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Protein

Cat eye syndrome critical region protein 6

Gene

CECR6

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

Functioni

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.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000183307.3.
HGNCiHGNC:1844. CECR6.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000183307.
PharmGKBiPA26387.

Polymorphism and mutation databases

BioMutaiCECR6.
DMDMi20177840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894661 – 578Cat eye syndrome critical region protein 6Add BLAST578

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei167PhosphoserineBy similarity1
Modified residuei552PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9BXQ6.
PeptideAtlasiQ9BXQ6.
PRIDEiQ9BXQ6.

PTM databases

iPTMnetiQ9BXQ6.
PhosphoSitePlusiQ9BXQ6.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000183307.
CleanExiHS_CECR6.
GenevisibleiQ9BXQ6. HS.

Organism-specific databases

HPAiHPA068790.

Interactioni

Protein-protein interaction databases

BioGridi118172. 1 interactor.
STRINGi9606.ENSP00000329318.

Structurei

3D structure databases

ProteinModelPortaliQ9BXQ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi34 – 165Gly-richAdd BLAST132
Compositional biasi55 – 59Poly-Gly5
Compositional biasi62 – 66Poly-Gly5
Compositional biasi168 – 177Poly-Cys10
Compositional biasi256 – 317Ala-richAdd BLAST62
Compositional biasi261 – 269Poly-His9
Compositional biasi448 – 454Poly-Ala7
Compositional biasi541 – 548Poly-Pro8

Phylogenomic databases

eggNOGiENOG410II5F. Eukaryota.
ENOG4111F3U. LUCA.
GeneTreeiENSGT00530000064564.
HOGENOMiHOG000208509.
InParanoidiQ9BXQ6.
OMAiFAKNSRG.
OrthoDBiEOG091G08F9.
PhylomeDBiQ9BXQ6.
TreeFamiTF336944.

Family and domain databases

InterProiView protein in InterPro
IPR026624. CECR6.
IPR032776. CECR6/TMEM121.
PANTHERiPTHR22146:SF13. PTHR22146:SF13. 1 hit.
PfamiView protein in Pfam
PF14997. CECR6_TMEM121. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0453981 – 355Missing in isoform 2. 1 PublicationAdd BLAST355

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]
XP_011544426.1. XM_011546124.2. [Q9BXQ6-1]
UniGeneiHs.209577.

Genome annotation databases

EnsembliENST00000331437; ENSP00000329318; ENSG00000183307. [Q9BXQ6-1]
ENST00000399875; ENSP00000382764; ENSG00000183307. [Q9BXQ6-2]
GeneIDi27439.
KEGGihsa:27439.
UCSCiuc002zma.2. human. [Q9BXQ6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCECR6_HUMAN
AccessioniPrimary (citable) accession number: Q9BXQ6
Secondary accession number(s): A8MYY1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: September 27, 2017
This is version 99 of the entry and version 1 of the sequence. See 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM