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Q8IY82 (CC135_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein lobo homolog
Alternative name(s):
Coiled-coil domain-containing protein 135
Gene names
Name:CCDC135
Synonyms:C16orf50
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length874 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Plays a role in the regulation of germ cells differentiation during spermatogenesis, particularly during meiosis and spermiogenesis. May be involved in sperm motility By similarity.

Subcellular location

Cell projectionciliumflagellum By similarity.

Sequence similarities

Belongs to the CCDC135 family.

Ontologies

Keywords
   Biological processDifferentiation
Spermatogenesis
   Cellular componentCell projection
Cilium
Flagellum
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

spermatogenesis

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcilium

Inferred from electronic annotation. Source: UniProtKB-KW

cytoplasm

Inferred from direct assay. Source: LIFEdb

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IY82-1)

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: Q8IY82-2)

The sequence of this isoform differs from the canonical sequence as follows:
     169-233: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 874874Coiled-coil domain-containing protein lobo homolog
PRO_0000279434

Regions

Coiled coil1 – 6767 Potential
Coiled coil257 – 29741 Potential
Coiled coil688 – 71124 Potential
Coiled coil781 – 80727 Potential

Natural variations

Alternative sequence169 – 23365Missing in isoform 2.
VSP_023438
Natural variant511D → N.
Corresponds to variant rs55645458 [ dbSNP | Ensembl ].
VAR_061580
Natural variant1201L → M.
Corresponds to variant rs11649000 [ dbSNP | Ensembl ].
VAR_050738
Natural variant1861C → S. Ref.3
Corresponds to variant rs7196016 [ dbSNP | Ensembl ].
VAR_030898
Natural variant2411V → E.
Corresponds to variant rs58373934 [ dbSNP | Ensembl ].
VAR_061581
Natural variant4331P → L. Ref.3
Corresponds to variant rs3809611 [ dbSNP | Ensembl ].
VAR_030899
Natural variant5211P → H. Ref.3
Corresponds to variant rs17853687 [ dbSNP | Ensembl ].
VAR_055286
Natural variant5811N → K.
Corresponds to variant rs2923144 [ dbSNP | Ensembl ].
VAR_030900
Natural variant7661C → R. Ref.4
Corresponds to variant rs2923147 [ dbSNP | Ensembl ].
VAR_030901

Experimental info

Sequence conflict4401Q → R in BAC04026. Ref.1

Sequences

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

Last modified January 11, 2011. Version 3.
Checksum: 14838304EFD10EC5

FASTA874103,497
        10         20         30         40         50         60 
MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR DLEKKLSEIQ 

        70         80         90        100        110        120 
ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN FSRQYSHLCP DRVPLFLHPL 

       130        140        150        160        170        180 
NECEVPKFVS TTLRPTLMPY PELYNWDSCA QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK 

       190        200        210        220        230        240 
YQKGNCFDFS TLLCSMLIGS GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK 

       250        260        270        280        290        300 
VLPKKYTIKP PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR 

       310        320        330        340        350        360 
VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN MQDCWNCCKD 

       370        380        390        400        410        420 
LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE NLGKEDEDKS FDMPHSWVEQ 

       430        440        450        460        470        480 
IEISPEAFET RCPNGKKVIQ YKRAKLEKWA PYLNSNGLVS RLTTYEDLQC TNILEIKEWY 

       490        500        510        520        530        540 
QNREDMLELK HINKTTDLKT DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK 

       550        560        570        580        590        600 
REETPRTMTE YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA 

       610        620        630        640        650        660 
EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT PDMCISFEVE 

       670        680        690        700        710        720 
PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL KLREEEEAAH TLTISIYDTK 

       730        740        750        760        770        780 
RNEKSKEYRE AMERMMHEEH LRQVETQLDY LAPFLAQLPP GEKLTCWQAV RLKDECLSDF 

       790        800        810        820        830        840 
KQRLINKANL IQARFEKETQ ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ 

       850        860        870 
RLNRHKELAP LKYLALEEKL YKDPRLGELQ KIFA 

« Hide

Isoform 2 [UniParc].

Checksum: 7A13193C1538EC7A
Show »

FASTA80996,300

References

[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. 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 AND 2).
Tissue: Testis.
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [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] (ISOFORM 1), VARIANTS SER-186; LEU-433 AND HIS-521.
Tissue: Testis.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 573-874, VARIANT ARG-766.
Tissue: Testis.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK093035 mRNA. Translation: BAC04026.1.
AK292558 mRNA. Translation: BAF85247.1.
AC018552 Genomic DNA. No translation available.
BC036667 mRNA. Translation: AAH36667.1.
AL136907 mRNA. Translation: CAB66841.2.
CCDSCCDS10787.1. [Q8IY82-1]
RefSeqNP_001276091.1. NM_001289162.1. [Q8IY82-1]
NP_001276092.1. NM_001289163.1. [Q8IY82-2]
NP_115645.4. NM_032269.5. [Q8IY82-1]
UniGeneHs.513635.

3D structure databases

ProteinModelPortalQ8IY82.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4712863.
STRING9606.ENSP00000353942.

PTM databases

PhosphoSiteQ8IY82.

Polymorphism databases

DMDM317373462.

Proteomic databases

PaxDbQ8IY82.
PRIDEQ8IY82.

Protocols and materials databases

DNASU84229.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336825; ENSP00000338938; ENSG00000159625. [Q8IY82-2]
ENST00000360716; ENSP00000353942; ENSG00000159625. [Q8IY82-1]
ENST00000394337; ENSP00000377869; ENSG00000159625. [Q8IY82-1]
GeneID84229.
KEGGhsa:84229.
UCSCuc002emi.3. human. [Q8IY82-1]
uc002emk.3. human. [Q8IY82-2]

Organism-specific databases

CTD84229.
GeneCardsGC16P057728.
HGNCHGNC:25289. CCDC135.
HPAHPA041521.
neXtProtNX_Q8IY82.
PharmGKBPA162381380.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76407.
HOGENOMHOG000007476.
HOVERGENHBG107597.
InParanoidQ8IY82.
OMALLYQYET.
OrthoDBEOG7VB2DW.
PhylomeDBQ8IY82.
TreeFamTF323665.

Gene expression databases

ArrayExpressQ8IY82.
BgeeQ8IY82.
CleanExHS_CCDC135.
GenevestigatorQ8IY82.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCCDC135. human.
GeneWikiCoiled-coil_domain-containing_protein_135.
GenomeRNAi84229.
NextBio73682.
PROQ8IY82.

Entry information

Entry nameCC135_HUMAN
AccessionPrimary (citable) accession number: Q8IY82
Secondary accession number(s): A8K943, Q8NAA0, Q9H080
Entry history
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 85 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

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 16

Human chromosome 16: entries, gene names and cross-references to MIM