Q8IY82 (CC135_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein lobo homolog

Alternative name(s):
Coiled-coil domain-containing protein 135

Gene names

Name:	CCDC135
Synonyms:	C16orf50

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	874 AA.
Sequence status	Complete.
Protein existence	Evidence 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 projection › cilium › flagellum By similarity.
Sequence similarities	Belongs to the CCDC135 family.

Ontologies

Keywords
Biological process	Differentiation Flagellar rotation Spermatogenesis
Cellular component	Cell projection Cilium Flagellum
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW ciliary or flagellar motility Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cilium 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 874	874	Coiled-coil domain-containing protein lobo homolog		PRO_0000279434
Regions
	Coiled coil	1 – 67	67	Potential
	Coiled coil	257 – 297	41	Potential
	Coiled coil	688 – 711	24	Potential
	Coiled coil	781 – 807	27	Potential
Natural variations
	Alternative sequence	169 – 233	65	Missing in isoform 2.		VSP_023438
	Natural variant	51	1	D → N. Corresponds to variant rs55645458 [ dbSNP | Ensembl ].		VAR_061580
	Natural variant	120	1	L → M. Corresponds to variant rs11649000 [ dbSNP | Ensembl ].		VAR_050738
	Natural variant	186	1	C → S. Ref.3 Corresponds to variant rs7196016 [ dbSNP | Ensembl ].		VAR_030898
	Natural variant	241	1	V → E. Corresponds to variant rs58373934 [ dbSNP | Ensembl ].		VAR_061581
	Natural variant	433	1	P → L. Ref.3 Corresponds to variant rs3809611 [ dbSNP | Ensembl ].		VAR_030899
	Natural variant	521	1	P → H. Ref.3 Corresponds to variant rs17853687 [ dbSNP | Ensembl ].		VAR_055286
	Natural variant	581	1	N → K. Corresponds to variant rs2923144 [ dbSNP | Ensembl ].		VAR_030900
	Natural variant	766	1	C → R. Ref.4 Corresponds to variant rs2923147 [ dbSNP | Ensembl ].		VAR_030901
Experimental info
	Sequence conflict	440	1	Q → R in BAC04026. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: 14838304EFD10EC5	FASTA	874	103,497
	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
	Isoform 2 [UniParc]. Checksum: 7A13193C1538EC7A	FASTA	809	96,300
	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 PLPDPLKPTI KKEEKVLPKK 190 200 210 220 230 240 YTIKPPRDLC SRFEQEQEVK KQQEIRAQEK KRLREEEERL MEAEKAKPDA LHGLRVHSWV 250 260 270 280 290 300 LVLSGKREVP ENFFIDPFTG HSYSTQDEHF LGIESLWNHK NYWINMQDCW NCCKDLIFDL 310 320 330 340 350 360 GDPVRWEYML LGTDKSQLSL TEEDDSGIND EDDVENLGKE DEDKSFDMPH SWVEQIEISP 370 380 390 400 410 420 EAFETRCPNG KKVIQYKRAK LEKWAPYLNS NGLVSRLTTY EDLQCTNILE IKEWYQNRED 430 440 450 460 470 480 MLELKHINKT TDLKTDYFKP GHPQALRVHS YKSMQPEMDR VIEFYETARV DGLMKREETP 490 500 510 520 530 540 RTMTEYYQGR PDFLSYRHAS FGPRVKKLTL SSAESNPRPI VKITERFFRN PAKPAEEDVA 550 560 570 580 590 600 ERVFLVAEER IQLRYHCRED HITASKREFL RRTEVDSKGN KIIMTPDMCI SFEVEPMEHT 610 620 630 640 650 660 KKLLYQYEAM MHLKREEKLS RHQVWESELE VLEILKLREE EEAAHTLTIS IYDTKRNEKS 670 680 690 700 710 720 KEYREAMERM MHEEHLRQVE TQLDYLAPFL AQLPPGEKLT CWQAVRLKDE CLSDFKQRLI 730 740 750 760 770 780 NKANLIQARF EKETQELQKK QQWYQENQVT LTPEDEDLYL SYCSQAMFRI RILEQRLNRH 790 800 KELAPLKYLA LEEKLYKDPR LGELQKIFA

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. , 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]	"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. , 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.
IPI	IPI00217687. IPI00334796.
RefSeq	NP_115645.4. NM_032269.5.
UniGene	Hs.513635.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000353942.
PTM databases
PhosphoSite	Q8IY82.
Polymorphism databases
DMDM	229462821.
Proteomic databases
PaxDb	Q8IY82.
PRIDE	Q8IY82.
Protocols and materials databases
DNASU	84229.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000336825; ENSP00000338938; ENSG00000159625. ENST00000360716; ENSP00000353942; ENSG00000159625. ENST00000394337; ENSP00000377869; ENSG00000159625.
GeneID	84229.
KEGG	hsa:84229.
UCSC	uc002emi.3. human. uc002emk.3. human.
Organism-specific databases
CTD	84229.
GeneCards	GC16P057728.
HGNC	HGNC:25289. CCDC135.
HPA	HPA041521.
neXtProt	NX_Q8IY82.
PharmGKB	PA162381380.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG76407.
HOGENOM	HOG000007476.
HOVERGEN	HBG107597.
InParanoid	Q8IY82.
OMA	LLYQYET.
OrthoDB	EOG4S1T6H.
PhylomeDB	Q8IY82.
Gene expression databases
ArrayExpress	Q8IY82.
Bgee	Q8IY82.
CleanEx	HS_CCDC135.
Genevestigator	Q8IY82.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CCDC135. human.
GenomeRNAi	84229.
NextBio	73682.

Entry information

Entry name

CC135_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 73 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.