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Q810U5 (CCD50_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 50
Alternative name(s):
Protein Ymer
Gene names
Name:Ccdc50
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length305 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in EGFR signaling By similarity.

Subcellular location

Cytoplasm. Note: Associated with microtubules of the cytoskeleton and mitotic apparatus. Ref.4

Tissue specificity

Widely expressed. Ref.4

Developmental stage

At 14.5 dpc, strong punctate expression in the otic mesenchyme. Detected in the cells lining the lumen of the primitive cochlear duct and in the nerve fibers of the spiral ganglion, as well as in the nerve fibers invading the cochlear epithelium. At 17.5 dpc, detected only in the mesenchyme around the cochlear duct. 2 days after birth (P2), the mesenchymal expression becomes weaker, except in the region of the spiral limbus, while expression is observed for the first time in the apical region of the developing pillar cells (PCs). Also observed in the cytoplasm of outer hair cells, in their innervating nerve fibers and in the marginal cells of stria vascularis. At P9 and P12, detected in the stria vascularis and strongly through the entire length of the inner and outer PCs. At these stages, in tissues of mesenchymal origin, restricted to the spiral limbus and the spiral ligament. At P14 and P16, strong expression is maintained in the PCs and in the marginal cells of the stria vascularis, weak expression in the spiral limbus and ligament. Also detected in Deiter's cells. At P19 and P22, intense expression in the PCs and stria vascularis, as well as in the cell bodies and processes of Deiter's cells. Weak expression in the spiral limbus and ligament. At P31, when the inner ear is functionally mature, expressed only in the PCs and stria vascularis. At P69, strong expression in the PCs and less intense in stria vascularis. In the vestibular maculae and the cristae ampullaris, expression similar to that observed in the cochlea: strong signal in the mesenchyme at the initial embryonic stages that progressively becomes weaker and is less prominent in the adult (P33). At 17.5 dpc and P2, observed in nerve fibers innervating the sensory epithelia. Expression in the vestibular epithelium starts at 17.5 dpc and is readily detected at P2. Later expression increases and persists in adult stages in which it is restricted to the apical cytoplasm of the epithelial cells (at protein level). Ref.4

Post-translational modification

Phosphorylated on tyrosine residues By similarity.

Sequence caution

The sequence BAB28089.1 differs from that shown. Reason: Frameshift at position 281.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   DomainCoiled coil
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q810U5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q810U5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     189-203: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q810U5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     265-305: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 305304Coiled-coil domain-containing protein 50
PRO_0000066308

Regions

Coiled coil86 – 13045 Potential
Compositional bias214 – 24936Lys-rich
Compositional bias265 – 2684Poly-Pro

Amino acid modifications

Modified residue21N-acetylalanine By similarity

Natural variations

Alternative sequence189 – 20315Missing in isoform 2.
VSP_014986
Alternative sequence265 – 30541Missing in isoform 3.
VSP_014987

Experimental info

Sequence conflict751K → N in BAC36861. Ref.2
Sequence conflict1531P → Q in BAC36861. Ref.2
Sequence conflict1781I → N in BAC36861. Ref.2
Sequence conflict3001G → C in BAB30453. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: A49B28050941D82F

FASTA30535,321
        10         20         30         40         50         60 
MADVSVDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNIQRNR LVQHDLQVAK 

        70         80         90        100        110        120 
QLQEEDLKAQ AQLQKRYKAL EQHDCEIAQE IQEKLTIEAE RRRIQEKKDE DIARLLQEKE 

       130        140        150        160        170        180 
LQEEKRRKKH TPEFSGGSVF GDNYYHEDGG MKPRGIKEAV STPARASHRD QEWYDAEIAR 

       190        200        210        220        230        240 
KLQEEELLAT HVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKHDPECKLK 

       250        260        270        280        290        300 
AKSAHSKSKE GDEAHRSKID RPSRPPPPTM MGLEDTDPTH FTNQHSTTWH LPKSESSQKG 


FHNKQ 

« Hide

Isoform 2 [UniParc].

Checksum: E7975FEE547138CC
Show »

FASTA29033,698
Isoform 3 [UniParc].

Checksum: 0D351E1D2CE1D0DE
Show »

FASTA26430,666

References

« Hide 'large scale' references
[1]"Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28."
Vazza G., Picelli S., Bozzato A., Mostacciuolo M.L.
Gene 314:113-120(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Strain: CD-1.
Tissue: Liver.
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
Strain: C57BL/6J.
Tissue: Bone marrow, Embryo and Testis.
[3]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[4]"A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss."
Modamio-Hoeybjoer S., Mencia A., Goodyear R., del Castillo I., Richardson G., Moreno F., Moreno-Pelayo M.A.
Am. J. Hum. Genet. 80:1076-1089(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ534985 mRNA. Translation: CAD59434.1.
AK012190 mRNA. Translation: BAB28089.1. Frameshift.
AK016827 mRNA. Translation: BAB30453.1.
AK077557 mRNA. Translation: BAC36861.1.
AK151672 mRNA. Translation: BAE30598.1.
AK162434 mRNA. Translation: BAE36915.1.
CT010568 Genomic DNA. Translation: CAO77934.1.
RefSeqNP_080478.2. NM_026202.4.
UniGeneMm.258985.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ810U5. 1 interaction.
MINTMINT-4126228.

PTM databases

PhosphoSiteQ810U5.

Proteomic databases

PaxDbQ810U5.
PRIDEQ810U5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000039443; ENSMUSP00000038509; ENSMUSG00000038127. [Q810U5-3]
ENSMUST00000096127; ENSMUSP00000093841; ENSMUSG00000038127. [Q810U5-2]
ENSMUST00000100026; ENSMUSP00000097604; ENSMUSG00000038127. [Q810U5-1]
GeneID67501.
KEGGmmu:67501.
UCSCuc007yvn.2. mouse. [Q810U5-1]

Organism-specific databases

CTD152137.
MGIMGI:1914751. Ccdc50.

Phylogenomic databases

eggNOGNOG85109.
GeneTreeENSGT00390000011058.
HOGENOMHOG000290669.
HOVERGENHBG059995.
InParanoidA6X929.
OMAYYEDGGM.
OrthoDBEOG7JT6VW.
PhylomeDBQ810U5.
TreeFamTF325391.

Gene expression databases

ArrayExpressQ810U5.
BgeeQ810U5.
CleanExMM_CCDC50.
GenevestigatorQ810U5.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCCDC50. mouse.
NextBio324754.
PROQ810U5.
SOURCESearch...

Entry information

Entry nameCCD50_MOUSE
AccessionPrimary (citable) accession number: Q810U5
Secondary accession number(s): A6X929 expand/collapse secondary AC list , Q3TRW1, Q8BP82, Q9CZT1, Q9D436
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: June 1, 2003
Last modified: April 16, 2014
This is version 75 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot