CEP19 - centrosomal protein 19 Gene

Also Known as MOSPGF; C3orf34

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84984

About CEP19

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,706,277-196,712,250 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CEP19 Protein Structure

CEP19

CEP19: CEP19-like protein (10 - 160)

  • 0
  • 100
  • 167 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 19 kDa

  • centrosomal protein 19kDa

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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Morbid Obesity And Spermatogenic Failure
  • Obesity Due To Cep19 Deficiency

  • MOSPGF

  • Mo1 Syndrome

  • Obesity, Morbid, And Spermatogenic Failure

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Immunodeficiency 46
  • Tfrc-Related Combined Immunodeficiency

  • IMD46

  • Cid Due To Tfrc Deficiency

  • Combined Immunodeficiency Due To Tfrc Deficiency

Chromosome 3q29 Duplication Syndrome
  • Chromosome 3q29 Microduplication Syndrome

  • Trisomy 3q29

  • Microduplication 3q29 Syndrome

  • 3q29 Microduplication

  • 3q29 Microduplication Syndrome

  • 3q29 Interstitial Microduplication

Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
  • Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

  • SMDCRD

  • Smd-Crd

  • Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy

Endocrine-Cerebroosteodysplasia
  • Endocrine-Cerebro-Osteodysplasia Syndrome

  • ECO

  • Eco Syndrome

Seckel Syndrome 7
  • SCKL7

  • Microcephalic Primordial Dwarfism, Dauber Type

  • Seckel Syndrome, Type 7

Orofaciodigital Syndrome Ix
  • OFD9

  • Orofaciodigital Syndrome With Retinal Abnormalities

  • Oral-Facial-Digital Syndrome With Retinal Abnormalities

  • Orofaciodigital Syndrome 9

  • Oral-Facial-Digital Syndrome Type 9

  • Ofds Ix

  • Oral-Facial-Digital Syndrome, Type Ix

  • Ofd Syndrome 9

  • Ofds 9

  • Oral Facial Digital Syndrome 9

  • Oral Facial Digital Syndrome Type 9

  • Orofaciodigital Syndrome Type 9

  • Orofaciodigital Syndrome, Type Ix

Alstrom Syndrome
  • ALMS

  • Alström Syndrome

  • Alss

  • Alstrom-Hallgren Syndrome

  • Alstroem Syndrome

Chromosome 3q29 Deletion Syndrome
  • Chromosome 3q29 Microdeletion Syndrome

  • 3q29 Microdeletion Syndrome

  • 3q Subtelomere Deletion Syndrome

  • 3q29 Recurrent Deletion

  • 3qter Deletion

  • 3q29 Deletion Syndrome

  • Monosomy 3q29

  • Microdeletion 3q29 Syndrome

  • Del(3)(Q29)

  • Monosomy 3qter

  • 3q29 Deletion

  • Del3q29

Retinitis Pigmentosa 83
  • RP83

  • Retinitis Pigmentosa, Type 83

Cone-Rod Dystrophy 20
  • CORD20

  • Dystrophy, Cone-Rod, Type 20

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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