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Protein

Coiled-coil domain-containing protein 7

Gene

CCDC7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in tumorigenesis.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 7
Alternative name(s):
Protein BIOT2
Gene namesi
Name:CCDC7
Synonyms:BIOT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:26533. CCDC7.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134879457.

Polymorphism and mutation databases

BioMutaiCCDC7.
DMDMi48428133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 486486Coiled-coil domain-containing protein 7PRO_0000089399Add
BLAST

Proteomic databases

PaxDbiQ96M83.
PRIDEiQ96M83.

PTM databases

PhosphoSiteiQ96M83.

Expressioni

Tissue specificityi

Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer.1 Publication

Gene expression databases

BgeeiQ96M83.
CleanExiHS_CCDC7.
ExpressionAtlasiQ96M83. baseline.
GenevestigatoriQ96M83.

Interactioni

Protein-protein interaction databases

BioGridi128674. 4 interactions.
IntActiQ96M83. 3 interactions.
MINTiMINT-1438908.
STRINGi9606.ENSP00000277657.

Structurei

3D structure databases

ProteinModelPortaliQ96M83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili137 – 15721Sequence AnalysisAdd
BLAST
Coiled coili192 – 21524Sequence AnalysisAdd
BLAST
Coiled coili276 – 421146Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG131920.
GeneTreeiENSGT00390000009751.
HOGENOMiHOG000111445.
HOVERGENiHBG050824.
InParanoidiQ96M83.
OMAiQANMLER.
OrthoDBiEOG783MV8.
PhylomeDBiQ96M83.
TreeFamiTF337205.

Family and domain databases

InterProiIPR029272. CCDC7.
[Graphical view]
PfamiPF15368. BioT2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96M83-1) [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

        10         20         30         40         50
MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP
60 70 80 90 100
MVLRSPPTGE SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE
110 120 130 140 150
TYGHCDQNGE EPFVKHEHEE LSLSVGDDMN SFLTYCSQFA AQLEEALKEE
160 170 180 190 200
QNILESLFKW FQWQVNQMEE ISKDQTLLQA EPPKPDKTVI LNIAEIVRLV
210 220 230 240 250
QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA LAQKIEEFLE
260 270 280 290 300
AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD
310 320 330 340 350
AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK
360 370 380 390 400
DKGKSEDSEK KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE
410 420 430 440 450
AEKAKHQLNY FLNQEKLLKS EGKTETTMQV GNSQTKVKGE DSKNIPLEKE
460 470 480
TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKRC
Length:486
Mass (Da):55,780
Last modified:June 7, 2004 - v2
Checksum:iA1BD75D04CCF56EE
GO
Isoform 2 (identifier: Q96M83-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.

Show »
Length:267
Mass (Da):30,493
Checksum:i5980867D49E63675
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481K → Q.
Corresponds to variant rs56391924 [ dbSNP | Ensembl ].
VAR_061586
Natural varianti449 – 4491K → T.
Corresponds to variant rs12268559 [ dbSNP | Ensembl ].
VAR_050766

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei267 – 2671T → L in isoform 2. 1 PublicationVSP_010525
Alternative sequencei268 – 486219Missing in isoform 2. 1 PublicationVSP_010526Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7173.1. [Q96M83-1]
RefSeqiNP_001021554.1. NM_001026383.2. [Q96M83-1]
NP_659460.3. NM_145023.5. [Q96M83-1]
UniGeneiHs.585464.

Genome annotation databases

EnsembliENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-1]
ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-1]
ENST00000476558; ENSP00000436435; ENSG00000216937. [Q96M83-2]
GeneIDi79741.
KEGGihsa:79741.
UCSCiuc001iwj.3. human. [Q96M83-1]

Polymorphism and mutation databases

BioMutaiCCDC7.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7173.1. [Q96M83-1]
RefSeqiNP_001021554.1. NM_001026383.2. [Q96M83-1]
NP_659460.3. NM_145023.5. [Q96M83-1]
UniGeneiHs.585464.

3D structure databases

ProteinModelPortaliQ96M83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128674. 4 interactions.
IntActiQ96M83. 3 interactions.
MINTiMINT-1438908.
STRINGi9606.ENSP00000277657.

PTM databases

PhosphoSiteiQ96M83.

Polymorphism and mutation databases

BioMutaiCCDC7.
DMDMi48428133.

Proteomic databases

PaxDbiQ96M83.
PRIDEiQ96M83.

Protocols and materials databases

DNASUi221016.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-1]
ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-1]
ENST00000476558; ENSP00000436435; ENSG00000216937. [Q96M83-2]
GeneIDi79741.
KEGGihsa:79741.
UCSCiuc001iwj.3. human. [Q96M83-1]

Organism-specific databases

CTDi79741.
GeneCardsiGC10P032735.
HGNCiHGNC:26533. CCDC7.
neXtProtiNX_Q96M83.
PharmGKBiPA134879457.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG131920.
GeneTreeiENSGT00390000009751.
HOGENOMiHOG000111445.
HOVERGENiHBG050824.
InParanoidiQ96M83.
OMAiQANMLER.
OrthoDBiEOG783MV8.
PhylomeDBiQ96M83.
TreeFamiTF337205.

Miscellaneous databases

GenomeRNAii79741.
NextBioi91145.
PROiQ96M83.

Gene expression databases

BgeeiQ96M83.
CleanExiHS_CCDC7.
ExpressionAtlasiQ96M83. baseline.
GenevestigatoriQ96M83.

Family and domain databases

InterProiIPR029272. CCDC7.
[Graphical view]
PfamiPF15368. BioT2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiCCDC7_HUMAN
AccessioniPrimary (citable) accession number: Q96M83
Secondary accession number(s): Q5VW55, Q8IVQ0, Q8NEQ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: April 29, 2015
This is version 90 of the entry and version 2 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 10
    Human chromosome 10: 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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.