Q8IWD4 (CC117_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 117

Gene names

Name:

CCDC117

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	279 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Isoform 1 (identifier: Q8IWD4-1)

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: Q8IWD4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     12-120: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 279	279	Coiled-coil domain-containing protein 117		PRO_0000254138
Regions
	Coiled coil	141 – 168	28	Potential
Natural variations
	Alternative sequence	12 – 120	109	Missing in isoform 2.		VSP_021185
	Natural variant	147	1	R → S. Corresponds to variant rs13057011 [ dbSNP | Ensembl ].		VAR_028823
	Natural variant	272	1	S → N. Corresponds to variant rs9613680 [ dbSNP | Ensembl ].		VAR_028824
Experimental info
	Sequence conflict	102	1	L → P in BAC03592. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 97D5FBB76AE5ABFE	FASTA	279	30,541
	10 20 30 40 50 60 MAALGRPFSG LPLSGGSDFL QPPQPAFPGR AFPPGADGAE LAPRPGPRAV PSSPAGSAAR 70 80 90 100 110 120 GRVSVHCKKK HKREEEEDDD CPVRKKRITE AELCAGPNDW ILCAHQDVEG HGVNPSVSGL 130 140 150 160 170 180 SIPGILDVIC EEMDQTTGEP QCEVARRKLQ EIEDRIIDED EEVEADRNVN HLPSLVLSDT 190 200 210 220 230 240 MKTGLKREFD EVFTKKMIES MSRPSMELVL WKPLPELLSD KPKPSSNTKN YTGESQAKHV 250 260 270 AAGTAFPQRT ELFSEPRPTG MSLYNSLETA TSTEEEMEL
	Isoform 2 [UniParc]. Checksum: 796444A611D98774	FASTA	170	19,092
	10 20 30 40 50 60 MAALGRPFSG LSIPGILDVI CEEMDQTTGE PQCEVARRKL QEIEDRIIDE DEEVEADRNV 70 80 90 100 110 120 NHLPSLVLSD TMKTGLKREF DEVFTKKMIE SMSRPSMELV LWKPLPELLS DKPKPSSNTK 130 140 150 160 170 NYTGESQAKH VAAGTAFPQR TELFSEPRPT GMSLYNSLET ATSTEEEMEL

References

[1]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[2]	"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] (ISOFORM 1). Tissue: Cerebellum and Tongue.
[3]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORM 1). Tissue: Testis, Testis carcinoma and Uterine leiomyoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CR456461 mRNA. Translation: CAG30347.1. AK091133 mRNA. Translation: BAC03592.1. AK289516 mRNA. Translation: BAF82205.1. Z93930, AL023494 Genomic DNA. Translation: CAI17952.1. AL023494, Z93930 Genomic DNA. Translation: CAI20338.1. CH471095 Genomic DNA. Translation: EAW59761.1. BC040488 mRNA. Translation: AAH40488.1. BC053874 mRNA. Translation: AAH53874.1. BC065549 mRNA. Translation: AAH65549.1.
IPI	IPI00641570. IPI00877844.
RefSeq	NP_775781.1. NM_173510.2.
UniGene	Hs.406460.
3D structure databases
ProteinModelPortal	Q8IWD4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IWD4. 1 interaction.
STRING	9606.ENSP00000249064.
PTM databases
PhosphoSite	Q8IWD4.
Polymorphism databases
DMDM	74759628.
Proteomic databases
PaxDb	Q8IWD4.
PRIDE	Q8IWD4.
Protocols and materials databases
DNASU	150275.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000249064; ENSP00000249064; ENSG00000159873.
GeneID	150275.
KEGG	hsa:150275.
UCSC	uc003aeb.3. human.
Organism-specific databases
CTD	150275.
GeneCards	GC22P029168.
HGNC	HGNC:26599. CCDC117.
HPA	HPA000826.
neXtProt	NX_Q8IWD4.
PharmGKB	PA145149315.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44516.
HOGENOM	HOG000012995.
HOVERGEN	HBG081030.
InParanoid	Q8IWD4.
OMA	PQCEVAR.
OrthoDB	EOG4DNF58.
PhylomeDB	Q8IWD4.
Gene expression databases
ArrayExpress	Q8IWD4.
Bgee	Q8IWD4.
CleanEx	HS_CCDC117.
Genevestigator	Q8IWD4.
GermOnline	ENSG00000159873. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CCDC117. human.
GenomeRNAi	150275.
NextBio	86385.

Entry information

Entry name

CC117_HUMAN

Accession

Primary (citable) accession number: Q8IWD4
Secondary accession number(s): A8K0F1, Q6ICA7, Q8N278

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	March 1, 2003
Last modified:	April 3, 2013
This is version 81 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.