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P57076 (CU059_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UPF0769 protein C21orf59
Gene names
Name:C21orf59
Synonyms:C21orf48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length290 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in motile cilia function, possibly by acting on dynein arm assembly. Ref.7

Subcellular location

Cytoplasm By similarity. Note: Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization By similarity.

Involvement in disease

Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis. Ref.7

Sequence similarities

Belongs to the UPF0769 family.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityPolymorphism
   DiseaseCiliopathy
Primary ciliary dyskinesia
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytosol

Inferred from direct assay PubMed 16780588. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 16780588. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 290290UPF0769 protein C21orf59
PRO_0000079523

Amino acid modifications

Modified residue2641Phosphotyrosine Ref.5
Cross-link210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.6

Natural variations

Natural variant331R → W in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. Ref.7
VAR_070200
Natural variant1411D → G in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. Ref.7
VAR_070201
Natural variant1731D → Y in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. Ref.7
VAR_070202

Experimental info

Sequence conflict1761G → E in BAD97038. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P57076 [UniParc].

Last modified December 1, 2000. Version 1.
Checksum: 4C56A8C989B108DD

FASTA29033,224
        10         20         30         40         50         60 
MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE LAEHGIFLPP 

        70         80         90        100        110        120 
NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN GQAPNEKMKQ VLKKTIEEAK 

       130        140        150        160        170        180 
AIISKKQVEA GVCVTMEMVK DALDQLRGAV MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG 

       190        200        210        220        230        240 
LNVIKEAEAQ LWWAAKELRR TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK 

       250        260        270        280        290 
QLMLYYHRRQ EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR 

« Hide

References

« Hide 'large scale' references
[1]Lutfalla G.
Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Thymus.
[3]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [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: Placenta.
[5]"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-264, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-210.
Tissue: Mammary cancer.
[7]"Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia."
Austin-Tse C., Halbritter J., Zariwala M.A., Gilberti R.M., Gee H.Y., Hellman N., Pathak N., Liu Y., Panizzi J.R., Patel-King R.S., Tritschler D., Bower R., O'Toole E., Porath J.D., Hurd T.W., Chaki M., Diaz K.A., Kohl S. expand/collapse author list , Lovric S., Hwang D.Y., Braun D.A., Schueler M., Airik R., Otto E.A., Leigh M.W., Noone P.G., Carson J.L., Davis S.D., Pittman J.E., Ferkol T.W., Atkinson J.J., Olivier K.N., Sagel S.D., Dell S.D., Rosenfeld M., Milla C.E., Loges N.T., Omran H., Porter M.E., King S.M., Knowles M.R., Drummond I.A., Hildebrandt F.
Am. J. Hum. Genet. 93:672-686(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN CILD26, VARIANTS TRP-33; GLY-141 AND TYR-173.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF282851 mRNA. Translation: AAG00496.1.
AK223318 mRNA. Translation: BAD97038.1.
AP000275 Genomic DNA. No translation available.
BC000709 mRNA. Translation: AAH00709.1.
RefSeqNP_067077.1. NM_021254.2.
UniGeneHs.5811.

3D structure databases

ProteinModelPortalP57076.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121187. 6 interactions.
IntActP57076. 1 interaction.
MINTMINT-7004944.
STRING9606.ENSP00000290155.

PTM databases

PhosphoSiteP57076.

Polymorphism databases

DMDM10719917.

Proteomic databases

PaxDbP57076.
PRIDEP57076.

Protocols and materials databases

DNASU56683.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290155; ENSP00000290155; ENSG00000159079.
GeneID56683.
KEGGhsa:56683.
UCSCuc002yqc.3. human.

Organism-specific databases

CTD56683.
GeneCardsGC21M033951.
H-InvDBHIX0016064.
HGNCHGNC:1301. C21orf59.
HPACAB034170.
HPA018453.
HPA019055.
HPA028849.
MIM615494. gene.
615500. phenotype.
neXtProtNX_P57076.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA25854.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74285.
HOGENOMHOG000282965.
HOVERGENHBG051236.
InParanoidP57076.
OMACSKMEEL.
PhylomeDBP57076.
TreeFamTF323482.

Gene expression databases

ArrayExpressP57076.
BgeeP57076.
CleanExHS_C21orf59.
GenevestigatorP57076.

Family and domain databases

InterProIPR021298. DUF2870.
[Graphical view]
PfamPF11069. DUF2870. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSC21orf59. human.
GeneWikiC21orf59.
GenomeRNAi56683.
NextBio62191.
SOURCESearch...

Entry information

Entry nameCU059_HUMAN
AccessionPrimary (citable) accession number: P57076
Secondary accession number(s): Q53FH0
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: March 19, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM