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Protein

Coiled-coil domain-containing protein 65

Gene

CCDC65

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

Functioni

May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 65
Alternative name(s):
Testis development protein NYD-SP28
Gene namesi
Name:CCDC65
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29937. CCDC65.

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 27 (CILD27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:615504

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MalaCardsiCCDC65.
MIMi615504. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA143485417.

Polymorphism and mutation databases

BioMutaiCCDC65.
DMDMi74728229.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 484484Coiled-coil domain-containing protein 65PRO_0000284778Add
BLAST

Proteomic databases

MaxQBiQ8IXS2.
PaxDbiQ8IXS2.
PRIDEiQ8IXS2.

PTM databases

iPTMnetiQ8IXS2.
PhosphoSiteiQ8IXS2.

Expressioni

Tissue specificityi

Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level).1 Publication

Gene expression databases

BgeeiQ8IXS2.
CleanExiHS_CCDC65.
ExpressionAtlasiQ8IXS2. baseline and differential.
GenevisibleiQ8IXS2. HS.

Organism-specific databases

HPAiHPA038520.

Interactioni

Protein-protein interaction databases

BioGridi124553. 5 interactions.
STRINGi9606.ENSP00000312706.

Structurei

3D structure databases

ProteinModelPortaliQ8IXS2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili92 – 16069Sequence analysisAdd
BLAST
Coiled coili374 – 40330Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC65 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IE4Y. Eukaryota.
ENOG410XQTS. LUCA.
GeneTreeiENSGT00730000111193.
HOGENOMiHOG000059628.
HOVERGENiHBG103693.
InParanoidiQ8IXS2.
OMAiIIEAAHV.
OrthoDBiEOG76DTSZ.
PhylomeDBiQ8IXS2.
TreeFamiTF326074.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IXS2-1) [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
MPKKEKMAKT PLSDEKQLLL FQQKLLAEEE MAKKKERLLS QFLKDKLAKE
60 70 80 90 100
EHNSALNLNK INTQWRTVLR EVKTRELHKD IEILSQTFER VVDCKDNVIK
110 120 130 140 150
SLAKDLSEAE EQYAHALRSH LHNVDQLLAL QRHRLSLLEE SYNMELEALT
160 170 180 190 200
KEFETERKTI IDQHEKEIHY LQDIFMAMEQ NYIDSEYESK LEFQSMWNDL
210 220 230 240 250
KNMNLEEKHF LRLHLENRVE DLWRKFQDVL KNYTDATEDR KAAFETLQVK
260 270 280 290 300
DEKSSKEIEV QMKKIQKLQD AITISKGKIM IHSRESEDEN RYIRNDKELV
310 320 330 340 350
LVQLRKLKAQ RTQARAASQK NLVRLTLESN ATLKALRKIV DKGEKILKLA
360 370 380 390 400
EICRKFETEE EKVLPFYSSV LTPKEQEGIQ KNNLEELTEE LTKVMVDYIG
410 420 430 440 450
MENFWKRYNK VKLEQLSLQH RRAQLLDING KLREMLKQYL DGISVSDEVL
460 470 480
SQLNPLFIVN YQSNLLQPLS IRIAHPGDKQ HPTT
Length:484
Mass (Da):57,297
Last modified:March 1, 2004 - v2
Checksum:i8B3E8E676512AAF2
GO
Isoform 2 (identifier: Q8IXS2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-484: DKQHPTT → STSPSAPWRDQRRSFFLGSS

Note: No experimental confirmation available.
Show »
Length:497
Mass (Da):58,740
Checksum:i8FC23EA8D83AA456
GO

Sequence cautioni

The sequence BAC05324.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1641H → R in BAC04035 (PubMed:14702039).Curated
Sequence conflicti202 – 2021N → D in AAK60542 (PubMed:17089017).Curated
Sequence conflicti242 – 2421A → T in AAK60542 (PubMed:17089017).Curated
Sequence conflicti308 – 3081K → E in BAC05324 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331H → R.
Corresponds to variant rs10747556 [ dbSNP | Ensembl ].
VAR_056780
Natural varianti408 – 4081Y → C.
Corresponds to variant rs4760600 [ dbSNP | Ensembl ].
VAR_056781

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei478 – 4847DKQHPTT → STSPSAPWRDQRRSFFLGSS in isoform 2. 1 PublicationVSP_024644

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF382188 mRNA. Translation: AAK60542.1.
AK093051 mRNA. Translation: BAC04035.1.
AK098529 mRNA. Translation: BAC05324.1. Different initiation.
AK314623 mRNA. Translation: BAG37189.1.
AC073610 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58020.1.
CH471111 Genomic DNA. Translation: EAW58021.1.
BC039317 mRNA. Translation: AAH39317.2.
CCDSiCCDS8772.1. [Q8IXS2-1]
RefSeqiNP_149115.2. NM_033124.4. [Q8IXS2-1]
UniGeneiHs.512805.

Genome annotation databases

EnsembliENST00000266984; ENSP00000266984; ENSG00000139537. [Q8IXS2-2]
ENST00000320516; ENSP00000312706; ENSG00000139537. [Q8IXS2-1]
GeneIDi85478.
KEGGihsa:85478.
UCSCiuc001rso.4. human. [Q8IXS2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF382188 mRNA. Translation: AAK60542.1.
AK093051 mRNA. Translation: BAC04035.1.
AK098529 mRNA. Translation: BAC05324.1. Different initiation.
AK314623 mRNA. Translation: BAG37189.1.
AC073610 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58020.1.
CH471111 Genomic DNA. Translation: EAW58021.1.
BC039317 mRNA. Translation: AAH39317.2.
CCDSiCCDS8772.1. [Q8IXS2-1]
RefSeqiNP_149115.2. NM_033124.4. [Q8IXS2-1]
UniGeneiHs.512805.

3D structure databases

ProteinModelPortaliQ8IXS2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124553. 5 interactions.
STRINGi9606.ENSP00000312706.

PTM databases

iPTMnetiQ8IXS2.
PhosphoSiteiQ8IXS2.

Polymorphism and mutation databases

BioMutaiCCDC65.
DMDMi74728229.

Proteomic databases

MaxQBiQ8IXS2.
PaxDbiQ8IXS2.
PRIDEiQ8IXS2.

Protocols and materials databases

DNASUi85478.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266984; ENSP00000266984; ENSG00000139537. [Q8IXS2-2]
ENST00000320516; ENSP00000312706; ENSG00000139537. [Q8IXS2-1]
GeneIDi85478.
KEGGihsa:85478.
UCSCiuc001rso.4. human. [Q8IXS2-1]

Organism-specific databases

CTDi85478.
GeneCardsiCCDC65.
HGNCiHGNC:29937. CCDC65.
HPAiHPA038520.
MalaCardsiCCDC65.
MIMi611088. gene.
615504. phenotype.
neXtProtiNX_Q8IXS2.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA143485417.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE4Y. Eukaryota.
ENOG410XQTS. LUCA.
GeneTreeiENSGT00730000111193.
HOGENOMiHOG000059628.
HOVERGENiHBG103693.
InParanoidiQ8IXS2.
OMAiIIEAAHV.
OrthoDBiEOG76DTSZ.
PhylomeDBiQ8IXS2.
TreeFamiTF326074.

Miscellaneous databases

GenomeRNAii85478.
PROiQ8IXS2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IXS2.
CleanExiHS_CCDC65.
ExpressionAtlasiQ8IXS2. baseline and differential.
GenevisibleiQ8IXS2. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel sperm tail protein, NYD-SP28."
    Zheng Y., Zhang J., Wang L., Zhou Z., Xu M., Li J., Sha J.-H.
    Int. J. Mol. Med. 18:1119-1125(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Testis.
  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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-484 (ISOFORM 2).
    Tissue: Testis.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [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.
  6. Cited for: FUNCTION, INVOLVEMENT IN CILD27.

Entry informationi

Entry nameiCCD65_HUMAN
AccessioniPrimary (citable) accession number: Q8IXS2
Secondary accession number(s): A6NJG5
, B2RBE2, Q8N7G4, Q8NA91, Q96JA0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: March 1, 2004
Last modified: June 8, 2016
This is version 94 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 12
    Human chromosome 12: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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.