CECR1

GENERAL INFORMATION

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Gene name

CECR1

Gene description

Cat eye syndrome chromosome region, candidate 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Strong cytoplasmic immunoreactivity with a granular pattern was observed in macrophages. Hepatocytes, neurons, parts of the intestine, exocrine pancreas and leydig cells displayed moderate cytoplasmic staining. Remaining normal tissues were in general negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA007888
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Spleen

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CECR1 (HGNC Symbol)

Synonyms

ADGF, IDGFL

Description

Cat eye syndrome chromosome region, candidate 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Chromosome

22

Cytoband

q11.1

Chromosome location (bp)

17178790 - 17221989

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000093072 (version 78.38)

Entrez gene

51816

UniProt

Q9NZK5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZK5

Antibodypedia

CECR1 antibodies


PROTEIN BROWSER

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ENST00000262607
 
ENST00000330232
 
ENST00000399837
 
ENST00000399839
 
ENST00000441548
 
ENST00000449907
 
ENST00000543038
 
ENST00000610390
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CECR1-001 ENSP00000442482
ENST00000543038
F5H7J3
Show all »
Show » Show » 152 17.5 Yes 0
CECR1-002 ENSP00000382733
ENST00000399839
Q9NZK5
Show all »
Show » Show » 511 58.9 Yes 0
CECR1-003 ENSP00000262607
ENST00000262607
Q9NZK5
Show all »
Show » Show » 511 58.9 Yes 0
CECR1-004 ENSP00000332871
ENST00000330232
Q9NZK5
Show all »
Show » Show » 270 30.7 No 0
CECR1-005 ENSP00000392078
ENST00000441548
C9IZA8
Show all »
Show » Show » 135 15.5 Yes 0
CECR1-201 ENSP00000382731
ENST00000399837
Q9NZK5
Show all »
Show » Show » 511 58.9 Yes 0
CECR1-202 ENSP00000406443
ENST00000449907
B4E3Q4
Show all »
Show » Show » 469 54.4 No 0
CECR1-203 ENSP00000483418
ENST00000610390
Show » Show » 391 45.4 No 0