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Q8IWD4

- CC117_HUMAN

UniProt

Q8IWD4 - CC117_HUMAN

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Protein

Coiled-coil domain-containing protein 117

Gene

CCDC117

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 117
Gene namesi
Name:CCDC117
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:26599. CCDC117.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145149315.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 279279Coiled-coil domain-containing protein 117PRO_0000254138Add
BLAST

Proteomic databases

MaxQBiQ8IWD4.
PaxDbiQ8IWD4.
PRIDEiQ8IWD4.

PTM databases

PhosphoSiteiQ8IWD4.

Expressioni

Gene expression databases

BgeeiQ8IWD4.
CleanExiHS_CCDC117.
ExpressionAtlasiQ8IWD4. baseline and differential.
GenevestigatoriQ8IWD4.

Organism-specific databases

HPAiHPA000826.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90AA1P079005EBI-3387963,EBI-296047
STIP1P319482EBI-3387963,EBI-1054052

Protein-protein interaction databases

BioGridi127277. 10 interactions.
IntActiQ8IWD4. 7 interactions.
STRINGi9606.ENSP00000249064.

Structurei

3D structure databases

ProteinModelPortaliQ8IWD4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili141 – 16828Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG44516.
GeneTreeiENSGT00390000005772.
HOGENOMiHOG000012995.
HOVERGENiHBG081030.
InParanoidiQ8IWD4.
OMAiPQCEVAR.
OrthoDBiEOG7KM5W5.
PhylomeDBiQ8IWD4.
TreeFamiTF335674.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IWD4-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAALGRPFSG LPLSGGSDFL QPPQPAFPGR AFPPGADGAE LAPRPGPRAV
60 70 80 90 100
PSSPAGSAAR GRVSVHCKKK HKREEEEDDD CPVRKKRITE AELCAGPNDW
110 120 130 140 150
ILCAHQDVEG HGVNPSVSGL SIPGILDVIC EEMDQTTGEP QCEVARRKLQ
160 170 180 190 200
EIEDRIIDED EEVEADRNVN HLPSLVLSDT MKTGLKREFD EVFTKKMIES
210 220 230 240 250
MSRPSMELVL WKPLPELLSD KPKPSSNTKN YTGESQAKHV AAGTAFPQRT
260 270
ELFSEPRPTG MSLYNSLETA TSTEEEMEL
Length:279
Mass (Da):30,541
Last modified:March 1, 2003 - v1
Checksum:i97D5FBB76AE5ABFE
GO
Isoform 2 (identifier: Q8IWD4-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:170
Mass (Da):19,092
Checksum:i796444A611D98774
GO
Isoform 3 (identifier: Q8IWD4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-80: Missing.

Note: No experimental confirmation available.

Show »
Length:261
Mass (Da):28,348
Checksum:i3724420956B356F5
GO
Isoform 4 (identifier: Q8IWD4-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-155: DCPVRKKRIT...RRKLQEIEDR → E

Note: No experimental confirmation available.

Show »
Length:204
Mass (Da):22,288
Checksum:iF3C86513751C6696
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti102 – 1021L → P in BAC03592. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti147 – 1471R → S.
Corresponds to variant rs13057011 [ dbSNP | Ensembl ].
VAR_028823
Natural varianti272 – 2721S → N.
Corresponds to variant rs9613680 [ dbSNP | Ensembl ].
VAR_028824

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei12 – 120109Missing in isoform 2. 1 PublicationVSP_021185Add
BLAST
Alternative sequencei63 – 8018Missing in isoform 3. 1 PublicationVSP_054912Add
BLAST
Alternative sequencei80 – 15576DCPVR…EIEDR → E in isoform 4. 1 PublicationVSP_054913Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13846.1. [Q8IWD4-1]
CCDS63435.1. [Q8IWD4-4]
CCDS63436.1. [Q8IWD4-3]
RefSeqiNP_001271192.1. NM_001284263.1. [Q8IWD4-3]
NP_001271193.1. NM_001284264.1. [Q8IWD4-4]
NP_001271194.1. NM_001284265.1.
NP_775781.1. NM_173510.3. [Q8IWD4-1]
UniGeneiHs.406460.

Genome annotation databases

EnsembliENST00000249064; ENSP00000249064; ENSG00000159873. [Q8IWD4-1]
ENST00000421503; ENSP00000387827; ENSG00000159873. [Q8IWD4-4]
ENST00000448492; ENSP00000389478; ENSG00000159873. [Q8IWD4-3]
GeneIDi150275.
KEGGihsa:150275.
UCSCiuc003aeb.3. human. [Q8IWD4-1]

Polymorphism databases

DMDMi74759628.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13846.1. [Q8IWD4-1 ]
CCDS63435.1. [Q8IWD4-4 ]
CCDS63436.1. [Q8IWD4-3 ]
RefSeqi NP_001271192.1. NM_001284263.1. [Q8IWD4-3 ]
NP_001271193.1. NM_001284264.1. [Q8IWD4-4 ]
NP_001271194.1. NM_001284265.1.
NP_775781.1. NM_173510.3. [Q8IWD4-1 ]
UniGenei Hs.406460.

3D structure databases

ProteinModelPortali Q8IWD4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127277. 10 interactions.
IntActi Q8IWD4. 7 interactions.
STRINGi 9606.ENSP00000249064.

PTM databases

PhosphoSitei Q8IWD4.

Polymorphism databases

DMDMi 74759628.

Proteomic databases

MaxQBi Q8IWD4.
PaxDbi Q8IWD4.
PRIDEi Q8IWD4.

Protocols and materials databases

DNASUi 150275.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000249064 ; ENSP00000249064 ; ENSG00000159873 . [Q8IWD4-1 ]
ENST00000421503 ; ENSP00000387827 ; ENSG00000159873 . [Q8IWD4-4 ]
ENST00000448492 ; ENSP00000389478 ; ENSG00000159873 . [Q8IWD4-3 ]
GeneIDi 150275.
KEGGi hsa:150275.
UCSCi uc003aeb.3. human. [Q8IWD4-1 ]

Organism-specific databases

CTDi 150275.
GeneCardsi GC22P029168.
HGNCi HGNC:26599. CCDC117.
HPAi HPA000826.
neXtProti NX_Q8IWD4.
PharmGKBi PA145149315.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44516.
GeneTreei ENSGT00390000005772.
HOGENOMi HOG000012995.
HOVERGENi HBG081030.
InParanoidi Q8IWD4.
OMAi PQCEVAR.
OrthoDBi EOG7KM5W5.
PhylomeDBi Q8IWD4.
TreeFami TF335674.

Miscellaneous databases

ChiTaRSi CCDC117. human.
GenomeRNAii 150275.
NextBioi 35479081.
PROi Q8IWD4.

Gene expression databases

Bgeei Q8IWD4.
CleanExi HS_CCDC117.
ExpressionAtlasi Q8IWD4. baseline and differential.
Genevestigatori Q8IWD4.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. 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] (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.
    , 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. 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.

Entry informationi

Entry nameiCC117_HUMAN
AccessioniPrimary (citable) accession number: Q8IWD4
Secondary accession number(s): A8K0F1
, B7Z2V1, B7Z860, Q6ICA7, Q8N278
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 1, 2003
Last modified: October 29, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3