Q810U5 (CCD50_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 50

Alternative name(s):
Protein Ymer

Gene names

Name:

Ccdc50

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	305 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cytoplasm
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 305	305	Coiled-coil domain-containing protein 50		PRO_0000066308
Regions
	Coiled coil	86 – 130	45	Potential
	Compositional bias	214 – 249	36	Lys-rich
	Compositional bias	265 – 268	4	Poly-Pro
Natural variations
	Alternative sequence	189 – 203	15	Missing in isoform 2.		VSP_014986
	Alternative sequence	265 – 305	41	Missing in isoform 3.		VSP_014987
Experimental info
	Sequence conflict	75	1	K → N in BAC36861. Ref.2
	Sequence conflict	153	1	P → Q in BAC36861. Ref.2
	Sequence conflict	178	1	I → N in BAC36861. Ref.2
	Sequence conflict	300	1	G → C in BAB30453. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: A49B28050941D82F	FASTA	305	35,321
	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
	Isoform 2 [UniParc]. Checksum: E7975FEE547138CC	FASTA	290	33,698
	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 KLQEEELLEI ARLLMAEEKK AYKKAKEREK SSLDKRKHDP ECKLKAKSAH SKSKEGDEAH 250 260 270 280 290 RSKIDRPSRP PPPTMMGLED TDPTHFTNQH STTWHLPKSE SSQKGFHNKQ
	Isoform 3 [UniParc]. Checksum: 0D351E1D2CE1D0DE	FASTA	264	30,666
	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 AKSAHSKSKE GDEAHRSKID RPSR

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00113099. IPI00626691. IPI00649117.
RefSeq	NP_080478.2. NM_026202.3.
UniGene	Mm.258985.
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q810U5.
Proteomic databases
PaxDb	Q810U5.
PRIDE	Q810U5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000039443; ENSMUSP00000038509; ENSMUSG00000038127. ENSMUST00000096127; ENSMUSP00000093841; ENSMUSG00000038127. ENSMUST00000100026; ENSMUSP00000097604; ENSMUSG00000038127.
GeneID	67501.
KEGG	mmu:67501.
UCSC	uc007yvn.2. mouse.
Organism-specific databases
CTD	152137.
MGI	MGI:1914751. Ccdc50.
Phylogenomic databases
eggNOG	NOG85109.
GeneTree	ENSGT00390000011058.
HOGENOM	HOG000290669.
HOVERGEN	HBG059995.
InParanoid	A6X929.
OMA	GGMKPRG.
OrthoDB	EOG4VMFFF.
Gene expression databases
ArrayExpress	Q810U5.
Bgee	Q810U5.
CleanEx	MM_CCDC50.
Genevestigator	Q810U5.
GermOnline	ENSMUSG00000038127. Mus musculus.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CCDC50. mouse.
NextBio	324754.
SOURCE	Search...

Entry information

Entry name

CCD50_MOUSE

Accession

Primary (citable) accession number: Q810U5
Secondary accession number(s): A6X929 , Q3TRW1, Q8BP82, Q9CZT1, Q9D436

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	June 1, 2003
Last modified:	May 1, 2013
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program