASR

Structure Viewer (PDB: 6OQA)

Subcellular Location

Description
Cytoplasm, perinuclear region {Experimental EvidencePubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {Experimental EvidencePubMed:26337392, Experimental EvidencePubMed:30404835, Experimental EvidencePubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {Experimental EvidencePubMed:14654843, Experimental EvidencePubMed:31974111}. Cytoplasm, cytoskeleton, cilium basal body {Experimental EvidencePubMed:9647649}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250\|UniProtKB:Q60952}. Photoreceptor inner segment {ECO:0000250\|UniProtKB:Q60952}. Note=Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Unknown	UniProt	Sequence Analysis
Assigned Ontology terms

Cellular Component	Centriole (GO:0005814) Centrosome (GO:0005813) Ciliary Basal Body (GO:0036064) Cytosol (GO:0005829) Extracellular Exosome (GO:0070062) Microtubule Organizing Center (GO:0005815) Perinuclear Region Of Cytoplasm (GO:0048471) Photoreceptor Inner Segment (GO:0001917) Photoreceptor Outer Segment (GO:0001750) Protein-Containing Complex (GO:0032991)

Biology & Function

Description
May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase. Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). {Experimental EvidencePubMed:28005958, Experimental EvidencePubMed:30404835}.
Assigned Ontology terms

Biological Process	Centriole-Centriole Cohesion (GO:0010457) Cilium Assembly (GO:0060271) Detection Of Light Stimulus Involved In Visual Perception (GO:0050908) Mitotic Cell Cycle (GO:0000278) Non-Motile Cilium Assembly (GO:1905515) Positive Regulation Of Protein Localization To Centrosome (GO:1904781) Protein Localization (GO:0008104) Protein Localization To Centrosome (GO:0071539) Protein Localization To Organelle (GO:0033365) Regulation Of Centriole-Centriole Cohesion (GO:0030997)
Molecular Function	Protein C-Terminus Binding (GO:0008022) Protein Domain Specific Binding (GO:0019904) Protein Kinase Binding (GO:0019901)

Disease associations

Description
Cone-rod dystrophy and hearing loss 2 (CRDHL2) [MIM:618358]: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {Experimental EvidencePubMed:24780881, Experimental EvidencePubMed:29718797, Experimental EvidencePubMed:30459346, Experimental EvidencePubMed:30998843}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	609689 618358
DisGeNET	11190

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (10 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
A0A142I5B9	RNA-directed RNA polymerase NS5	EBI-20626135	0.35
K9N7C7	2'-O-methyltransferase	EBI-26374676	0.35
O08788	Dynactin subunit 1	EBI-11066549	0.35
P0C6X7	2'-O-methyltransferase nsp16	EBI-26377017	0.35
P0DTD1	2'-O-methyltransferase nsp16	EBI-26950012	0.56
Q7Z3B4	Nucleoporin p54	EBI-21639232	0.35
Q91B85	RNA-directed RNA polymerase NS5	EBI-11422888	0.37
Q96CV9	Optineurin	EBI-25910879	0.56
Q9WMX2	RNA-directed RNA polymerase	EBI-9082134	0.37
Q9H7C4	Syncoilin	EBI-21702482	0.35
Interactions with other proteins (26 interactors)

Partner (UniProt)		IntAct	Confidence score
Q6VMQ6	Activating transcription factor 7-interacting protein 1 (ATF-interacting protein) (ATF-IP) (ATF7-interacting protein) (ATFa-associated modulator) (hAM) (MBD1-containing chromatin-associated factor 1) (P621)	EBI-7244323	0.37
Q15008	26S proteasome non-ATPase regulatory subunit 6 (26S proteasome regulatory subunit RPN7) (26S proteasome regulatory subunit S10) (Breast cancer-associated protein SGA-113M) (Phosphonoformate immuno-associated protein 4) (Proteasome regulatory particle subunit p44S10) (p42A)	EBI-1066651	0.00
Q6UVJ0	Spindle assembly abnormal protein 6 homolog (HsSAS-6)	EBI-1570162	0.27
Q04917	14-3-3 protein eta (Protein AS1)	EBI-1644092	0.35
O88566	Axin-2 (Axin-like protein) (Axil) (Axis inhibition protein 2) (Conductin)	EBI-7866996	0.46
P63104	14-3-3 protein zeta/delta (Protein kinase C inhibitor protein 1) (KCIP-1)	EBI-8063698	0.35
Q8ZGW9	ATP-dependent dethiobiotin synthetase BioD 1 (EC 6.3.3.3) (DTB synthetase 1) (DTBS 1) (Dethiobiotin synthase 1)	EBI-2872616	0.00
Q9H0K1	Serine/threonine-protein kinase SIK2 (EC 2.7.11.1) (Qin-induced kinase) (Salt-inducible kinase 2) (SIK-2) (Serine/threonine-protein kinase SNF1-like kinase 2)	EBI-2909672	0.62
Q9HAU0	Pleckstrin homology domain-containing family A member 5 (PH domain-containing family A member 5) (Phosphoinositol 3-phosphate-binding protein 2) (PEPP-2)	EBI-3447325	0.00
P35579	Myosin-9 (Cellular myosin heavy chain, type A) (Myosin heavy chain 9) (Myosin heavy chain, non-muscle IIa) (Non-muscle myosin heavy chain A) (NMMHC-A) (Non-muscle myosin heavy chain IIa) (NMMHC II-a) (NMMHC-IIA)	EBI-11144042	0.35
Q9E7P0	Genome polyprotein	EBI-11422880	0.37
Q96KS9	Protein FAM167A	EBI-21503766	0.35
Q5SW79	Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein)	EBI-21644990	0.35
Q9NV56	MRG/MORF4L-binding protein (MRG-binding protein) (Up-regulated in colon cancer 4) (Urcc4)	EBI-21683633	0.35
Q96ES7	SAGA-associated factor 29 (Coiled-coil domain-containing protein 101) (SAGA complex-associated factor 29)	EBI-21781962	0.35
Q96GS4	BLOC-1-related complex subunit 6 (Lysosome-dispersing protein) (Lyspersin)	EBI-21795617	0.35
Q15311	RalA-binding protein 1 (RalBP1) (76 kDa Ral-interacting protein) (Dinitrophenyl S-glutathione ATPase) (DNP-SG ATPase) (EC 7.6.2.2, EC 7.6.2.3) (Ral-interacting protein 1)	EBI-21818654	0.35
Q96JB2	Conserved oligomeric Golgi complex subunit 3 (COG complex subunit 3) (Component of oligomeric Golgi complex 3) (Vesicle-docking protein SEC34 homolog) (p94)	EBI-21879136	0.35
Q9NQ48	Leucine zipper transcription factor-like protein 1	EBI-21889038	0.35
O94986	Centrosomal protein of 152 kDa (Cep152)	EBI-16171575	0.35
P06576	ATP synthase subunit beta, mitochondrial (EC 7.1.2.2) (ATP synthase F1 subunit beta)	EBI-20904592	0.40
P27824	Calnexin (IP90) (Major histocompatibility complex class I antigen-binding protein p88) (p90)	EBI-20908048	0.40
Q9UII2	ATPase inhibitor, mitochondrial (ATP synthase F1 subunit epsilon) (Inhibitor of F(1)F(o)-ATPase) (IF(1)) (IF1)	EBI-20933940	0.40
P0DTC6	ORF6 protein (ORF6) (Accessory protein 6) (Non-structural protein 6) (ns6) (Protein X3)	EBI-26495724	0.35
Q13547	Histone deacetylase 1 (HD1) (EC 3.5.1.98) (Protein deacetylase HDAC1) (EC 3.5.1.-) (Protein decrotonylase HDAC1) (EC 3.5.1.-)	EBI-26367383	0.35
P53355	Death-associated protein kinase 1 (DAP kinase 1) (EC 2.7.11.1)	EBI-28938354	0.35

Cross-References

Database	Links
UNIPROT	Q9BV73 E1P5Q3 O14812 O60588 Q9H450
PDB	6OQA
OMIM	609689 618358
DisGeNET	11190

Centrosome-associated protein CEP250 (Homo sapiens)

General Information

Protein Information

Structure Viewer (PDB: 6OQA)

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (10 interactors)

Interactions with other proteins (26 interactors)

Cross-References

Database

Links

Description

Description