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Q8IWD4 (CC117_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 117
Gene names
Name:CCDC117
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length279 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 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.
Isoform 3 (identifier: Q8IWD4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     63-80: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8IWD4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     80-155: DCPVRKKRIT...RRKLQEIEDR → E
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 279279Coiled-coil domain-containing protein 117
PRO_0000254138

Regions

Coiled coil141 – 16828 Potential

Natural variations

Alternative sequence12 – 120109Missing in isoform 2.
VSP_021185
Alternative sequence63 – 8018Missing in isoform 3.
VSP_054912
Alternative sequence80 – 15576DCPVR…EIEDR → E in isoform 4.
VSP_054913
Natural variant1471R → S.
Corresponds to variant rs13057011 [ dbSNP | Ensembl ].
VAR_028823
Natural variant2721S → N.
Corresponds to variant rs9613680 [ dbSNP | Ensembl ].
VAR_028824

Experimental info

Sequence conflict1021L → P in BAC03592. Ref.2

Sequences

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

Last modified March 1, 2003. Version 1.
Checksum: 97D5FBB76AE5ABFE

FASTA27930,541
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 796444A611D98774
Show »

FASTA17019,092
Isoform 3 [UniParc].

Checksum: 3724420956B356F5
Show »

FASTA26128,348
Isoform 4 [UniParc].

Checksum: F3C86513751C6696
Show »

FASTA20422,288

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. expand/collapse author list , 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 1; 3 AND 4).
Tissue: Brain, Cerebellum, Testis 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. expand/collapse author list , 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. expand/collapse author list , 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.
AK295140 mRNA. Translation: BAH11987.1.
AK302925 mRNA. Translation: BAH13846.1.
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.
CCDSCCDS13846.1. [Q8IWD4-1]
RefSeqNP_001271192.1. NM_001284263.1.
NP_001271193.1. NM_001284264.1.
NP_001271194.1. NM_001284265.1.
NP_775781.1. NM_173510.3. [Q8IWD4-1]
UniGeneHs.406460.

3D structure databases

ProteinModelPortalQ8IWD4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127277. 3 interactions.
IntActQ8IWD4. 1 interaction.
STRING9606.ENSP00000249064.

PTM databases

PhosphoSiteQ8IWD4.

Polymorphism databases

DMDM74759628.

Proteomic databases

MaxQBQ8IWD4.
PaxDbQ8IWD4.
PRIDEQ8IWD4.

Protocols and materials databases

DNASU150275.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000249064; ENSP00000249064; ENSG00000159873. [Q8IWD4-1]
ENST00000421503; ENSP00000387827; ENSG00000159873.
ENST00000448492; ENSP00000389478; ENSG00000159873.
GeneID150275.
KEGGhsa:150275.
UCSCuc003aeb.3. human. [Q8IWD4-1]

Organism-specific databases

CTD150275.
GeneCardsGC22P029168.
HGNCHGNC:26599. CCDC117.
HPAHPA000826.
neXtProtNX_Q8IWD4.
PharmGKBPA145149315.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44516.
HOGENOMHOG000012995.
HOVERGENHBG081030.
InParanoidQ8IWD4.
OMAPQCEVAR.
OrthoDBEOG7KM5W5.
PhylomeDBQ8IWD4.
TreeFamTF335674.

Gene expression databases

ArrayExpressQ8IWD4.
BgeeQ8IWD4.
CleanExHS_CCDC117.
GenevestigatorQ8IWD4.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCCDC117. human.
GenomeRNAi150275.
NextBio35479081.
PROQ8IWD4.

Entry information

Entry nameCC117_HUMAN
AccessionPrimary (citable) accession number: Q8IWD4
Secondary accession number(s): A8K0F1 expand/collapse secondary AC list , B7Z2V1, B7Z860, Q6ICA7, Q8N278
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM