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Q8IY82

- CC135_HUMAN

UniProt

Q8IY82 - CC135_HUMAN

Protein

Coiled-coil domain-containing protein lobo homolog

Gene

CCDC135

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. spermatogenesis Source: UniProtKB-KW

    Keywords - Biological processi

    Differentiation, Spermatogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein lobo homolog
    Alternative name(s):
    Coiled-coil domain-containing protein 135
    Gene namesi
    Name:CCDC135
    Synonyms:C16orf50
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:25289. CCDC135.

    Subcellular locationi

    Cell projectionciliumflagellum By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB-KW
    2. cytoplasm Source: LIFEdb

    Keywords - Cellular componenti

    Cell projection, Cilium, Flagellum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162381380.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 874874Coiled-coil domain-containing protein lobo homologPRO_0000279434Add
    BLAST

    Proteomic databases

    PaxDbiQ8IY82.
    PRIDEiQ8IY82.

    PTM databases

    PhosphoSiteiQ8IY82.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IY82.
    BgeeiQ8IY82.
    CleanExiHS_CCDC135.
    GenevestigatoriQ8IY82.

    Organism-specific databases

    HPAiHPA041521.

    Interactioni

    Protein-protein interaction databases

    MINTiMINT-4712863.
    STRINGi9606.ENSP00000353942.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IY82.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1 – 6767Sequence AnalysisAdd
    BLAST
    Coiled coili257 – 29741Sequence AnalysisAdd
    BLAST
    Coiled coili688 – 71124Sequence AnalysisAdd
    BLAST
    Coiled coili781 – 80727Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC135 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG76407.
    HOGENOMiHOG000007476.
    HOVERGENiHBG107597.
    InParanoidiQ8IY82.
    OMAiLLYQYET.
    OrthoDBiEOG7VB2DW.
    PhylomeDBiQ8IY82.
    TreeFamiTF323665.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IY82-1) [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

    MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR    50
    DLEKKLSEIQ ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN 100
    FSRQYSHLCP DRVPLFLHPL NECEVPKFVS TTLRPTLMPY PELYNWDSCA 150
    QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK YQKGNCFDFS TLLCSMLIGS 200
    GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK VLPKKYTIKP 250
    PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR 300
    VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN 350
    MQDCWNCCKD LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE 400
    NLGKEDEDKS FDMPHSWVEQ IEISPEAFET RCPNGKKVIQ YKRAKLEKWA 450
    PYLNSNGLVS RLTTYEDLQC TNILEIKEWY QNREDMLELK HINKTTDLKT 500
    DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK REETPRTMTE 550
    YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA 600
    EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT 650
    PDMCISFEVE PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL 700
    KLREEEEAAH TLTISIYDTK RNEKSKEYRE AMERMMHEEH LRQVETQLDY 750
    LAPFLAQLPP GEKLTCWQAV RLKDECLSDF KQRLINKANL IQARFEKETQ 800
    ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ RLNRHKELAP 850
    LKYLALEEKL YKDPRLGELQ KIFA 874
    Length:874
    Mass (Da):103,497
    Last modified:January 11, 2011 - v3
    Checksum:i14838304EFD10EC5
    GO
    Isoform 2 (identifier: Q8IY82-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:809
    Mass (Da):96,300
    Checksum:i7A13193C1538EC7A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti440 – 4401Q → R in BAC04026. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511D → N.
    Corresponds to variant rs55645458 [ dbSNP | Ensembl ].
    VAR_061580
    Natural varianti120 – 1201L → M.
    Corresponds to variant rs11649000 [ dbSNP | Ensembl ].
    VAR_050738
    Natural varianti186 – 1861C → S.1 Publication
    Corresponds to variant rs7196016 [ dbSNP | Ensembl ].
    VAR_030898
    Natural varianti241 – 2411V → E.
    Corresponds to variant rs58373934 [ dbSNP | Ensembl ].
    VAR_061581
    Natural varianti433 – 4331P → L.1 Publication
    Corresponds to variant rs3809611 [ dbSNP | Ensembl ].
    VAR_030899
    Natural varianti521 – 5211P → H.1 Publication
    Corresponds to variant rs17853687 [ dbSNP | Ensembl ].
    VAR_055286
    Natural varianti581 – 5811N → K.
    Corresponds to variant rs2923144 [ dbSNP | Ensembl ].
    VAR_030900
    Natural varianti766 – 7661C → R.1 Publication
    Corresponds to variant rs2923147 [ dbSNP | Ensembl ].
    VAR_030901

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei169 – 23365Missing in isoform 2. 1 PublicationVSP_023438Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS10787.1. [Q8IY82-1]
    RefSeqiNP_001276091.1. NM_001289162.1. [Q8IY82-1]
    NP_001276092.1. NM_001289163.1. [Q8IY82-2]
    NP_115645.4. NM_032269.5. [Q8IY82-1]
    UniGeneiHs.513635.

    Genome annotation databases

    EnsembliENST00000336825; ENSP00000338938; ENSG00000159625. [Q8IY82-2]
    ENST00000360716; ENSP00000353942; ENSG00000159625. [Q8IY82-1]
    ENST00000394337; ENSP00000377869; ENSG00000159625. [Q8IY82-1]
    GeneIDi84229.
    KEGGihsa:84229.
    UCSCiuc002emi.3. human. [Q8IY82-1]
    uc002emk.3. human. [Q8IY82-2]

    Polymorphism databases

    DMDMi317373462.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS10787.1. [Q8IY82-1 ]
    RefSeqi NP_001276091.1. NM_001289162.1. [Q8IY82-1 ]
    NP_001276092.1. NM_001289163.1. [Q8IY82-2 ]
    NP_115645.4. NM_032269.5. [Q8IY82-1 ]
    UniGenei Hs.513635.

    3D structure databases

    ProteinModelPortali Q8IY82.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4712863.
    STRINGi 9606.ENSP00000353942.

    PTM databases

    PhosphoSitei Q8IY82.

    Polymorphism databases

    DMDMi 317373462.

    Proteomic databases

    PaxDbi Q8IY82.
    PRIDEi Q8IY82.

    Protocols and materials databases

    DNASUi 84229.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336825 ; ENSP00000338938 ; ENSG00000159625 . [Q8IY82-2 ]
    ENST00000360716 ; ENSP00000353942 ; ENSG00000159625 . [Q8IY82-1 ]
    ENST00000394337 ; ENSP00000377869 ; ENSG00000159625 . [Q8IY82-1 ]
    GeneIDi 84229.
    KEGGi hsa:84229.
    UCSCi uc002emi.3. human. [Q8IY82-1 ]
    uc002emk.3. human. [Q8IY82-2 ]

    Organism-specific databases

    CTDi 84229.
    GeneCardsi GC16P057728.
    HGNCi HGNC:25289. CCDC135.
    HPAi HPA041521.
    neXtProti NX_Q8IY82.
    PharmGKBi PA162381380.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG76407.
    HOGENOMi HOG000007476.
    HOVERGENi HBG107597.
    InParanoidi Q8IY82.
    OMAi LLYQYET.
    OrthoDBi EOG7VB2DW.
    PhylomeDBi Q8IY82.
    TreeFami TF323665.

    Miscellaneous databases

    ChiTaRSi CCDC135. human.
    GeneWikii Coiled-coil_domain-containing_protein_135.
    GenomeRNAii 84229.
    NextBioi 73682.
    PROi Q8IY82.

    Gene expression databases

    ArrayExpressi Q8IY82.
    Bgeei Q8IY82.
    CleanExi HS_CCDC135.
    Genevestigatori Q8IY82.

    Family and domain databases

    ProtoNeti Search...

    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).
      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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 573-874, VARIANT ARG-766.
      Tissue: Testis.

    Entry informationi

    Entry nameiCC135_HUMAN
    AccessioniPrimary (citable) accession number: Q8IY82
    Secondary accession number(s): A8K943, Q8NAA0, Q9H080
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 6, 2007
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 86 of the entry and version 3 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 16
      Human chromosome 16: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3