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Q9BXQ6

- CECR6_HUMAN

UniProt

Q9BXQ6 - CECR6_HUMAN

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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

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.
GeneTreeiENSGT00530000064564.
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

        10         20         30         40         50
MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR RGSGDSSTST
60 70 80 90 100
STSRGGGGGR RGGGGGSPSS STGAEREDDD ESLSVSKPLV PNAALLGPPA
110 120 130 140 150
QVGAPAGPAP VAFSSSAATS SSTSTPTSSC SMTAADFGGG AAAGAVGGPG
160 170 180 190 200
SRSAGGAGGT GTGSGASCCP CCCCCGCPDR PGRRGRRRGC APSPRCRWGY
210 220 230 240 250
QALSVVLLLA QGGLLDLYLI AVTDLYWCSW IATDLVVVVG WAIFFAKNSR
260 270 280 290 300
GRRGGAASGA HNHHLHHHHA APPLHLPAPS AATAGAKARG ARGGAGGAGG
310 320 330 340 350
GLGAAAAAGE FAFAYLAWLI YSIAFTPKVV LILGTSILDL IELRAPFGTT
360 370 380 390 400
GFRLTMALSV PLLYSLVRAI SEAGAPPGSA GPLLLQPQRH RAAGCFLGTC
410 420 430 440 450
LDLLDSFTLV ELMLEGRVPL PAHLRYLLIA VYFLTLASPV LWLYELNAAA
460 470 480 490 500
AAAASWGQAS GPGSCSRLLR LLGGCLVDVP LLALRCLLVV SYQQPLSIFM
510 520 530 540 550
LKNLFFLGCR GLEALEGCWD RGNRASPSRA RGGYGAPPSA PPPPPPPPQG
560 570
GSQLGHCISE NEGGAHGYVN TLAVASQN
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00530000064564.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 81 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