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Aliases & Descriptions for CA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CA-I 3 CAB 3 Car1 1 , 2 EC 4.2.1.1 3
Descriptions Carbonate dehydratase I 3 Carbonic anhydrase B 3 carbonic anhydrase I 2 , 3 carbonic dehydratase 2
Search outside databases for aliases for CA1 genePrevious GC identifers: GC08M085064 GC08M086197 GC08M086020 GC08M086315
Summaries for CA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CA1 : Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversiblehydration of carbon dioxide. They participate in a variety of biological processes, includingrespiration, calcification, acid-base balance, bone resorption, and the formation of aqueoushumor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissuedistribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3 genes onchromosome 8, and it encodes a cytosolic protein which is found at the highest level inerythrocytes. Transcript variants of CA1 utilizing alternative polyA_sites have been described inliterature. [provided by RefSeq] UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915 Function : Reversible hydration of carbon dioxide
Gene Wiki entry for CA1
Genomic Location for CA1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CA1 gene Entrez Gene cytogenetic band: 8q13-q22.1 Ensembl cytogenetic band: 8q21.2 HGNC cytogenetic band: 8q21.2 CA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M086427:
(about GC identifiers )
Start:
86,427,709 bp from pter
End:
86,477,594 bp from pter
Size:
49,886 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000008.9 NT_008183.18 Proteins for CA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915 (See
protein sequence )Recommended Name: Carbonic anhydrase 1 Size : 261 amino acids; 28870 Da
Cofactor : Zinc
Subcellular location : Cytoplasm
PDB structures from and Proteopedia : 1AZM (3D)
 1BZM (3D)
 1CRM (3D)
 1CZM (3D)
 1HCB (3D)
 1HUG (3D)
 1HUH (3D)
 1J9W (3D)
 1JV0 (3D)
 2CAB (3D)
 2FOY (3D)
 2FW4 (3D)
 2IT4 (3D)
 2NMX (3D)
 2NN1 (3D)
 2NN7 (3D)
 
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_001122301.1 NP_001122302.1 NP_001122303.1 NP_001729.1 ENSEMBL proteins: ENSP00000256119 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for CA1: Assays for CA1:
Protein
Domains/ Families for CA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P00915 ProtoNet protein and cluster: P00915
1 Blocks protein family : IPB001148 Carbonic anhydrase UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915 Similarity : Belongs to the alpha-carbonic anhydrase family
Gene Function for CA1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
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Clones , and
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_001738 Applied Biosystems Silencer ® siRNAs for CA1 Sigma-Aldrich siRNA and siRNA Panels for CA1 Sigma-Aldrich shRNA Panels and shRNA for CA1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001128830 UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915 Function : Reversible hydration of carbon dioxideCatalytic activity : H(2)CO(3) = CO(2) + H(2)OEnzyme Number (IUBMB): EC 4.2.1.1
Genatlas biochemistry entry for CA1 :carbonic anhydrase I,cytosolic,erythrocyte 4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for CA1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for CA1 (Your Favorite Gene powered by Ingenuity) 2 Interacting proteins for CA1 (ENSP00000256119 3 ) via UniProtKB, MINT, and/or STRING About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006730 one-carbon compound metabolic process
IEA --
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Drugs & Compounds for CA1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for CA1 10 Novoseek chemical compound relationships for CA1 gene
About this table
Transcripts for CA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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siRNAs from Applied Biosystems ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_001738 Sigma-Aldrich siRNA and siRNA Panels for CA1 Sigma-Aldrich shRNA Panels and shRNA for CA1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001128829 NM_001128830 NM_001128831 NM_001738
REFSEQ mRNAs for CA1 gene (4 alternative transcripts): NM_001128829.1 NM_001128830.1 NM_001128831.1 NM_001738.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001128829 NM_001128830 NM_001128831 NM_001738
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001128829  
Additional cDNA sequence: BC027890.1 M33987.1 X05014.1
24/25 DOTS entries (see all 25
): DT.121482872 DT.100031767 DT.100031745 DT.121482841 DT.100031757 DT.100031744 DT.121482834 DT.100794821 DT.100031763 DT.121482894 DT.100031768 DT.100794820 DT.100031746 DT.100794823 DT.91971847 DT.100031742 DT.100031749 DT.100031758 DT.100031760 DT.100031761 DT.100031762 DT.100031766 DT.100794822 DT.95361469
24/1202 AceView cDNA sequences (see all 1202
):BU656674 BU665399 BU660932 BU664664 AW083254 BU656096 BU656564 BU657648 BU659740 BU664735 BU664226 BU660481 BU658937 BU658447 BU656876 BU660938 BU657631 BU656486 BU664611 BU665447 AW135107 BU656862 BU657296 BU663769
highest scoring ESTs for CA1 :M33987 BC027890 BI838466 BU655732 BU655746 BU655749 BU655754 BU655755 BU655766 BU655767
Unigene Cluster for CA1: Carbonic anhydrase I Hs.23118 [show with all ESTs ] Unigene Representative Sequence: M33987 GeneLoc Exon Structure 5/20 Alternative Splicing Database (ASD) splice patterns (SP) for CA1 (see all 20
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · SP1 :   -   -   -   -   -   -     -     -   -   -   -                           SP2 :                 -     -   -   -   -                 -   -   -       SP3 :           -   -     -     -   -   -   -                           SP4 :                 -     -   -   -   -                           SP5 :                 -       -   -   -                          
ExUns: 16b · 16c · 16d · 16e SP1 :         SP2 :         SP3 :         SP4 :         SP5 :        
About this scheme ECgene alternative splicing isoforms for CA1 1 Ensembl transcript including schematic representation : ENST00000256119
Expression for CA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CA1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CA1 1 / 2 / 3
5 probe-sets matching CA1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCTTCAAATCSOURCE GeneReport for Unigene cluster: Hs.23118 Expression variation in blood from EXPOLDB for CA1
Orthologs for CA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CA1 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for CA1 ENSEMBL Gene Tree for CA1 Paralogs for CA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for CA1 gene CA2 2 CA3 2 CA13 2
SNPs/Variants for CA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CA1 (up to first 250kb)
Disorders & Mutations for CA1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 114800 10/12 Novoseek disease relationships for CA1 gene (see all 12
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
hyperthyroidism
37.51
6
1899425 (1), 1943730 (1), 9669291 (1), 8612521 (1) (see all 5 )
erythroleukemia
33.20
2
1719810 (1)
thyroid diseases
22.79
3
8804152 (1), 17657991 (1)
chronic pancreatitis
18.56
4
8613065 (2), 12806141 (1), 10824693 (1)
familial adenomatous polyposis
10.73
1
8359594 (1)
cancer
0.00
4
16088401 (1), 1615938 (1), 11680594 (1)
tumors
0.00
6
12927591 (2), 15908201 (1), 17187689 (1)
gastric cancer
0.00
1
16185290 (1)
adenocarcinoma
0.00
1
1690978 (1)
metastasis
0.00
4
11020863 (2), 12927591 (1)
About this table Human Gene Mutation Database : CA1
Medical News for CA1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for CA1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/146 PubMed articles for CA1 gene (see all 146
): Structure and methylation patterns of the gene encoding human carbonic anhydrase I. (PubMed id 2121614) 1, 3, 4 Lowe N....Butterworth P.H.W. (1990) Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I. (PubMed id 7866410) 1, 3, 4 Chegwidden W.R.... Tashian R.E. (1994) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Physical mapping of the human carbonic anhydrase gene cluster on chromosome 8. (PubMed id 1916821) 2, 3 Lowe N....Butterworth P.H. (1991) Human carbonic anhydrase I cDNA. (PubMed id 3104879) 3, 4 Barlow J.H.... Butterworth P.H.W. (1987) Population genetic studies of the Philippine Negritos. III. Identification of the carbonic anhydrase-1 variant with CA1 Guam. (PubMed id 6781336) 3, 4 Omoto K.... Pagaran I.G. (1981) Crystal structure of human erythrocyte carbonic anhydrase B. Three- dimensional structure at a nominal 2.2-A resolution. (PubMed id 804171) 3, 4 Kannan K.K....Petef M. (1975) Human carbonic anhydrases. XII. The complete primary structure of the C isozyme. (PubMed id 4207120) 3, 4 Lin K.-T.D. and Deutsch H.F. (1974) Primary structure of human B erythrocyte carbonic anhydrase. 3. Sequence of CNBr fragment I and III (residues 149-260). (PubMed id 4217196) 3, 4 Giraud N.... Laurent-Tabusse G. (1974) Human carbonic anhydrases. XI. The complete primary structure of carbonic anhydrase B. (PubMed id 4632246) 3, 4 Lin K.-T.D. and Deutsch H.F. (1973)
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Genome Databases showing CA1
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
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Specialized Databases showing CA1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for CA1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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