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Q96M83 (CCDC7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 7
Alternative name(s):
Protein BIOT2
Gene names
Name:CCDC7
Synonyms:BIOT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length486 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 486486Coiled-coil domain-containing protein 7
PRO_0000089399

Regions

Coiled coil137 – 15721 Potential
Coiled coil192 – 21524 Potential
Coiled coil276 – 421146 Potential

Natural variations

Alternative sequence2671T → L in isoform 2.
VSP_010525
Alternative sequence268 – 486219Missing in isoform 2.
VSP_010526
Natural variant1481K → Q.
Corresponds to variant rs56391924 [ dbSNP | Ensembl ].
VAR_061586
Natural variant4491K → T.
Corresponds to variant rs12268559 [ dbSNP | Ensembl ].
VAR_050766

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 7, 2004. Version 2.
Checksum: A1BD75D04CCF56EE

FASTA48655,780
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 5980867D49E63675
Show »

FASTA26730,493

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS7173.1. [Q96M83-1]
RefSeqNP_001021554.1. NM_001026383.2. [Q96M83-1]
NP_659460.3. NM_145023.5. [Q96M83-1]
XP_005252652.1. XM_005252595.1. [Q96M83-1]
UniGeneHs.585464.

3D structure databases

ProteinModelPortalQ96M83.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128674. 3 interactions.
IntActQ96M83. 3 interactions.
MINTMINT-1438908.
STRING9606.ENSP00000277657.

PTM databases

PhosphoSiteQ96M83.

Polymorphism databases

DMDM48428133.

Proteomic databases

PaxDbQ96M83.
PRIDEQ96M83.

Protocols and materials databases

DNASU221016.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-1]
ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-1]
ENST00000476558; ENSP00000436435; ENSG00000216937. [Q96M83-2]
GeneID79741.
KEGGhsa:79741.
UCSCuc001iwj.3. human. [Q96M83-1]

Organism-specific databases

CTD79741.
GeneCardsGC10P032776.
HGNCHGNC:26533. CCDC7.
neXtProtNX_Q96M83.
PharmGKBPA134879457.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG131920.
HOGENOMHOG000111445.
HOVERGENHBG050824.
OMAQANMLER.
OrthoDBEOG783MV8.
PhylomeDBQ96M83.
TreeFamTF337205.

Gene expression databases

BgeeQ96M83.
CleanExHS_CCDC7.
GenevestigatorQ96M83.

Family and domain databases

InterProIPR029272. CCDC7.
[Graphical view]
PfamPF15368. BioT2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio91145.
PROQ96M83.

Entry information

Entry nameCCDC7_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM