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Protein

UPF0769 protein C21orf59

Gene

C21orf59

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in motile cilia function, possibly by acting on dynein arm assembly.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0769 protein C21orf59
Gene namesi
Name:C21orf59
Synonyms:C21orf48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1301. C21orf59.

Subcellular locationi

  • Cytoplasm By similarity

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

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 26 (CILD26)1 Publication

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.

Disease descriptionA 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.

See also OMIM:615500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331R → W in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070200
Natural varianti141 – 1411D → G in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070201
Natural varianti173 – 1731D → Y in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070202

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi615500. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA25854.

Polymorphism and mutation databases

BioMutaiC21orf59.
DMDMi10719917.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 290290UPF0769 protein C21orf59PRO_0000079523Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki210 – 210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei264 – 2641Phosphotyrosine1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP57076.
PaxDbiP57076.
PRIDEiP57076.

PTM databases

PhosphoSiteiP57076.

Expressioni

Gene expression databases

BgeeiP57076.
CleanExiHS_C21orf59.
ExpressionAtlasiP57076. baseline and differential.
GenevisibleiP57076. HS.

Organism-specific databases

HPAiCAB034170.
HPA018453.
HPA019055.
HPA028849.

Interactioni

Protein-protein interaction databases

BioGridi121187. 25 interactions.
IntActiP57076. 1 interaction.
MINTiMINT-7004944.
STRINGi9606.ENSP00000290155.

Structurei

3D structure databases

ProteinModelPortaliP57076.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UPF0769 family.Curated

Phylogenomic databases

eggNOGiNOG74285.
GeneTreeiENSGT00390000006278.
HOGENOMiHOG000282965.
HOVERGENiHBG051236.
InParanoidiP57076.
OMAiLEVIEPC.
PhylomeDBiP57076.
TreeFamiTF323482.

Family and domain databases

InterProiIPR021298. DUF2870.
[Graphical view]
PfamiPF11069. DUF2870. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P57076-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE
60 70 80 90 100
LAEHGIFLPP NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN
110 120 130 140 150
GQAPNEKMKQ VLKKTIEEAK AIISKKQVEA GVCVTMEMVK DALDQLRGAV
160 170 180 190 200
MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG LNVIKEAEAQ LWWAAKELRR
210 220 230 240 250
TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK QLMLYYHRRQ
260 270 280 290
EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR
Length:290
Mass (Da):33,224
Last modified:December 1, 2000 - v1
Checksum:i4C56A8C989B108DD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti176 – 1761G → E in BAD97038 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331R → W in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070200
Natural varianti141 – 1411D → G in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070201
Natural varianti173 – 1731D → Y in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
VAR_070202

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF282851 mRNA. Translation: AAG00496.1.
AK223318 mRNA. Translation: BAD97038.1.
AP000275 Genomic DNA. No translation available.
BC000709 mRNA. Translation: AAH00709.1.
CCDSiCCDS13617.1.
RefSeqiNP_067077.1. NM_021254.2.
UniGeneiHs.5811.

Genome annotation databases

EnsembliENST00000290155; ENSP00000290155; ENSG00000159079.
GeneIDi56683.
KEGGihsa:56683.
UCSCiuc002yqc.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF282851 mRNA. Translation: AAG00496.1.
AK223318 mRNA. Translation: BAD97038.1.
AP000275 Genomic DNA. No translation available.
BC000709 mRNA. Translation: AAH00709.1.
CCDSiCCDS13617.1.
RefSeqiNP_067077.1. NM_021254.2.
UniGeneiHs.5811.

3D structure databases

ProteinModelPortaliP57076.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121187. 25 interactions.
IntActiP57076. 1 interaction.
MINTiMINT-7004944.
STRINGi9606.ENSP00000290155.

PTM databases

PhosphoSiteiP57076.

Polymorphism and mutation databases

BioMutaiC21orf59.
DMDMi10719917.

Proteomic databases

MaxQBiP57076.
PaxDbiP57076.
PRIDEiP57076.

Protocols and materials databases

DNASUi56683.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290155; ENSP00000290155; ENSG00000159079.
GeneIDi56683.
KEGGihsa:56683.
UCSCiuc002yqc.3. human.

Organism-specific databases

CTDi56683.
GeneCardsiGC21M033951.
H-InvDBHIX0016064.
HGNCiHGNC:1301. C21orf59.
HPAiCAB034170.
HPA018453.
HPA019055.
HPA028849.
MIMi615494. gene.
615500. phenotype.
neXtProtiNX_P57076.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA25854.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG74285.
GeneTreeiENSGT00390000006278.
HOGENOMiHOG000282965.
HOVERGENiHBG051236.
InParanoidiP57076.
OMAiLEVIEPC.
PhylomeDBiP57076.
TreeFamiTF323482.

Miscellaneous databases

GeneWikiiC21orf59.
GenomeRNAii56683.
NextBioi62191.
PROiP57076.
SOURCEiSearch...

Gene expression databases

BgeeiP57076.
CleanExiHS_C21orf59.
ExpressionAtlasiP57076. baseline and differential.
GenevisibleiP57076. HS.

Family and domain databases

InterProiIPR021298. DUF2870.
[Graphical view]
PfamiPF11069. DUF2870. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: FUNCTION, INVOLVEMENT IN CILD26, VARIANTS TRP-33; GLY-141 AND TYR-173.

Entry informationi

Entry nameiCU059_HUMAN
AccessioniPrimary (citable) accession number: P57076
Secondary accession number(s): Q53FH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: June 24, 2015
This is version 100 of the entry and version 1 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 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.