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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, C16orf50
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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.

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. cilium Source: UniProtKB-KW
  2. cytoplasm Source: LIFEdb
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 homolog
PRO_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.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1 – 6767 Reviewed prediction
Add
BLAST
Coiled coili257 – 29741 Reviewed prediction
Add
BLAST
Coiled coili688 – 71124 Reviewed prediction
Add
BLAST
Coiled coili781 – 80727 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the CCDC135 family.

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

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.
VSP_023438Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti440 – 4401Q → R in BAC04026. 1 Publication

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...

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: July 9, 2014
This is version 85 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

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