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Q96LK0

- CEP19_HUMAN

UniProt

Q96LK0 - CEP19_HUMAN

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Protein

Centrosomal protein of 19 kDa

Gene

CEP19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 19 kDa
Short name:
Cep19
Gene namesi
Name:CEP19
Synonyms:C3orf34
ORF Names:HSD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:28209. CEP19.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmcytoskeletonspindle pole. Cytoplasmcytoskeletoncilium basal body
Note: Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase.

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. ciliary basal body Source: UniProtKB
  3. spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Morbid obesity and spermatogenic failure (MOSPGF) [MIM:615703]: An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Obesity

Organism-specific databases

MIMi615703. phenotype.
Orphaneti397615. Obesity due to CEP19 deficiency.
PharmGKBiPA142672395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 163163Centrosomal protein of 19 kDaPRO_0000251960Add
BLAST

Proteomic databases

PaxDbiQ96LK0.
PRIDEiQ96LK0.

Expressioni

Gene expression databases

BgeeiQ96LK0.
CleanExiHS_C3orf34.
ExpressionAtlasiQ96LK0. baseline and differential.
GenevestigatoriQ96LK0.

Organism-specific databases

HPAiHPA047614.

Interactioni

Protein-protein interaction databases

BioGridi124410. 6 interactions.
IntActiQ96LK0. 4 interactions.
MINTiMINT-1481099.
STRINGi9606.ENSP00000387209.

Structurei

3D structure databases

ProteinModelPortaliQ96LK0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CEP19 family.Curated

Phylogenomic databases

eggNOGiNOG41287.
GeneTreeiENSGT00390000016356.
HOVERGENiHBG081009.
InParanoidiQ96LK0.
KOiK16801.
PhylomeDBiQ96LK0.
TreeFamiTF328425.

Family and domain databases

InterProiIPR029412. CEP19.
[Graphical view]
PANTHERiPTHR31539. PTHR31539. 1 hit.
PfamiPF14933. CEP19. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96LK0-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMCTAKKCGI RFQPPAIILI YESEIKGKIR QRIMPVRNFS KFSDCTRAAE
60 70 80 90 100
QLKNNPRHKS YLEQVSLRQL EKLFSFLRGY LSGQSLAETM EQIQRETTID
110 120 130 140 150
PEEDLNKLDD KELAKRKSIM DELFEKNQKK KDDPNFVYDI EVEFPQDDQL
160
QSCGWDTESA DEF
Length:163
Mass (Da):19,166
Last modified:October 3, 2006 - v2
Checksum:iD5F65C3C0A1B1AD7
GO

Sequence cautioni

The sequence AAM47487.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB71691.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY099509 mRNA. Translation: AAM47487.1. Different initiation.
AK058155 mRNA. Translation: BAB71691.1. Different initiation.
AK314070 mRNA. Translation: BAG36771.1.
AC055725 Genomic DNA. No translation available.
BC007827 mRNA. Translation: AAH07827.1.
RefSeqiNP_116287.2. NM_032898.4.
XP_005269427.1. XM_005269370.2.
UniGeneiHs.282800.

Genome annotation databases

EnsembliENST00000409690; ENSP00000387209; ENSG00000174007.
GeneIDi84984.
KEGGihsa:84984.
UCSCiuc011btw.2. human.

Polymorphism databases

DMDMi115503728.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY099509 mRNA. Translation: AAM47487.1 . Different initiation.
AK058155 mRNA. Translation: BAB71691.1 . Different initiation.
AK314070 mRNA. Translation: BAG36771.1 .
AC055725 Genomic DNA. No translation available.
BC007827 mRNA. Translation: AAH07827.1 .
RefSeqi NP_116287.2. NM_032898.4.
XP_005269427.1. XM_005269370.2.
UniGenei Hs.282800.

3D structure databases

ProteinModelPortali Q96LK0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124410. 6 interactions.
IntActi Q96LK0. 4 interactions.
MINTi MINT-1481099.
STRINGi 9606.ENSP00000387209.

Polymorphism databases

DMDMi 115503728.

Proteomic databases

PaxDbi Q96LK0.
PRIDEi Q96LK0.

Protocols and materials databases

DNASUi 84984.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000409690 ; ENSP00000387209 ; ENSG00000174007 .
GeneIDi 84984.
KEGGi hsa:84984.
UCSCi uc011btw.2. human.

Organism-specific databases

CTDi 84984.
GeneCardsi GC03M196434.
H-InvDB HIX0003974.
HGNCi HGNC:28209. CEP19.
HPAi HPA047614.
MIMi 615586. gene.
615703. phenotype.
neXtProti NX_Q96LK0.
Orphaneti 397615. Obesity due to CEP19 deficiency.
PharmGKBi PA142672395.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41287.
GeneTreei ENSGT00390000016356.
HOVERGENi HBG081009.
InParanoidi Q96LK0.
KOi K16801.
PhylomeDBi Q96LK0.
TreeFami TF328425.

Miscellaneous databases

GenomeRNAii 84984.
NextBioi 75548.
PROi Q96LK0.
SOURCEi Search...

Gene expression databases

Bgeei Q96LK0.
CleanExi HS_C3orf34.
ExpressionAtlasi Q96LK0. baseline and differential.
Genevestigatori Q96LK0.

Family and domain databases

InterProi IPR029412. CEP19.
[Graphical view ]
PANTHERi PTHR31539. PTHR31539. 1 hit.
Pfami PF14933. CEP19. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A new spermatogenesis-related gene."
    Wang L.F., Zhang X.D., Miao S.Y., Gou D., Wang Y.
    Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Testis.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  5. "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
    Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
    EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
  6. Cited for: INVOLVEMENT IN MOSPGF, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiCEP19_HUMAN
AccessioniPrimary (citable) accession number: Q96LK0
Secondary accession number(s): B2RA74, Q96I48
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: October 29, 2014
This is version 79 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3