Q8TBZ0 (CC110_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 110

Alternative name(s):
Cancer/testis antigen 52
Short name=CT52
Cancer/testis antigen KM-HN-1

Gene names

Name:	CCDC110
Synonyms:	KMHN1

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	833 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Nucleus Ref.1.
Tissue specificity	Expressed specifically in testis. Also expressed in tumors of different origins. Ref.1

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TBZ0-1)

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: Q8TBZ0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     80-116: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 833	833	Coiled-coil domain-containing protein 110		PRO_0000249076
Regions
	Coiled coil	431 – 778	348	Potential
Natural variations
	Alternative sequence	80 – 116	37	Missing in isoform 2.		VSP_020365
	Natural variant	209	1	P → Q. Corresponds to variant rs7699687 [ dbSNP | Ensembl ].		VAR_050729
	Natural variant	299	1	L → M. Corresponds to variant rs7698680 [ dbSNP | Ensembl ].		VAR_050730
	Natural variant	382	1	L → M. Corresponds to variant rs9999097 [ dbSNP | Ensembl ].		VAR_050731
	Natural variant	409	1	S → F. Corresponds to variant rs11132306 [ dbSNP | Ensembl ].		VAR_050732
	Natural variant	500	1	Y → D. Corresponds to variant rs59319722 [ dbSNP | Ensembl ].		VAR_061577
	Natural variant	614	1	I → M. Corresponds to variant rs35596415 [ dbSNP | Ensembl ].		VAR_050733
	Natural variant	669	1	Q → R. Corresponds to variant rs6827370 [ dbSNP | Ensembl ].		VAR_050734
	Natural variant	817	1	S → L. Corresponds to variant rs9683564 [ dbSNP | Ensembl ].		VAR_050735
	Natural variant	819	1	L → M. Corresponds to variant rs34800518 [ dbSNP | Ensembl ].		VAR_050736

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: AE76D1328CBED1BA	FASTA	833	96,726
	10 20 30 40 50 60 MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI QPQSALKVLQ 70 80 90 100 110 120 QQLESFQALR MQTLQNVSMV QSEISEILNK SIIEVENPQF SSEKNLVFGT RIEKDLPTEN 130 140 150 160 170 180 QEENLSMEKS HHFEDSKTLH SVEEKLSGDS VNSLPQSVNV PSQIHSEDTL TLRTSTDNLS 190 200 210 220 230 240 SNIIIHPSEN SDILKNYNNF YRFLPTAPPN VMSQADTVIL DKSKITVPFL KHGFCENLDD 250 260 270 280 290 300 ICHSIKQMKE ELQKSHDGEV ALTNELQTLQ TDPDVHRNGK YDMSPIHQDK MNFIKEENLD 310 320 330 340 350 360 GNLNEDIKSK RISELEALVK KLLPFRETVS KFHVHFCRKC KKLSKSEMHR GKKNEKNNKE 370 380 390 400 410 420 IPITGKNITD LKFHSRVPRY TLSFLDQTKH EMKDKERQPF LVKQGSIISE NEKTSKVNSV 430 440 450 460 470 480 TEQCVAKIQY LQNYLKESVQ IQKKVMELES ENLNLKSKMK PLIFTTQSLI QKVETYEKQL 490 500 510 520 530 540 KNLVEEKSTI QSKLSKTEEY SKECLKEFKK IISKYNVLQG QNKTLEEKNI QLSLEKQQMM 550 560 570 580 590 600 EALDQLKSKE HKTQSDMAIV NNENNRMSIE MEAMKTNILL IQDEKEMLEK KTHQLLKEKS 610 620 630 640 650 660 SLGNELKESQ LEIIQLKEKE RLAKTEQETL LQIIETVKDE KLNLETTLQE STAARQIMER 670 680 690 700 710 720 EIENIQTYQS TAEENFLQEI KNAKSEASIY KNSLSEIGKE CEMLSKMVME TKTDNQILKE 730 740 750 760 770 780 ELKKHSQENI KFENSISRLT EDKILLENYV RSIENERDTL EFEMRHLQRE YLSLSDKICN 790 800 810 820 830 QHNDPSKTTY ISRREKFHFD NYTHEDTSSP QSRPLASDLK GYFKVKDRTL KHH
	Isoform 2 [UniParc]. Checksum: 7B491F6E23D0DC27	FASTA	796	92,509
	10 20 30 40 50 60 MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI QPQSALKVLQ 70 80 90 100 110 120 QQLESFQALR MQTLQNVSMP TENQEENLSM EKSHHFEDSK TLHSVEEKLS GDSVNSLPQS 130 140 150 160 170 180 VNVPSQIHSE DTLTLRTSTD NLSSNIIIHP SENSDILKNY NNFYRFLPTA PPNVMSQADT 190 200 210 220 230 240 VILDKSKITV PFLKHGFCEN LDDICHSIKQ MKEELQKSHD GEVALTNELQ TLQTDPDVHR 250 260 270 280 290 300 NGKYDMSPIH QDKMNFIKEE NLDGNLNEDI KSKRISELEA LVKKLLPFRE TVSKFHVHFC 310 320 330 340 350 360 RKCKKLSKSE MHRGKKNEKN NKEIPITGKN ITDLKFHSRV PRYTLSFLDQ TKHEMKDKER 370 380 390 400 410 420 QPFLVKQGSI ISENEKTSKV NSVTEQCVAK IQYLQNYLKE SVQIQKKVME LESENLNLKS 430 440 450 460 470 480 KMKPLIFTTQ SLIQKVETYE KQLKNLVEEK STIQSKLSKT EEYSKECLKE FKKIISKYNV 490 500 510 520 530 540 LQGQNKTLEE KNIQLSLEKQ QMMEALDQLK SKEHKTQSDM AIVNNENNRM SIEMEAMKTN 550 560 570 580 590 600 ILLIQDEKEM LEKKTHQLLK EKSSLGNELK ESQLEIIQLK EKERLAKTEQ ETLLQIIETV 610 620 630 640 650 660 KDEKLNLETT LQESTAARQI MEREIENIQT YQSTAEENFL QEIKNAKSEA SIYKNSLSEI 670 680 690 700 710 720 GKECEMLSKM VMETKTDNQI LKEELKKHSQ ENIKFENSIS RLTEDKILLE NYVRSIENER 730 740 750 760 770 780 DTLEFEMRHL QREYLSLSDK ICNQHNDPSK TTYISRREKF HFDNYTHEDT SSPQSRPLAS 790 DLKGYFKVKD RTLKHH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel human cancer/testis antigen, KM-HN-1, recognized by cellular and humoral immune responses." Monji M., Nakatsura T., Senju S., Yoshitake Y., Sawatsubashi M., Shinohara M., Kageshita T., Ono T., Inokuchi A., Nishimura Y. Clin. Cancer Res. 10:6047-6057(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Testis.
[2]	"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] (ISOFORMS 1 AND 2). Tissue: Testis.
[3]	"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] OF 1-596. Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB080722 mRNA. Translation: BAC81776.1. BC028419 mRNA. Translation: AAH28419.1. BC038515 mRNA. Translation: AAH38515.1. AK097605 mRNA. Translation: BAC05116.1.
IPI	IPI00152318. IPI00784583.
RefSeq	NP_001138883.1. NM_001145411.1. NP_689988.1. NM_152775.3.
UniGene	Hs.41101.
3D structure databases
ProteinModelPortal	Q8TBZ0.
SMR	Q8TBZ0. Positions 748-783.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TBZ0. 1 interaction.
STRING	9606.ENSP00000306776.
PTM databases
PhosphoSite	Q8TBZ0.
Polymorphism databases
DMDM	74730531.
Proteomic databases
PaxDb	Q8TBZ0.
PRIDE	Q8TBZ0.
Protocols and materials databases
DNASU	256309.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307588; ENSP00000306776; ENSG00000168491. ENST00000393540; ENSP00000377172; ENSG00000168491.
GeneID	256309.
KEGG	hsa:256309.
UCSC	uc003ixu.4. human. uc003ixv.4. human.
Organism-specific databases
CTD	256309.
GeneCards	GC04M186366.
HGNC	HGNC:28504. CCDC110.
HPA	HPA038475.
MIM	609488. gene.
neXtProt	NX_Q8TBZ0.
PharmGKB	PA162381283.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG128630.
HOGENOM	HOG000057285.
HOVERGEN	HBG081026.
InParanoid	Q8TBZ0.
OrthoDB	EOG48WC1C.
PhylomeDB	Q8TBZ0.
Gene expression databases
ArrayExpress	Q8TBZ0.
Bgee	Q8TBZ0.
CleanEx	HS_CCDC110.
Genevestigator	Q8TBZ0.
GermOnline	ENSG00000168491. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	256309.
NextBio	92775.
SOURCE	Search...

Entry information

Entry name

CC110_HUMAN

Accession

Primary (citable) accession number: Q8TBZ0
Secondary accession number(s): Q86YI9, Q8N7W0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	June 1, 2002
Last modified:	April 3, 2013
This is version 74 of the entry and version 1 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.