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Q8IY82

- CC135_HUMAN

UniProt

Q8IY82 - CC135_HUMAN

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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

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
Complete GO annotation...

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. cytoplasm Source: LIFEdb
  2. motile cilium Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ8IY82.
CleanExiHS_CCDC135.
ExpressionAtlasiQ8IY82. baseline and differential.
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.
GeneTreeiENSGT00390000004913.
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

        10         20         30         40         50
MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR
60 70 80 90 100
DLEKKLSEIQ ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN
110 120 130 140 150
FSRQYSHLCP DRVPLFLHPL NECEVPKFVS TTLRPTLMPY PELYNWDSCA
160 170 180 190 200
QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK YQKGNCFDFS TLLCSMLIGS
210 220 230 240 250
GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK VLPKKYTIKP
260 270 280 290 300
PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR
310 320 330 340 350
VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN
360 370 380 390 400
MQDCWNCCKD LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE
410 420 430 440 450
NLGKEDEDKS FDMPHSWVEQ IEISPEAFET RCPNGKKVIQ YKRAKLEKWA
460 470 480 490 500
PYLNSNGLVS RLTTYEDLQC TNILEIKEWY QNREDMLELK HINKTTDLKT
510 520 530 540 550
DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK REETPRTMTE
560 570 580 590 600
YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA
610 620 630 640 650
EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT
660 670 680 690 700
PDMCISFEVE PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL
710 720 730 740 750
KLREEEEAAH TLTISIYDTK RNEKSKEYRE AMERMMHEEH LRQVETQLDY
760 770 780 790 800
LAPFLAQLPP GEKLTCWQAV RLKDECLSDF KQRLINKANL IQARFEKETQ
810 820 830 840 850
ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ RLNRHKELAP
860 870
LKYLALEEKL YKDPRLGELQ KIFA
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:
EMBLi
GenBanki
DDBJi
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]
CCDS73894.1. [Q8IY82-2]
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:
EMBLi
GenBanki
DDBJi
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 ]
CCDS73894.1. [Q8IY82-2 ]
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.
GeneTreei ENSGT00390000004913.
HOGENOMi HOG000007476.
HOVERGENi HBG107597.
InParanoidi Q8IY82.
OMAi LLYQYET.
OrthoDBi EOG7VB2DW.
PhylomeDBi Q8IY82.
TreeFami TF323665.

Miscellaneous databases

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

Gene expression databases

Bgeei Q8IY82.
CleanExi HS_CCDC135.
ExpressionAtlasi Q8IY82. baseline and differential.
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: November 26, 2014
This is version 88 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