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MBL1P Gene

pseudogene   GIFtS: 22
GCID: GC10P081776

Mannose-Binding Lectin (Protein A) 1, Pseudogene

(Previous names: mannose-binding lectin (protein A) 1, pseudogene 1)
(Previous symbol: MBL1P1)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(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): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mannose-Binding Lectin (Protein A) 1, Pseudogene1 2
MBL1P11 2
Mannose-Binding Lectin (Protein A) 1, Pseudogene 11
COLEC3P2

External Ids:    HGNC: 69211   Entrez Gene: 85122   Ensembl: ENSG000002426007   
ORGUL members:         

Export aliases for MBL1P gene to outside databases

Previous GC identifers: GC10P081671 GC10P081667 GC10P081673 GC10P075522


(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 MBL1P Gene:
MBL1P (mannose-binding lectin (protein A) 1, pseudogene) is a pseudogene, and is affiliated with the antisense RNA class. Diseases associated with MBL1P include hepatitis b virus infection, and hepatitis b.


(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 MBL1P
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MBL1P

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBL1P


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

Entrez Gene cytogenetic band: 10q22.3   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22.3

MBL1P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBL1P gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P081776:  view genomic region     (about GC identifiers)

Start:
81,664,654 bp from pter      End:
81,710,092 bp from pter
Size:
45,439 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MBL1P

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
COLEC: Collectins

  --

(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for MBL1P:
 Synthetic lethal with Ras 

     6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mbl1):
 hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  no phenotypic analysis 
 renal/urinary system 

MBL1P for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for MBL1P: Mbl1tm1Rala Mbl1tm1Mnz Mbl1tm1.1Mnz Mbl1tm1Kata

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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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  --

(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBL1P
Interactions:

    Search GeneGlobe Interaction Network for MBL1P

(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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(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000453174(uc021puw.1) ENST00000480805(uc001kbg.1) ENST00000497731
ENST00000421889

miRNA
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21 AceView cDNA sequences:

BU621784 BU580377 AA699400 BQ631805 AF019382 BC071736 BX102447 BX117567 
BV205084 BI823033 BX281221 BU580833 CB242166 AI634387 BQ778042 AI827048 
H92757 AI286161 AA628220 BF909938 AW104610 

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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MBL1P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MBL1P Expression
About this image

MBL1P Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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In Situ
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(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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This gene was present in the common ancestor of human and mouse.

Orthologs for MBL1P gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mbl15 mannose-binding lectin (protein A) 1   --   14 (22.36 cM) 41151456 


ENSEMBL Gene Tree for MBL1P (if available)
TreeFam Gene Tree for MBL1P (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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Structural Variations
     Database of Genomic Variants (DGV) 4 variations for MBL1P:    About this table    
Variant IDTypeSubtypePubMed ID
nsv831922CNV Loss17160897
nsv895802CNV Gain21882294
nsv467391CNV Gain19166990
nsv895801CNV Gain21882294

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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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3 diseases for MBL1P:    
About MalaCards
hepatitis b virus infection    hepatitis b    hepatitis


MBL1P for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Human Genome Epidemiology (HuGE) Navigator: MBL1P (0 documents)

Export disorders for MBL1P gene to outside databases

(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 MBL1P gene integrated from 10 sources:
(articles sorted by number of sources associating them with MBL1P)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to chromosome 10. (PubMed id 9501312)1, 3 Guo N....Sastry K.N. (Mamm. Genome 1998)
  2. The 'involution' of mannose-binding lectin. (PubMed id 16115813)1, 9 Seyfarth J....Madsen H.O. (Hum. Mol. Genet. 2005)
  3. Mannose-binding lectin gene polymorphisms and mycobacterial lymphadenitis in young patients. (PubMed id 24008740)1 You H.L....Eng H.L. (Pediatr. Infect. Dis. J. 2013)
  4. MBL1 gene in nonhuman primates. (PubMed id 21889966)1 Segat L. and Crovella S. (Hum. Immunol. 2011)
  5. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PubMed id 20210993)1 Zhang Z.D....Gerstein M. (Genome Biol. 2010)
  6. Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population. (PubMed id 15716605)1 Cheong J.Y....Kim J.H. (J. Korean Med. Sci. 2005)
  7. The effect of mannan-binding lectin variant alleles on coronary artery reactivity in healthy young men. (PubMed id 15458704)1 Aittoniemi J....LehtimAoki T. (Int. J. Cardiol. 2004)

(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: 8512 HGNC: 6921 AceView: MBL1P1 Ensembl:ENSG00000242600 euGenes: HUgn8512
ECgene: MBL1P H-InvDB: MBL1P

(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 MBL1P 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 MBL1P gene:
Search GeneIP for patents involving MBL1P

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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