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CA5BP1 Gene

pseudogene   GIFtS: 26
GCID: GC0XP015695

Carbonic Anhydrase VB Pseudogene 1

(Previous names: carbonic anhydrase VB-like, carbonic anhydrase VB pseudogene)
(Previous symbols: CA5BL, CA5BP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Carbonic Anhydrase VB Pseudogene 11 2     Mitochondrial Precursor1
CA5BL1 2 3     Similar To Carbonic Anhydrase VB1
CA5BP1 2     PRO23252
Carbonic Anhydrase VB Pseudogene1     CA5B3
Carbonic Anhydrase VB-Like1     CA-VB-Like Protein3
Carbonic Dehydratase1     

External Ids:    HGNC: 295441   Entrez Gene: 3405912   Ensembl: ENSG000001863127   UniProtKB: Q8WTZ43   
ORGUL members:         

Export aliases for CA5BP1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CA5BP1 Gene:
CA5BP1 (carbonic anhydrase VB pseudogene 1) is a pseudogene, and is affiliated with the lncRNA class. GO annotations related to this gene include carbonate dehydratase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for CA5BP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA5BP1 promoter sequence
   Search Chromatin IP Primers for CA5BP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CA5BP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.2

CA5BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA5BP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP015695:  view genomic region     (about GC identifiers)

Start:
15,693,039 bp from pter      End:
15,721,847 bp from pter
Size:
28,809 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CA5BL_HUMAN, Q8WTZ4 (See protein sequence)
Recommended Name: Putative inactive carbonic anhydrase 5B-like protein  
Size: 195 amino acids; 22622 Da
Caution: Could be the product of a pseudogene. Compared to other family members it is truncated and highly
divergent and thus is very unlikely to have catalytic activity
Secondary accessions: A6NEZ4

Explore the universe of human proteins at neXtProt for CA5BP1: NX_Q8WTZ4

Explore proteomics data for CA5BP1 at MOPED


See CA5BP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR018437 CA-VB_mt
 IPR001148 Carbonic_anhydrase_a
 IPR023561 Carbonic_anhydrase_a-class

Graphical View of Domain Structure for InterPro Entry Q8WTZ4

ProtoNet protein and cluster: Q8WTZ4

UniProtKB/Swiss-Prot: CA5BL_HUMAN, Q8WTZ4
Similarity: Belongs to the alpha-carbonic anhydrase family


Find genes that share domains with CA5BP1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004089carbonate dehydratase activity IEA--
GO:0008270zinc ion binding IEA--
     
Find genes that share ontologies with CA5BP1           About GenesLikeMe


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--

Find genes that share ontologies with CA5BP1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for CA5BP1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CA5BP1 (CA5BL)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000380336 ENST00000448692 ENST00000380334 ENST00000380333(uc011mir.1)
ENST00000380331 ENST00000435806
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Selected AceView cDNA sequences (see all 219):

BX112738 CK821282 AI565614 BC021816 BG032690 NM_007220 AW503003 AA463885 
AI860158 BU161068 AA206778 BX113332 AA661651 BC028142 AA576865 BP371510 
AA284040 CK902804 BU542020 AI688756 AI342518 AK125384 AA975463 AI831584 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CA5BP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTCTCCCCA
CA5BP1 Expression
About this image

CA5BP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CA5BP1 Protein Expression
    Custom PCR Arrays for CA5BP1
Primer
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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA5BP1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

ENSEMBL Gene Tree for CA5BP1 (if available)
TreeFam Gene Tree for CA5BP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CA5BP1 (see all 356)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1892510481,2
--15691063(+) ACCCTC/GAATTA 1 -- us2k10--------
rs1822705611,2
--15691217(+) TCCCAC/TGTAGC 1 -- us2k10--------
rs1385963601,2
--15691307(+) AAAAGC/GAAACA 1 -- us2k10--------
rs413207451,2
C,F,H--15691438(-) TGCACA/GCTTTC 1 -- us2k116Minor allele frequency- G:0.09NS EA NA 2064
rs15540871,2
C,F,A,H--15691682(-) ATGTTT/GCCAAT 1 -- us2k1 tfbs318Minor allele frequency- G:0.30NS EA NA WA CSA 1984
rs1128157761,2
C,F--15691744(+) TGTTTC/TGTTGA 1 -- us2k11Minor allele frequency- T:0.00CSA 1
rs1851527971,2
--15691763(+) TTTTAC/TTCTGT 1 -- us2k10--------
rs1900822991,2
--15691766(+) TACTCC/TGTGCT 1 -- us2k10--------
rs1811155851,2
--15691786(+) TCAATA/GTTGTG 1 -- us2k10--------
rs1856584071,2
--15691789(+) ATATTA/GTGAAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for CA5BP1 (15693039 - 15721847 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for CA5BP1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2739978CNV Deletion23290073
dgv2439e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CA5BP1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CA5BP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107413)1 Wistow G.... Peterson K. (Mol. Vis. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 340591 HGNC: 29544 AceView: CA5BandCA5BL Ensembl:ENSG00000186312 euGenes: HUgn340591
ECgene: CA5BP1 H-InvDB: CA5BP1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CA5BP1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CA5BP1 gene:
Search GeneIP for patents involving CA5BP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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