A2IDD5 (CCD78_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 78

Gene names

Name:	CCDC78
Synonyms:	C16orf25
ORF Names:	JFP10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	438 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Cytoplasm › perinuclear region. Cell membrane › sarcolemma. Sarcoplasmic reticulum. Note: Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm. Ref.7
Tissue specificity	Expressed primarily in skeletal muscle. Ref.7
Involvement in disease	Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence caution	The sequence AAK61249.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Membrane Sarcoplasmic reticulum
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	skeletal muscle contraction Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	perinuclear region of cytoplasm Inferred from direct assay Ref.7. Source: UniProtKB sarcolemma Inferred from direct assay Ref.7. Source: UniProtKB sarcoplasmic reticulum Inferred from direct assay Ref.7. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A2IDD5-1)

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: A2IDD5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     188-438: Missing.

Isoform 3 (identifier: A2IDD5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.

Note: Due to intron retention.

Isoform 4 (identifier: A2IDD5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     165-257: LQGEVKWALE...QHCAWQAVEH → VSVQPPSSGE...LPRPAPSGRG
     258-438: Missing.

Note: Due to intron retention.

Isoform 5 (identifier: A2IDD5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: N → NVSPLGLAAP...PGEWVAVPPQ
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.

Note: Due to intron retention.

Isoform 6 (identifier: A2IDD5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     134-144: Missing.
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.

Note: Due to intron retention.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 438	438	Coiled-coil domain-containing protein 78		PRO_0000291841
Regions
	Coiled coil	74 – 105	32	Potential
	Coiled coil	217 – 246	30	Potential
Natural variations
	Alternative sequence	20	1	N → NVSPLGLAAPAMGLKSARSP KGQEGAGSCTLGLISARRGT FTAQPGREAGLVTAWEWGHS PAWDPPGEWVAVPPQ in isoform 5.		VSP_026252
	Alternative sequence	134 – 144	11	Missing in isoform 6.		VSP_026253
	Alternative sequence	165 – 273	109	LQGEV…ALRTF → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACVSGHLTW GPILEQREPLIVGLLSLTPV SSGQPWAGSCREPERRPGQP GSDWPHRLW in isoform 3, isoform 5 and isoform 6.		VSP_026254
	Alternative sequence	165 – 257	93	LQGEV…QAVEH → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACGNPGPAA AGSPRGGQGSRAATGHTGCG AVQLPRPAPSGRG in isoform 4.		VSP_026255
	Alternative sequence	188 – 438	251	Missing in isoform 2.		VSP_026256
	Alternative sequence	258 – 438	181	Missing in isoform 4.		VSP_026257
	Alternative sequence	274 – 438	165	Missing in isoform 3, isoform 5 and isoform 6.		VSP_026258
	Natural variant	252	1	W → R. Ref.6 Corresponds to variant rs2071950 [ dbSNP | Ensembl ].		VAR_032867
Experimental info
	Sequence conflict	68	1	I → T in AAR13900. Ref.2
	Sequence conflict	153	1	N → D in BAC87488. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 1. Checksum: C178BF32086E2560	FASTA	438	48,521
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 70 80 90 100 110 120 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 130 140 150 160 170 180 HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGLQGEVK WALEHQEARQ 190 200 210 220 230 240 QALVTRVATL GRQLQGAREE ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK 250 260 270 280 290 300 DEYVLRLQHC AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH 310 320 330 340 350 360 KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED QHGGPGALLS 370 380 390 400 410 420 SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ SWNGSGHSCW SGPRWLKSNF 430 LSYRSTWTST WAGTSTKS
	Isoform 2 [UniParc]. Checksum: 13375CC87D8032C6	FASTA	187	20,887
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 70 80 90 100 110 120 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 130 140 150 160 170 180 HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGLQGEVK WALEHQEARQ QALVTRV
	Isoform 3 [UniParc]. Checksum: 94C38D2CF465E9F8	FASTA	273	29,120
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 70 80 90 100 110 120 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 130 140 150 160 170 180 HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGVSVQPP SSGERAAPET 190 200 210 220 230 240 PSLGSHPASP VCPTAAGGSE VGAGASGGPA AGTGDACVSG HLTWGPILEQ REPLIVGLLS 250 260 270 LTPVSSGQPW AGSCREPERR PGQPGSDWPH RLW
	Isoform 4 [UniParc]. Checksum: 33562B7C07665F3D	FASTA	257	26,532
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 70 80 90 100 110 120 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 130 140 150 160 170 180 HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGVSVQPP SSGERAAPET 190 200 210 220 230 240 PSLGSHPASP VCPTAAGGSE VGAGASGGPA AGTGDACGNP GPAAAGSPRG GQGSRAATGH 250 TGCGAVQLPR PAPSGRG
	Isoform 5 [UniParc]. Checksum: C0CCE9BC4AE3B52B	FASTA	347	36,680
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VSPLGLAAPA MGLKSARSPK GQEGAGSCTL GLISARRGTF 70 80 90 100 110 120 TAQPGREAGL VTAWEWGHSP AWDPPGEWVA VPPQVVLRAK DWLPGAPGGT AVWATSLEAE 130 140 150 160 170 180 VPPDLALNKE QQLQISKELV DIQITTHHLH EQHEAEIFQL KSEILRLESR VLELELRGDG 190 200 210 220 230 240 TSQGCAVPVE SDPRHPRAAA QELRHKAQVP GHSDDHRFQV QPKNTMNPEN EQHRLGSGVS 250 260 270 280 290 300 VQPPSSGERA APETPSLGSH PASPVCPTAA GGSEVGAGAS GGPAAGTGDA CVSGHLTWGP 310 320 330 340 ILEQREPLIV GLLSLTPVSS GQPWAGSCRE PERRPGQPGS DWPHRLW
	Isoform 6 [UniParc]. Checksum: 1C9E6F74AEA7131D	FASTA	262	27,844
	10 20 30 40 50 60 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 70 80 90 100 110 120 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 130 140 150 160 170 180 HPRAAAQELR HKAQVQPKNT MNPENEQHRL GSGVSVQPPS SGERAAPETP SLGSHPASPV 190 200 210 220 230 240 CPTAAGGSEV GAGASGGPAA GTGDACVSGH LTWGPILEQR EPLIVGLLSL TPVSSGQPWA 250 260 GSCREPERRP GQPGSDWPHR LW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5). Tissue: Lung and Trachea.
[2]	Li H., Zheng G., Zhong G., Ke R., Zhou G., Shen C., Lin L., Yang S. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
[3]	"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORMS 1; 2 AND 4), VARIANT ARG-252. Tissue: Brain and Lung.
[7]	"Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores." Majczenko K., Davidson A.E., Camelo-Piragua S., Agrawal P.B., Manfready R.A., Li X., Joshi S., Xu J., Peng W., Beggs A.H., Li J.Z., Burmeister M., Dowling J.J. Am. J. Hum. Genet. 91:365-371(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN CNM4.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK091831 mRNA. Translation: BAC03757.1. AK128538 mRNA. Translation: BAC87488.1. AK298111 mRNA. Translation: BAG60396.1. AK303991 mRNA. Translation: BAG64908.1. AY439221 mRNA. Translation: AAR13900.1. AE006464 Genomic DNA. Translation: AAK61249.1. Sequence problems. Z98258 Genomic DNA. Translation: CAM26479.1. CH471112 Genomic DNA. Translation: EAW85742.1. BC027941 mRNA. No translation available. BC031561 mRNA. No translation available. BC042110 mRNA. Translation: AAH42110.1.
IPI	IPI00216820. IPI00418718. IPI00640123. IPI00640899. IPI00641470. IPI00847993.
RefSeq	NP_001026907.2. NM_001031737.2.
UniGene	Hs.381943.
3D structure databases
ProteinModelPortal	A2IDD5.
ModBase	Search...
Protein-protein interaction databases
IntAct	A2IDD5. 1 interaction.
Proteomic databases
PaxDb	A2IDD5.
PRIDE	A2IDD5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293889; ENSP00000293889; ENSG00000162004.
GeneID	124093.
KEGG	hsa:124093.
UCSC	uc002cjg.3. human. uc002cji.3. human. uc002cjj.3. human. uc010uuo.1. human.
Organism-specific databases
CTD	124093.
GeneCards	GC16M000772.
HGNC	HGNC:14153. CCDC78.
HPA	HPA041186. HPA041384.
MIM	614666. gene. 614807. phenotype.
neXtProt	NX_A2IDD5.
PharmGKB	PA25539.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77695.
InParanoid	A2IDD5.
OMA	SCWSGPR.
OrthoDB	EOG4ZW5B9.
PhylomeDB	A2IDD5.
Gene expression databases
ArrayExpress	A2IDD5.
Bgee	A2IDD5.
CleanEx	HS_CCDC78.
Genevestigator	A2IDD5.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	124093.
NextBio	81224.
SOURCE	Search...

Entry information

Entry name

CCD78_HUMAN

Accession

Primary (citable) accession number: A2IDD5
Secondary accession number(s): B4DNY4 , B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	February 20, 2007
Last modified:	May 1, 2013
This is version 48 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.