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Q9BXQ6

- CECR6_HUMAN

UniProt

Q9BXQ6 - CECR6_HUMAN

Protein

Cat eye syndrome critical region protein 6

Gene

CECR6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cat eye syndrome critical region protein 6
    Gene namesi
    Name:CECR6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:1844. CECR6.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26387.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 578578Cat eye syndrome critical region protein 6PRO_0000089466Add
    BLAST

    Proteomic databases

    PaxDbiQ9BXQ6.
    PRIDEiQ9BXQ6.

    PTM databases

    PhosphoSiteiQ9BXQ6.

    Expressioni

    Tissue specificityi

    Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood leukocytes and fetal brain.

    Gene expression databases

    BgeeiQ9BXQ6.
    CleanExiHS_CECR6.
    GenevestigatoriQ9BXQ6.

    Interactioni

    Protein-protein interaction databases

    BioGridi118172. 1 interaction.
    STRINGi9606.ENSP00000329318.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BXQ6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi34 – 165132Gly-richAdd
    BLAST
    Compositional biasi55 – 595Poly-Gly
    Compositional biasi62 – 665Poly-Gly
    Compositional biasi168 – 17710Poly-Cys
    Compositional biasi256 – 31762Ala-richAdd
    BLAST
    Compositional biasi261 – 2699Poly-His
    Compositional biasi448 – 4547Poly-Ala
    Compositional biasi541 – 5488Poly-Pro

    Phylogenomic databases

    eggNOGiNOG46970.
    HOGENOMiHOG000111531.
    InParanoidiQ9BXQ6.
    OMAiFAKNSRG.
    OrthoDBiEOG7Q5HDZ.
    PhylomeDBiQ9BXQ6.
    TreeFamiTF336944.

    Family and domain databases

    InterProiIPR026624. CECR6.
    [Graphical view]
    PANTHERiPTHR22146:SF1. PTHR22146:SF1. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BXQ6-1) [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

    MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR RGSGDSSTST    50
    STSRGGGGGR RGGGGGSPSS STGAEREDDD ESLSVSKPLV PNAALLGPPA 100
    QVGAPAGPAP VAFSSSAATS SSTSTPTSSC SMTAADFGGG AAAGAVGGPG 150
    SRSAGGAGGT GTGSGASCCP CCCCCGCPDR PGRRGRRRGC APSPRCRWGY 200
    QALSVVLLLA QGGLLDLYLI AVTDLYWCSW IATDLVVVVG WAIFFAKNSR 250
    GRRGGAASGA HNHHLHHHHA APPLHLPAPS AATAGAKARG ARGGAGGAGG 300
    GLGAAAAAGE FAFAYLAWLI YSIAFTPKVV LILGTSILDL IELRAPFGTT 350
    GFRLTMALSV PLLYSLVRAI SEAGAPPGSA GPLLLQPQRH RAAGCFLGTC 400
    LDLLDSFTLV ELMLEGRVPL PAHLRYLLIA VYFLTLASPV LWLYELNAAA 450
    AAAASWGQAS GPGSCSRLLR LLGGCLVDVP LLALRCLLVV SYQQPLSIFM 500
    LKNLFFLGCR GLEALEGCWD RGNRASPSRA RGGYGAPPSA PPPPPPPPQG 550
    GSQLGHCISE NEGGAHGYVN TLAVASQN 578
    Length:578
    Mass (Da):58,425
    Last modified:June 1, 2001 - v1
    Checksum:i19ECE9E0873A2891
    GO
    Isoform 2 (identifier: Q9BXQ6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-355: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:223
    Mass (Da):23,409
    Checksum:i886ED6689D0911A7
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 355355Missing in isoform 2. 1 PublicationVSP_045398Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF307451 mRNA. Translation: AAK30049.1.
    AK095609 mRNA. No translation available.
    AC006946 Genomic DNA. No translation available.
    CCDSiCCDS13740.1. [Q9BXQ6-1]
    CCDS54494.1. [Q9BXQ6-2]
    RefSeqiNP_001156551.1. NM_001163079.1. [Q9BXQ6-2]
    NP_114096.1. NM_031890.3. [Q9BXQ6-1]
    UniGeneiHs.209577.

    Genome annotation databases

    EnsembliENST00000331437; ENSP00000329318; ENSG00000183307. [Q9BXQ6-1]
    ENST00000399875; ENSP00000382764; ENSG00000183307. [Q9BXQ6-2]
    GeneIDi27439.
    KEGGihsa:27439.
    UCSCiuc002zmb.2. human. [Q9BXQ6-1]

    Polymorphism databases

    DMDMi20177840.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF307451 mRNA. Translation: AAK30049.1 .
    AK095609 mRNA. No translation available.
    AC006946 Genomic DNA. No translation available.
    CCDSi CCDS13740.1. [Q9BXQ6-1 ]
    CCDS54494.1. [Q9BXQ6-2 ]
    RefSeqi NP_001156551.1. NM_001163079.1. [Q9BXQ6-2 ]
    NP_114096.1. NM_031890.3. [Q9BXQ6-1 ]
    UniGenei Hs.209577.

    3D structure databases

    ProteinModelPortali Q9BXQ6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118172. 1 interaction.
    STRINGi 9606.ENSP00000329318.

    PTM databases

    PhosphoSitei Q9BXQ6.

    Polymorphism databases

    DMDMi 20177840.

    Proteomic databases

    PaxDbi Q9BXQ6.
    PRIDEi Q9BXQ6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331437 ; ENSP00000329318 ; ENSG00000183307 . [Q9BXQ6-1 ]
    ENST00000399875 ; ENSP00000382764 ; ENSG00000183307 . [Q9BXQ6-2 ]
    GeneIDi 27439.
    KEGGi hsa:27439.
    UCSCi uc002zmb.2. human. [Q9BXQ6-1 ]

    Organism-specific databases

    CTDi 27439.
    GeneCardsi GC22M017597.
    HGNCi HGNC:1844. CECR6.
    neXtProti NX_Q9BXQ6.
    PharmGKBi PA26387.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46970.
    HOGENOMi HOG000111531.
    InParanoidi Q9BXQ6.
    OMAi FAKNSRG.
    OrthoDBi EOG7Q5HDZ.
    PhylomeDBi Q9BXQ6.
    TreeFami TF336944.

    Miscellaneous databases

    GenomeRNAii 27439.
    NextBioi 50502.
    PROi Q9BXQ6.

    Gene expression databases

    Bgeei Q9BXQ6.
    CleanExi HS_CECR6.
    Genevestigatori Q9BXQ6.

    Family and domain databases

    InterProi IPR026624. CECR6.
    [Graphical view ]
    PANTHERi PTHR22146:SF1. PTHR22146:SF1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere."
      Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H., Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S.
      , Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.
      Genome Res. 11:1053-1070(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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: Brain.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiCECR6_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXQ6
    Secondary accession number(s): A8MYY1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 80 of the entry and version 1 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

    Miscellaneous

    Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM

    External Data

    Dasty 3