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Q96M83

- CCDC7_HUMAN

UniProt

Q96M83 - CCDC7_HUMAN

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Protein

Coiled-coil domain-containing protein 7

Gene
CCDC7, BIOT2
Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 10

Organism-specific databases

HGNCiHGNC:26533. CCDC7.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134879457.

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.
GenevestigatoriQ96M83.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ96M83.

Family & Domainsi

Coiled coil

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG131920.
HOGENOMiHOG000111445.
HOVERGENiHBG050824.
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. Align

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

MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP    50
MVLRSPPTGE SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE 100
TYGHCDQNGE EPFVKHEHEE LSLSVGDDMN SFLTYCSQFA AQLEEALKEE 150
QNILESLFKW FQWQVNQMEE ISKDQTLLQA EPPKPDKTVI LNIAEIVRLV 200
QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA LAQKIEEFLE 250
AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD 300
AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK 350
DKGKSEDSEK KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE 400
AEKAKHQLNY FLNQEKLLKS EGKTETTMQV GNSQTKVKGE DSKNIPLEKE 450
TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKRC 486
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. VSP_010525
Alternative sequencei268 – 486219Missing in isoform 2. VSP_010526Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
XP_005252652.1. XM_005252595.1. [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 databases

DMDMi48428133.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7173.1. [Q96M83-1 ]
RefSeqi NP_001021554.1. NM_001026383.2. [Q96M83-1 ]
NP_659460.3. NM_145023.5. [Q96M83-1 ]
XP_005252652.1. XM_005252595.1. [Q96M83-1 ]
UniGenei Hs.585464.

3D structure databases

ProteinModelPortali Q96M83.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128674. 3 interactions.
IntActi Q96M83. 3 interactions.
MINTi MINT-1438908.
STRINGi 9606.ENSP00000277657.

PTM databases

PhosphoSitei Q96M83.

Polymorphism databases

DMDMi 48428133.

Proteomic databases

PaxDbi Q96M83.
PRIDEi Q96M83.

Protocols and materials databases

DNASUi 221016.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000277657 ; ENSP00000277657 ; ENSG00000216937 . [Q96M83-1 ]
ENST00000362006 ; ENSP00000355078 ; ENSG00000216937 . [Q96M83-1 ]
ENST00000476558 ; ENSP00000436435 ; ENSG00000216937 . [Q96M83-2 ]
GeneIDi 79741.
KEGGi hsa:79741.
UCSCi uc001iwj.3. human. [Q96M83-1 ]

Organism-specific databases

CTDi 79741.
GeneCardsi GC10P032776.
HGNCi HGNC:26533. CCDC7.
neXtProti NX_Q96M83.
PharmGKBi PA134879457.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG131920.
HOGENOMi HOG000111445.
HOVERGENi HBG050824.
OMAi QANMLER.
OrthoDBi EOG783MV8.
PhylomeDBi Q96M83.
TreeFami TF337205.

Miscellaneous databases

NextBioi 91145.
PROi Q96M83.

Gene expression databases

Bgeei Q96M83.
CleanExi HS_CCDC7.
Genevestigatori Q96M83.

Family and domain databases

InterProi IPR029272. CCDC7.
[Graphical view ]
Pfami PF15368. BioT2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 85 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

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