CEP19 - centrosomal protein 19 Gene
Also Known as MOSPGF; C3orf34
Species: Homo sapiens
About CEP19
This gene has 2 transcripts (splice variants), 200 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 6.7), brain (RPKM 1.9) and 21 other tissues.
Summary
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and Insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
CEP19 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001379468.1 | NP_001366397.1 | centrosomal protein of 19 kDa isoform 2 |
| NM_001379469.1 | NP_001366398.1 | centrosomal protein of 19 kDa isoform 1 |
| NM_001379470.1 | NP_001366399.1 | centrosomal protein of 19 kDa isoform 1 |
| NM_032898.5 | NP_116287.3 | centrosomal protein of 19 kDa isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
28428259 | GOA |
| involved in microtubule anchoring at centrosome |
IMP
IMP: Inferred from mutant phenotype
|
28659385 | GOA |
| involved in vesicle targeting, trans-Golgi to periciliary membrane compartment |
IMP
IMP: Inferred from mutant phenotype
|
28659385 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centriole |
IDA
IDA: Inferred from direct assay
|
21399614 | GOA |
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
24268657 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
28625565 | GOA |
| located in spindle pole |
IDA
IDA: Inferred from direct assay
|
21399614 | GOA |
CEP19 Protein Structure
CEP19: CEP19-like protein (10 - 160)
- 0
- 100
- 167 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
centrosomal protein of 19 kDa |
|
CEP19 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CEP19 | Q96LK0 | CCDC102B | Homo sapiens | Q68D86 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC102B | Homo sapiens | Q68D86 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC102B | Homo sapiens | Q68D86 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC102B | Homo sapiens | Q68D86 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB14 | Homo sapiens | O43829 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB14 | Homo sapiens | O43829 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB14 | Homo sapiens | O43829 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB14 | Homo sapiens | O43829 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | KIAA1958 | Homo sapiens | Q8N8K9 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | C4orf19 | Homo sapiens | Q8IY42 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | C4orf19 | Homo sapiens | Q8IY42 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | FOXR1 | Homo sapiens | Q6PIV2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | FOXR1 | Homo sapiens | Q6PIV2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PAPSS2 | Homo sapiens | O95340 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PAPSS2 | Homo sapiens | O95340 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | REL | Homo sapiens | Q04864-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | REL | Homo sapiens | Q04864-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TVP23B | Homo sapiens | Q9NYZ1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TVP23B | Homo sapiens | Q9NYZ1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TVP23B | Homo sapiens | Q9NYZ1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZNF438 | Homo sapiens | Q7Z4V0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZNF438 | Homo sapiens | Q7Z4V0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB10 | Homo sapiens | Q96DT7-3 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZBTB10 | Homo sapiens | Q96DT7-3 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SYNE4 | Homo sapiens | Q8N205-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SYNE4 | Homo sapiens | Q8N205-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2B | Homo sapiens | Q9UNT1-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2B | Homo sapiens | Q9UNT1-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2B | Homo sapiens | Q9UNT1-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684 | 33961781 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684 | 26638075 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684 | 26638075 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CEP43 | Homo sapiens | O95684-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | q6zt36_human | Homo sapiens | Q6ZT36 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | q6zt36_human | Homo sapiens | Q6ZT36 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PIBF1 | Homo sapiens | Q4G0R1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PIBF1 | Homo sapiens | Q4G0R1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | NOTO | Homo sapiens | A8MTQ0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | NOTO | Homo sapiens | A8MTQ0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TRAIP | Homo sapiens | Q9BWF2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TRAIP | Homo sapiens | Q9BWF2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TRAIP | Homo sapiens | Q9BWF2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | LYSMD2 | Homo sapiens | Q8IV50-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | LYSMD2 | Homo sapiens | Q8IV50-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PRAP1 | Homo sapiens | Q96NZ9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PRAP1 | Homo sapiens | Q96NZ9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PRAP1 | Homo sapiens | Q96NZ9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZFP1 | Homo sapiens | Q6P2D0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZFP1 | Homo sapiens | Q6P2D0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | VPS52 | Homo sapiens | Q8N1B4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | VPS52 | Homo sapiens | Q8N1B4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PRKAR1B | Homo sapiens | P31321 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PRKAR1B | Homo sapiens | P31321 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CDR1 | Homo sapiens | P51861 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CDR1 | Homo sapiens | P51861 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SENP3 | Homo sapiens | Q9H4L4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SENP3 | Homo sapiens | Q9H4L4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SENP3 | Homo sapiens | Q9H4L4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | VCP | Homo sapiens | P55072 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | VCP | Homo sapiens | P55072 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | VCP | Homo sapiens | P55072 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZNF420 | Homo sapiens | Q8TAQ5 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ZNF420 | Homo sapiens | Q8TAQ5 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | RABL2A | Homo sapiens | Q9UBK7-2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PEX13 | Homo sapiens | Q92968 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PEX13 | Homo sapiens | Q92968 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | GNL3 | Homo sapiens | Q9BVP2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | GNL3 | Homo sapiens | Q9BVP2 | 26638075 | |
|
Intra
|
CEP19 | Q96LK0 | ROBO4 | Homo sapiens | Q8WZ75 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ROBO4 | Homo sapiens | Q8WZ75 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC106 | Homo sapiens | Q9BWC9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC106 | Homo sapiens | Q9BWC9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC106 | Homo sapiens | Q9BWC9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SYNE4 | Homo sapiens | Q8N205 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | SYNE4 | Homo sapiens | Q8N205 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | SYNE4 | Homo sapiens | Q8N205 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | PTPN23 | Homo sapiens | Q9H3S7 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PTPN23 | Homo sapiens | Q9H3S7 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PTPN23 | Homo sapiens | Q9H3S7 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | HSPB2 | Homo sapiens | Q16082 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | HSPB2 | Homo sapiens | Q16082 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | KXD1 | Homo sapiens | Q9BQD3 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | KXD1 | Homo sapiens | Q9BQD3 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | KXD1 | Homo sapiens | Q9BQD3 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TNNI1 | Homo sapiens | P19237 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TNNI1 | Homo sapiens | P19237 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SERTAD3 | Homo sapiens | Q9UJW9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SERTAD3 | Homo sapiens | Q9UJW9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | SERTAD3 | Homo sapiens | Q9UJW9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CALCOCO1 | Homo sapiens | Q9P1Z2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CALCOCO1 | Homo sapiens | Q9P1Z2 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | CALCOCO1 | Homo sapiens | Q9P1Z2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CALCOCO1 | Homo sapiens | Q9P1Z2 | 25416956 | |
|
Intra
|
CEP19 | Q96LK0 | CALCOCO1 | Homo sapiens | Q9P1Z2 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC74A | Homo sapiens | Q96AQ1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CCDC74A | Homo sapiens | Q96AQ1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CREB3L3 | Homo sapiens | Q68CJ9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | CREB3L3 | Homo sapiens | Q68CJ9 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | EVI5 | Homo sapiens | O60447 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | EVI5 | Homo sapiens | O60447 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ANAPC15 | Homo sapiens | P60006 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | ANAPC15 | Homo sapiens | P60006 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | GMEB2 | Homo sapiens | Q9UKD1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | GMEB2 | Homo sapiens | Q9UKD1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | GMEB2 | Homo sapiens | Q9UKD1 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PLEKHO1 | Homo sapiens | Q53GL0 | 32296183 | |
|
Intra
|
CEP19 | Q96LK0 | PLEKHO1 | Homo sapiens | Q53GL0 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Morbid Obesity And Spermatogenic Failure |
|
|
| Bardet-Biedl Syndrome |
|
|
| Immunodeficiency 46 |
|
|
| Chromosome 3q29 Duplication Syndrome |
|
|
| Spermatogenic Failure |
|
|
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
|
| Endocrine-Cerebroosteodysplasia |
|
|
| Seckel Syndrome 7 |
|
|
| Orofaciodigital Syndrome Ix |
|
|
| Alstrom Syndrome |
|
|
| Chromosome 3q29 Deletion Syndrome |
|
|
| Retinitis Pigmentosa 83 |
|
|
| Cone-Rod Dystrophy 20 |
|
|
| Polydactyly |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CEP19 | MGD | MGI:1914244 |
| Bos taurus | CEP19 | VGNC | VGNC:27198 |
| Canis familiaris | CEP19 | VGNC | VGNC:39123 |
| Felis catus | CEP19 | VGNC | VGNC:102643 |
| Rattus norvegicus | CEP19 | RGD | RGD:621352 |
| Macaca mulatta | CEP19 | VGNC | VGNC:71121 |
| Others | CEP19 | NCBI |