O15078 (CE290_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified May 1, 2013. Version 115. History...
Names and origin
|Protein names||Recommended name:|
Centrosomal protein of 290 kDa
Bardet-Biedl syndrome 14 protein
Cancer/testis antigen 87
Tumor antigen se2-2
|Organism||Homo sapiens (Human) [Reference proteome]|
|Taxonomic identifier||9606 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo|
|Sequence length||2479 AA.|
|Protein existence||Evidence at protein level|
General annotation (Comments)
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition By similarity. Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Ref.1
Part of the tectonic-like complex (also named B9 complex) By similarity. Interacts with ATF4 via its N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with IQCB1. Interacts with ZNF423. Interacts with FAM161A. Interacts with RPGR By similarity. Ref.1 Ref.8 Ref.11 Ref.12 Ref.13
Cytoplasm › cytoskeleton › centrosome. Nucleus. Cell projection › cilium. Cytoplasm › cytoskeleton › cilium basal body By similarity. Note: Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.1 Ref.6 Ref.11 Ref.19
|Involvement in disease|
Joubert syndrome 5 (JBTS5) [MIM:610188]: 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 and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Ref.5
Bardet-Biedl syndrome 14 (BBS14) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
The sequence AAG34904.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence BAA20828.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB15196.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
|This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]|
|Isoform 1 (identifier: O15078-1) |
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.
|Isoform 2 (identifier: O15078-2) |
The sequence of this isoform differs from the canonical sequence as follows:
|Note: No experimental confirmation available.|
Sequence annotation (Features)
|Feature key||Position(s)||Length||Description||Graphical view||Feature identifier|
|Chain||1 – 2479||2479||Centrosomal protein of 290 kDa||PRO_0000089464|
|Coiled coil||59 – 565||507||Potential|
|Coiled coil||598 – 664||67||Potential|
|Coiled coil||697 – 931||235||Potential|
|Coiled coil||958 – 1027||70||Potential|
|Coiled coil||1071 – 1498||428||Potential|
|Coiled coil||1533 – 1584||52||Potential|
|Coiled coil||1635 – 2452||818||Potential|
|Alternative sequence||1 – 940||940||Missing in isoform 2.||VSP_021027|
|Natural variant||7||1||W → C in JBTS5 and SLSN6. Ref.14 Ref.18||VAR_028356|
|Natural variant||277||1||E → Q. Ref.16||VAR_064397|
|Natural variant||534||1||E → K in JBTS5. Ref.21||VAR_068168|
|Natural variant||664||1||D → G Found in a patient with Joubert syndrome; unknown pathological significance. Ref.16 Ref.17||VAR_064398|
|Natural variant||838||1||K → E. Ref.16|
Corresponds to variant rs11104738 [ dbSNP | Ensembl ].
|Natural variant||906||1||L → W. Ref.16|
Corresponds to variant rs7970228 [ dbSNP | Ensembl ].
|Natural variant||1237||1||R → H.|
Corresponds to variant rs7307793 [ dbSNP | Ensembl ].
|Natural variant||1566||1||A → P. Ref.18||VAR_064399|
|Natural variant||1694||1||L → P. Ref.18||VAR_064400|
|Natural variant||1836||1||I → V.|
Corresponds to variant rs11104729 [ dbSNP | Ensembl ].
|Natural variant||2210||1||R → C. Ref.19||VAR_066997|
|Natural variant||2228||1||N → K. Ref.16||VAR_064401|
|Natural variant||2263||1||S → G Found in a patient with LCA10. Ref.20||VAR_067192|
|Sequence conflict||544||1||S → C in AK023677. Ref.4|
|Sequence conflict||718||1||E → G in AK023677. Ref.4|
|DQ109808 mRNA. Translation: AAZ83370.1.|
AB002371 mRNA. Translation: BAA20828.2. Different initiation.
AC091516 Genomic DNA. No translation available.
AK023677 mRNA. No translation available.
AK025632 mRNA. Translation: BAB15196.1. Sequence problems.
AF273044 mRNA. Translation: AAG34904.1. Sequence problems.
BK005587 mRNA. Translation: DAA05591.1.
|RefSeq||NP_079390.3. NM_025114.3. |
3D structure databases
Protein-protein interaction databases
|IntAct||O15078. 9 interactions.|
Protocols and materials databases
Genome annotation databases
|Ensembl||ENST00000397838; ENSP00000380938; ENSG00000198707. |
ENST00000547691; ENSP00000446905; ENSG00000198707.
ENST00000552810; ENSP00000448012; ENSG00000198707.
|UCSC||uc001taq.3. human. |
|HGNC||HGNC:29021. CEP290. |
|MIM||209900. phenotype. |
|Orphanet||110. Bardet-Biedl syndrome. |
2318. Joubert syndrome with oculorenal defect.
65. Leber congenital amaurosis.
564. Meckel syndrome.
3156. Senior-Loken syndrome.
Enzyme and pathway databases
|Reactome||REACT_115566. Cell Cycle. |
Gene expression databases
|GermOnline||ENSG00000198707. Homo sapiens. |
Family and domain databases
|InterPro||IPR026201. Cep290. |
|PANTHER||PTHR18879. PTHR18879. 1 hit. |
|Accession||Primary (citable) accession number: O15078|
Secondary accession number(s): Q1PSK5 Q9H8I0
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|
|Disclaimer||Any 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.|
|Human chromosome 12|
Human chromosome 12: entries, gene names and cross-references to MIM
|Human entries with polymorphisms or disease mutations|
List of human entries with polymorphisms or disease mutations
|Human polymorphisms and disease mutations|
Index of human polymorphisms and disease mutations
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot