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Protein

Coiled-coil domain-containing protein 17

Gene

CCDC17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 17
Gene namesi
Name:CCDC17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26574. CCDC17.

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiCCDC17.
DMDMi302393684.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 622622Coiled-coil domain-containing protein 17PRO_0000302852Add
BLAST

Proteomic databases

EPDiQ96LX7.
MaxQBiQ96LX7.
PaxDbiQ96LX7.
PRIDEiQ96LX7.

Expressioni

Gene expression databases

BgeeiQ96LX7.
CleanExiHS_CCDC17.
ExpressionAtlasiQ96LX7. baseline and differential.
GenevisibleiQ96LX7. HS.

Organism-specific databases

HPAiHPA028338.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-719840,EBI-618309
KRT31Q153233EBI-719840,EBI-948001
MTUS2Q5JR593EBI-719840,EBI-742948

Protein-protein interaction databases

BioGridi127219. 4 interactions.
IntActiQ96LX7. 5 interactions.
STRINGi9606.ENSP00000432172.

Structurei

3D structure databases

ProteinModelPortaliQ96LX7.
SMRiQ96LX7. Positions 84-112.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili81 – 10222Sequence analysisAdd
BLAST
Coiled coili146 – 20762Sequence analysisAdd
BLAST
Coiled coili294 – 32027Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi343 – 36624Pro-richAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IXRK. Eukaryota.
ENOG4111MM2. LUCA.
GeneTreeiENSGT00390000006459.
HOVERGENiHBG106753.
InParanoidiQ96LX7.
OMAiTEEVQWL.
OrthoDBiEOG712TZG.
PhylomeDBiQ96LX7.
TreeFamiTF335390.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96LX7-4) [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
MDSHSGEPAL LPCGTCDMVF RSSALLATHT QRFCIGHPTQ EMTFGAQASV
60 70 80 90 100
ATEPQRAAVV PQEHQGVPQE PQGLPDQQAS RSALKRLTEE VQWLRLSLQE
110 120 130 140 150
MRPWITEVPR VFAGPWTRSE ARPQSPMSEA VGSPSERLRA LFRTRARRVA
160 170 180 190 200
EMEAQSRALQ LRGEELSRRL QVVACTRGGM SRLFGLEQEI RELQAEAGRT
210 220 230 240 250
RGALEVLGAR IQELQAEPGN PLSSRREAEL YSPVQKANPG TLAAEIRALR
260 270 280 290 300
EAYIRDGGRD PGVLGQIWQL QVEASALELQ RSQTRRGRAG ATSGELPVVE
310 320 330 340 350
AENRRLEAEI LALQMQRGRA PLGPQDLRLL GDASLQPKGR RDPPLLPPPV
360 370 380 390 400
APPLPPLPGF SEPQLPGTMT RNLGLDSHFL LPTSDMLGPA PYDPGAGLVI
410 420 430 440 450
FYDFLRGLEA SWIWVQLRTG LARDGRDTGR TTALPPALCL PPPPAPGPMG
460 470 480 490 500
NCAILASRQP VPRLPPSSSV SLVCELQVWQ GLAWARAPQP KAWVSLGLFD
510 520 530 540 550
QDQRVLSGRW RLPLRALPLD PSLSLGQLNG IPQAGQAELF LRLVNARDAA
560 570 580 590 600
VQTLAEINPA SVHEYQYPPP VSSTSSLEAS FLTPAVGFAD PPPRTEEPLS
610 620
GVKDRDEGLG PHHSSDLPPV SF
Note: No experimental confirmation available.
Length:622
Mass (Da):67,721
Last modified:August 10, 2010 - v2
Checksum:iA48A40C2229C37E0
GO
Isoform 2 (identifier: Q96LX7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-99: Missing.

Note: No experimental confirmation available.
Show »
Length:613
Mass (Da):66,597
Checksum:i145B9AF19DCB937D
GO
Isoform 3 (identifier: Q96LX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-179: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:443
Mass (Da):47,827
Checksum:iDF68100E53A5CCC4
GO
Isoform 4 (identifier: Q96LX7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-571: Missing.

Note: No experimental confirmation available.
Show »
Length:110
Mass (Da):11,565
Checksum:i1A40F6416B9DE091
GO

Sequence cautioni

The sequence BAB71539.1 differs from that shown.Incompletely spliced mRNA.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411E → V in BAB71539 (PubMed:14702039).Curated
Sequence conflicti74 – 741L → P in BAG64867 (PubMed:14702039).Curated
Sequence conflicti417 – 4171L → E in AAH29888 (PubMed:15489334).Curated
Sequence conflicti420 – 4212GL → AS in AAH29888 (PubMed:15489334).Curated
Sequence conflicti423 – 4253RDG → HAA in AAH29888 (PubMed:15489334).Curated
Sequence conflicti439 – 4391C → F in AAH29888 (PubMed:15489334).Curated
Sequence conflicti450 – 4501G → S in AAH29888 (PubMed:15489334).Curated
Sequence conflicti615 – 6151S → F in AAH29888 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531P → L.1 Publication
Corresponds to variant rs3014242 [ dbSNP | Ensembl ].
VAR_034976
Natural varianti470 – 4701V → I.
Corresponds to variant rs17410855 [ dbSNP | Ensembl ].
VAR_059599
Natural varianti557 – 5571I → V.
Corresponds to variant rs2297654 [ dbSNP | Ensembl ].
VAR_034977
Natural varianti580 – 5801S → N.2 Publications
Corresponds to variant rs3014246 [ dbSNP | Ensembl ].
VAR_063516

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 179179Missing in isoform 3. 1 PublicationVSP_039651Add
BLAST
Alternative sequencei60 – 571512Missing in isoform 4. 1 PublicationVSP_039652Add
BLAST
Alternative sequencei91 – 999Missing in isoform 2. 1 PublicationVSP_039653

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057646 mRNA. Translation: BAB71539.1. Sequence problems.
AK298104 mRNA. Translation: BAG60389.1.
AK303939 mRNA. Translation: BAG64867.1.
AL355480 Genomic DNA. Translation: CAI22466.1.
BC029888 mRNA. Translation: AAH29888.1.
BC128177 mRNA. Translation: AAI28178.1.
BC128178 mRNA. Translation: AAI28179.2.
CCDSiCCDS44131.2. [Q96LX7-4]
CCDS53314.1. [Q96LX7-5]
RefSeqiNP_001108410.2. NM_001114938.2. [Q96LX7-4]
NP_001177111.1. NM_001190182.1. [Q96LX7-5]
UniGeneiHs.18912.

Genome annotation databases

EnsembliENST00000421127; ENSP00000389415; ENSG00000159588. [Q96LX7-5]
ENST00000445048; ENSP00000411335; ENSG00000159588. [Q96LX7-3]
ENST00000528266; ENSP00000432172; ENSG00000159588. [Q96LX7-4]
GeneIDi149483.
KEGGihsa:149483.
UCSCiuc009vxz.4. human. [Q96LX7-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057646 mRNA. Translation: BAB71539.1. Sequence problems.
AK298104 mRNA. Translation: BAG60389.1.
AK303939 mRNA. Translation: BAG64867.1.
AL355480 Genomic DNA. Translation: CAI22466.1.
BC029888 mRNA. Translation: AAH29888.1.
BC128177 mRNA. Translation: AAI28178.1.
BC128178 mRNA. Translation: AAI28179.2.
CCDSiCCDS44131.2. [Q96LX7-4]
CCDS53314.1. [Q96LX7-5]
RefSeqiNP_001108410.2. NM_001114938.2. [Q96LX7-4]
NP_001177111.1. NM_001190182.1. [Q96LX7-5]
UniGeneiHs.18912.

3D structure databases

ProteinModelPortaliQ96LX7.
SMRiQ96LX7. Positions 84-112.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127219. 4 interactions.
IntActiQ96LX7. 5 interactions.
STRINGi9606.ENSP00000432172.

Polymorphism and mutation databases

BioMutaiCCDC17.
DMDMi302393684.

Proteomic databases

EPDiQ96LX7.
MaxQBiQ96LX7.
PaxDbiQ96LX7.
PRIDEiQ96LX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000421127; ENSP00000389415; ENSG00000159588. [Q96LX7-5]
ENST00000445048; ENSP00000411335; ENSG00000159588. [Q96LX7-3]
ENST00000528266; ENSP00000432172; ENSG00000159588. [Q96LX7-4]
GeneIDi149483.
KEGGihsa:149483.
UCSCiuc009vxz.4. human. [Q96LX7-4]

Organism-specific databases

CTDi149483.
GeneCardsiCCDC17.
HGNCiHGNC:26574. CCDC17.
HPAiHPA028338.
neXtProtiNX_Q96LX7.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXRK. Eukaryota.
ENOG4111MM2. LUCA.
GeneTreeiENSGT00390000006459.
HOVERGENiHBG106753.
InParanoidiQ96LX7.
OMAiTEEVQWL.
OrthoDBiEOG712TZG.
PhylomeDBiQ96LX7.
TreeFamiTF335390.

Miscellaneous databases

GenomeRNAii149483.
NextBioi86181.
PROiQ96LX7.

Gene expression databases

BgeeiQ96LX7.
CleanExiHS_CCDC17.
ExpressionAtlasiQ96LX7. baseline and differential.
GenevisibleiQ96LX7. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

  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 1 AND 2), VARIANTS LEU-353 AND ASN-580.
    Tissue: Trachea.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 3 AND 4), VARIANT ASN-580.
    Tissue: Brain.

Entry informationi

Entry nameiCCD17_HUMAN
AccessioniPrimary (citable) accession number: Q96LX7
Secondary accession number(s): A1A4Y7
, B4DNX7, B4E1Q5, C9J8L2, Q0P683, Q5T629
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: August 10, 2010
Last modified: March 16, 2016
This is version 89 of the entry and version 2 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 1
    Human chromosome 1: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.