Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9BXQ6 (CECR6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | 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:
Cat eye syndrome critical region protein 6
Gene names
Name:CECR6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length578 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

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

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 dup22(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.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   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: Q9BXQ6-1)

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: Q9BXQ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-355: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 578578Cat eye syndrome critical region protein 6
PRO_0000089466

Regions

Compositional bias34 – 165132Gly-rich
Compositional bias55 – 595Poly-Gly
Compositional bias62 – 665Poly-Gly
Compositional bias168 – 17710Poly-Cys
Compositional bias256 – 31762Ala-rich
Compositional bias261 – 2699Poly-His
Compositional bias448 – 4547Poly-Ala
Compositional bias541 – 5488Poly-Pro

Natural variations

Alternative sequence1 – 355355Missing in isoform 2.
VSP_045398

Sequences

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

Last modified June 1, 2001. Version 1.
Checksum: 19ECE9E0873A2891

FASTA57858,425
        10         20         30         40         50         60 
MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR RGSGDSSTST STSRGGGGGR 

        70         80         90        100        110        120 
RGGGGGSPSS STGAEREDDD ESLSVSKPLV PNAALLGPPA QVGAPAGPAP VAFSSSAATS 

       130        140        150        160        170        180 
SSTSTPTSSC SMTAADFGGG AAAGAVGGPG SRSAGGAGGT GTGSGASCCP CCCCCGCPDR 

       190        200        210        220        230        240 
PGRRGRRRGC APSPRCRWGY QALSVVLLLA QGGLLDLYLI AVTDLYWCSW IATDLVVVVG 

       250        260        270        280        290        300 
WAIFFAKNSR GRRGGAASGA HNHHLHHHHA APPLHLPAPS AATAGAKARG ARGGAGGAGG 

       310        320        330        340        350        360 
GLGAAAAAGE FAFAYLAWLI YSIAFTPKVV LILGTSILDL IELRAPFGTT GFRLTMALSV 

       370        380        390        400        410        420 
PLLYSLVRAI SEAGAPPGSA GPLLLQPQRH RAAGCFLGTC LDLLDSFTLV ELMLEGRVPL 

       430        440        450        460        470        480 
PAHLRYLLIA VYFLTLASPV LWLYELNAAA AAAASWGQAS GPGSCSRLLR LLGGCLVDVP 

       490        500        510        520        530        540 
LLALRCLLVV SYQQPLSIFM LKNLFFLGCR GLEALEGCWD RGNRASPSRA RGGYGAPPSA 

       550        560        570 
PPPPPPPPQG GSQLGHCISE NEGGAHGYVN TLAVASQN 

« Hide

Isoform 2 [UniParc].

Checksum: 886ED6689D0911A7
Show »

FASTA22323,409

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. 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: 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. expand/collapse author list , 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF307451 mRNA. Translation: AAK30049.1.
AK095609 mRNA. No translation available.
AC006946 Genomic DNA. No translation available.
RefSeqNP_001156551.1. NM_001163079.1.
NP_114096.1. NM_031890.3.
UniGeneHs.209577.

3D structure databases

ProteinModelPortalQ9BXQ6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118172. 1 interaction.
STRING9606.ENSP00000329318.

PTM databases

PhosphoSiteQ9BXQ6.

Polymorphism databases

DMDM20177840.

Proteomic databases

PaxDbQ9BXQ6.
PRIDEQ9BXQ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331437; ENSP00000329318; ENSG00000183307. [Q9BXQ6-1]
ENST00000399875; ENSP00000382764; ENSG00000183307. [Q9BXQ6-2]
GeneID27439.
KEGGhsa:27439.
UCSCuc002zmb.2. human. [Q9BXQ6-1]

Organism-specific databases

CTD27439.
GeneCardsGC22M017597.
HGNCHGNC:1844. CECR6.
neXtProtNX_Q9BXQ6.
PharmGKBPA26387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46970.
HOGENOMHOG000111531.
InParanoidQ9BXQ6.
OMAFAKNSRG.
OrthoDBEOG7Q5HDZ.
PhylomeDBQ9BXQ6.
TreeFamTF336944.

Gene expression databases

BgeeQ9BXQ6.
CleanExHS_CECR6.
GenevestigatorQ9BXQ6.

Family and domain databases

InterProIPR026624. CECR6.
[Graphical view]
PANTHERPTHR22146. PTHR22146. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi27439.
NextBio50502.
PROQ9BXQ6.

Entry information

Entry nameCECR6_HUMAN
AccessionPrimary (citable) accession number: Q9BXQ6
Secondary accession number(s): A8MYY1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: March 19, 2014
This is version 76 of the entry and version 1 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 chromosome 22

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