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Protein

Putative cat eye syndrome critical region protein 9

Gene

CECR9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Protein uncertaini

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.

Caution

Product of a dubious gene prediction.Curated

Names & Taxonomyi

Protein namesi
Recommended name:
Putative cat eye syndrome critical region protein 9
Gene namesi
Name:CECR9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:1847 CECR9
neXtProtiNX_P0C854

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000034733624 – 216Putative cat eye syndrome critical region protein 9Add BLAST193

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi148N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiP0C854
ProteomicsDBi52397

Expressioni

Tissue specificityi

Ubiquitously expressed with higher expression in heart.1 Publication

Gene expression databases

CleanExiHS_CECR9

Family & Domainsi

Keywords - Domaini

Signal

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P0C854-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQSHLAPLAC AAAAGRAGGS CQAAQPEDRR VLRYPGTAVM VTCPNRPLVP
60 70 80 90 100
RPLLTPGGSR ASLALCAFVA VPQRIPQPLL PAYILLMLPS LVVDMALPSS
110 120 130 140 150
RLLRSIKPIQ PASQVVRKER NPNPNCPQSD PLMKASSTSF LSHTYLINKT
160 170 180 190 200
RSTTRKVEEH SWFTCTGAKY FAIPLAERNT KRLTKRSTHA QLLRGKQDGS
210
EWVVPRSSAS SNVLYH
Length:216
Mass (Da):23,602
Last modified:September 2, 2008 - v1
Checksum:iFD130165B3B5F000
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005399 Genomic DNA No translation available.
AF307449 mRNA No translation available.
UniGeneiHs.542791

Entry informationi

Entry nameiCECR9_HUMAN
AccessioniPrimary (citable) accession number: P0C854
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: June 20, 2018
This is version 30 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

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