Reviewed, UniProtKB/Swiss-Prot Q8IVM0 (CCD50_HUMAN)

Names and origin

Protein names

Recommended name:
    Coiled-coil domain-containing protein 50
Alternative name(s):
    Protein Ymer

Gene names

Name:	CCDC50
Synonyms:	C3orf6

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	306 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in EGFR signaling. Ref.3
Subcellular location	Cytoplasm. Note: Associated with microtubules of the cytoskeleton and mitotic apparatus By similarity.
Tissue specificity	Isoform 1 and isoform 2 are co-expressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. Ref.1
Post-translational modification	Phosphorylated on tyrosine residues. Ref.3 Ref.4 Ref.5 Ref.9
Involvement in disease	Defects in CCDC50 are the cause of autosomal dominant non-syndromic sensorineural deafness type 44 (DFNA44) [MIM:607453]. The hearing loss is initially moderate and affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The onset of the hearing loss occurs in the first decade of life. Ref.6
Miscellaneous	Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Non-syndromic deafness
Domain	Coiled coil
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from direct assay. Source: HPA
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
OTUD7B	Q6GQQ9	2	EBI-723996,EBI-527784
RIPK1	Q13546	2	EBI-723996,EBI-358507
RPS27A	P62988	1	EBI-723996,EBI-413034

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IVM0-1)

Also known as: Short;

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.

Note: Major isoform.

Isoform 2 (identifier: Q8IVM0-2)

Also known as: Long;

The sequence of this isoform differs from the canonical sequence as follows:
     149-149: G → GDQPGSRRAR...SEEQLHLHDA

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed
	Chain	2 – 306	305	Coiled-coil domain-containing protein 50		PRO_0000066307
Regions
	Coiled coil	63 – 130	68	Potential
	Compositional bias	214 – 250	37	Lys-rich
	Compositional bias	266 – 269	4	Poly-Pro
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.8
	Modified residue	140	1	Phosphotyrosine Ref.4
	Modified residue	144	1	Phosphotyrosine Ref.5 Ref.9
	Modified residue	145	1	Phosphotyrosine Ref.4
	Modified residue	279	1	Phosphotyrosine Ref.5
Natural variations
	Alternative sequence	149	1	G → GDQPGSRRARELGSGFSRPC RLQRDGKTVKHKKEKPEHPL ENLEEPEQHCSSKRSLSSSS SGKGRDNPHINNEQHERKRS TQERPRRPLLPTISGEVFLS TECDDWETKINHQTRNWEKQ SRHQDRLSPKSSQKAGLHCK EVVYGRDHGQGEHRKRRHRP RTPPFSESEEQLHLHDA in isoform 2.		VSP_014985
	Natural variant	121	1	L → F: dbSNP rs35380043.		VAR_050754
	Natural variant	156	1	M → T: dbSNP rs293813.		VAR_050755

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Short) [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 3E935B62225CC93F	FASTA	306	35,822
	10 20 30 40 50 60 MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK 70 80 90 100 110 120 QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE 130 140 150 160 170 180 LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR 190 200 210 220 230 240 KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK 250 260 270 280 290 300 TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK GFHYKH
	Isoform 2 (Long). Checksum: AD8FC25D90590BC2	FASTA	482	56,340
	10 20 30 40 50 60 MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK 70 80 90 100 110 120 QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE 130 140 150 160 170 180 LQEEKKRKKH FPEFPATRAY ADSYYYEDGD QPGSRRAREL GSGFSRPCRL QRDGKTVKHK 190 200 210 220 230 240 KEKPEHPLEN LEEPEQHCSS KRSLSSSSSG KGRDNPHINN EQHERKRSTQ ERPRRPLLPT 250 260 270 280 290 300 ISGEVFLSTE CDDWETKINH QTRNWEKQSR HQDRLSPKSS QKAGLHCKEV VYGRDHGQGE 310 320 330 340 350 360 HRKRRHRPRT PPFSESEEQL HLHDAGMKPR VMKEAVSTPS RMAHRDQEWY DAEIARKLQE 370 380 390 400 410 420 EELLATQVDM RAAQVAQDEE IARLLMAEEK KAYKKAKERE KSSLDKRKQD PEWKPKTAKA 430 440 450 460 470 480 ANSKSKESDE PHHSKNERPA RPPPPIMTDG EDADYTHFTN QQSSTRHFSK SESSHKGFHY KH

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: 14527723] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.
[3]	"Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics." Blagoev B., Ong S.-E., Kratchmarova I., Mann M. Nat. Biotechnol. 22:1139-1145(2004) [PubMed: 15314609] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION.
[4]	"Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules." Zhang Y., Wolf-Yadlin A., Ross P.L., Pappin D.J., Rush J., Lauffenburger D.A., White F.M. Mol. Cell. Proteomics 4:1240-1250(2005) [PubMed: 15951569] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-140 AND TYR-145, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-144 AND TYR-279, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	"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: 17503326] [Abstract] Cited for: INVOLVEMENT IN DFNA44.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY.
[9]	"An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells." Heibeck T.H., Ding S.-J., Opresko L.K., Zhao R., Schepmoes A.A., Yang F., Tolmachev A.V., Monroe M.E., Camp D.G. II, Smith R.D., Wiley H.S., Qian W.-J. J. Proteome Res. 8:3852-3861(2009) [PubMed: 19534553] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-144, MASS SPECTROMETRY. Tissue: Mammary epithelium.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ416916 mRNA. Translation: CAC95196.1. AJ557013 mRNA. Translation: CAD89526.1. BC065004 mRNA. Translation: AAH65004.1.
IPI	IPI00217059. IPI00383423.
RefSeq	NP_777568.1. NP_848018.1.
UniGene	Hs.478682
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IVM0. 4 interactions.
STRING	Q8IVM0.
PTM databases
PhosphoSite	Q8IVM0.
Proteomic databases
PeptideAtlas	Q8IVM0.
PRIDE	Q8IVM0.
Genome annotation databases
Ensembl	ENST00000392455; ENSP00000376249; ENSG00000152492; Homo sapiens. [Genome view]
GeneID	152137.
KEGG	hsa:152137.
UCSC	uc003fsv.1. human. uc003fsw.1. human.
Organism-specific databases
CTD	152137.
GeneCards	GC03P192530.
H-InvDB	HIX0030754.
HGNC	HGNC:18111. CCDC50.
HPA	HPA001336.
MIM	607453. phenotype. 611051. gene.
Orphanet	90635. Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA.
PharmGKB	PA25902.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18214.
HOVERGEN	Q8IVM0.
OMA	HGQGEHR.
Gene expression databases
ArrayExpress	Q8IVM0.
Bgee	Q8IVM0.
CleanEx	HS_CCDC50.
Genevestigator	Q8IVM0.
GermOnline	ENSG00000152492. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	86904.
SOURCE	Search...

Entry information

Entry name

CCD50_HUMAN

Accession

Primary (citable) accession number: Q8IVM0
Secondary accession number(s): Q86VH7

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	March 1, 2003
Last modified:	January 19, 2010
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.