Q96M83 (CCDC7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 7

Alternative name(s):
Protein BIOT2

Gene names

Name:	CCDC7
Synonyms:	BIOT2

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

General annotation (Comments)

Function	May play a role in tumorigenesis By similarity.
Tissue specificity	Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer. Ref.5

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Isoform 1 (identifier: Q96M83-1)

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: Q96M83-2)

The sequence of this isoform differs from the canonical sequence as follows:
     267-267: T → L
     268-486: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 486	486	Coiled-coil domain-containing protein 7		PRO_0000089399
Regions
	Coiled coil	137 – 157	21	Potential
	Coiled coil	192 – 215	24	Potential
	Coiled coil	276 – 421	146	Potential
Natural variations
	Alternative sequence	267	1	T → L in isoform 2.		VSP_010525
	Alternative sequence	268 – 486	219	Missing in isoform 2.		VSP_010526
	Natural variant	148	1	K → Q. Corresponds to variant rs56391924 [ dbSNP | Ensembl ].		VAR_061586
	Natural variant	449	1	K → T. Corresponds to variant rs12268559 [ dbSNP | Ensembl ].		VAR_050766

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 7, 2004. Version 2. Checksum: A1BD75D04CCF56EE	FASTA	486	55,780
	10 20 30 40 50 60 MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP MVLRSPPTGE 70 80 90 100 110 120 SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE TYGHCDQNGE EPFVKHEHEE 130 140 150 160 170 180 LSLSVGDDMN SFLTYCSQFA AQLEEALKEE QNILESLFKW FQWQVNQMEE ISKDQTLLQA 190 200 210 220 230 240 EPPKPDKTVI LNIAEIVRLV QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA 250 260 270 280 290 300 LAQKIEEFLE AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD 310 320 330 340 350 360 AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK DKGKSEDSEK 370 380 390 400 410 420 KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE AEKAKHQLNY FLNQEKLLKS 430 440 450 460 470 480 EGKTETTMQV GNSQTKVKGE DSKNIPLEKE TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKRC
	Isoform 2 [UniParc]. Checksum: 5980867D49E63675	FASTA	267	30,493
	10 20 30 40 50 60 MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP MVLRSPPTGE 70 80 90 100 110 120 SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE TYGHCDQNGE EPFVKHEHEE 130 140 150 160 170 180 LSLSVGDDMN SFLTYCSQFA AQLEEALKEE QNILESLFKW FQWQVNQMEE ISKDQTLLQA 190 200 210 220 230 240 EPPKPDKTVI LNIAEIVRLV QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA 250 260 LAQKIEEFLE AHSTDEFKDV SATEPQL

References

	« Hide 'large scale' referencesShow 'large scale' 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] (ISOFORM 2). Tissue: Testis.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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). Tissue: Brain and Testis.
[5]	"Overexpression of the hBiot2 gene is associated with development of human cervical cancer." Shen Y.M., He X., Deng H.X., Xie Y.P., Wang C.T., Wei Y.Q., Zhao X. Oncol. Rep. 25:75-80(2011) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057324 mRNA. Translation: BAB71426.1. AL391839, AL354750 Genomic DNA. Translation: CAH70456.1. AL354750, AL391839 Genomic DNA. Translation: CAI39706.1. CH471072 Genomic DNA. Translation: EAW85966.1. BC022020 mRNA. Translation: AAH22020.2. BC042672 mRNA. Translation: AAH42672.1.
IPI	IPI00472983. IPI00479017.
RefSeq	NP_001021554.1. NM_001026383.1. NP_659460.3. NM_145023.4.
UniGene	Hs.585464.
3D structure databases
ProteinModelPortal	Q96M83.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96M83. 2 interactions.
MINT	MINT-1438908.
STRING	9606.ENSP00000277657.
PTM databases
PhosphoSite	Q96M83.
Polymorphism databases
DMDM	48428133.
Proteomic databases
PaxDb	Q96M83.
PRIDE	Q96M83.
Protocols and materials databases
DNASU	221016.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000277657; ENSP00000277657; ENSG00000216937. ENST00000362006; ENSP00000355078; ENSG00000216937. ENST00000476558; ENSP00000436435; ENSG00000216937.
GeneID	221016.
KEGG	hsa:221016.
UCSC	uc001iwj.3. human.
Organism-specific databases
CTD	221016.
GeneCards	GC10P032776.
HGNC	HGNC:26533. CCDC7.
neXtProt	NX_Q96M83.
PharmGKB	PA134879457.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG131920.
HOGENOM	HOG000111445.
HOVERGEN	HBG050824.
OMA	QMEEISK.
OrthoDB	EOG402WS6.
Gene expression databases
ArrayExpress	Q96M83.
Bgee	Q96M83.
CleanEx	HS_CCDC7.
Genevestigator	Q96M83.
GermOnline	ENSG00000150076. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	221016.
NextBio	91145.

Entry information

Entry name

CCDC7_HUMAN

Accession

Primary (citable) accession number: Q96M83
Secondary accession number(s): Q5VW55, Q8IVQ0, Q8NEQ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 7, 2004
Last sequence update:	June 7, 2004
Last modified:	April 3, 2013
This is version 75 of the entry and version 2 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.