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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBLAC1 Gene

protein-coding   GIFtS: 34
GCID: GC07P099724

metallo-beta-lactamase domain containing 1

  Search for MBLAC1
in our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Metallo-Beta-Lactamase Domain Containing 11 2
MGC494161
Metallo-Beta-Lactamase Domain-Containing Protein 12
EC 3.-.-.-3

External Ids:    HGNC: 221801   Entrez Gene: 2553742   Ensembl: ENSG000002143097   UniProtKB: A4D2B03   

Export aliases for MBLAC1 gene to outside databases

Previous GC identifers: GC07P099563 GC07P094359


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBLAC1 gene promoter:
         Max1   Tal-1beta   Arnt   E47   CREB   POU2F1   POU2F1a   c-Myc   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MBLAC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBLAC1


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

MBLAC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBLAC1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P099724:  view genomic region     (about GC identifiers)

Start:
99,724,317 bp from pter      End:
99,726,121 bp from pter
Size:
1,805 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,084,436-99,086,240     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MBLC1_HUMAN, A4D2B0 (See protein sequence)
Recommended Name: Metallo-beta-lactamase domain-containing protein 1  
Size: 266 amino acids; 27202 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Secondary accessions: Q8N5X8

Explore the universe of human proteins at neXtProt for MBLAC1: NX_A4D2B0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A4D2B0

  • MBLAC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_981942.1  
    ENSEMBL proteins: 
     ENSP00000381150   ENSP00000406055  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MBLAC1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001279 Beta-lactamas-like

    Graphical View of Domain Structure for InterPro Entry A4D2B0

    ProtoNet protein and cluster: A4D2B0

    UniProtKB/Swiss-Prot: MBLC1_HUMAN, A4D2B0
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Enzyme Number (IUBMB): EC 3.-.-.-1

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--


    MBLAC1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MBLAC1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about MBLAC1 / MBLC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for MBLAC1 gene: 
    NM_203397.1  

    Unigene Cluster for MBLAC1:

    Metallo-beta-lactamase domain containing 1
    Hs.632319  [show with all ESTs]
    Unigene Representative Sequence: NM_203397
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398075(uc003utp.3) ENST00000421390

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    Additional cDNA sequence: BC031288.1 

    2 DOTS entries:

    DT.86858903  DT.100663512 

    11 AceView cDNA sequences:

    AW772344 BM547133 BQ441096 BI603487 BC031288 BF754820 CB269491 AW449216 
    BI666652 BG953759 BQ333210 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MBLAC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGACCGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MBLAC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBLAC1

    SOURCE GeneReport for Unigene cluster: Hs.632319
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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MBLAC1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mblac11 , 5 metallo-beta-lactamase domain containing 11, 5 78.89(n)1
    78.33(a)1
      5 (76.98 cM)5
    3302161  NM_177878.31  NP_808546.11 
     1381943145 
    chicken
    (Gallus gallus)
    Aves LOC1008587831 metallo-beta-lactamase domain-containing protein 1-like 64.26(n)
    59.62(a)
      100858783  XM_003643511.1  XP_003643559.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBLAC16
    --
    59(a)
    1 ↔ 1
    AAWZ02039535(5533-6177)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5642001 metallo-beta-lactamase domain-containing protein 1-like 56.58(n)
    56.92(a)
      564200  XM_687548.5  XP_692640.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91171 CG9117 50(n)
    40.31(a)
      33846  NM_135139.3  NP_608983.2 
    worm
    (Caenorhabditis elegans)
    Secernentea B0432.96
    F53B1.66
    (see all 4)
    Protein F53B1.6
    (see all 4)
    29(a)
    18(a)
    (see all 4)
    1 ↔ 1
    possible ortholog
    (see all 4)
    II(282576-283697)
    X(2114537-2118251)


    ENSEMBL Gene Tree for MBLAC1 (if available)
    TreeFam Gene Tree for MBLAC1 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/42 NCBI SNPs in MBLAC1 are shown (see all 42    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs602130591,2
    --99723790(+) GGTGAC/TAGAGC 1 -- us2k10--------
    rs99692071,2
    C--99723838(+) tgggcG/Acctgt 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs117645931,2
    C,F,H--99723973(+) AAAAAC/ACAAAA 1 -- us2k13Minor allele frequency- A:0.01NS NA 268
    rs340647811,2
    C,--99724001(+) GCACGC/TCTGTA 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1166952031,2
    F,--99724146(+) GGCGCG/AGTGGC 1 -- us2k11Minor allele frequency- A:0.28WA 118
    rs354274551,2
    C,F--99724151(+) GGTGGC/ATCACA 1 -- us2k13Minor allele frequency- A:0.33NA 6
    rs117681861,2
    C,H,--99724167(+) aatccC/Tagcac 1 -- us2k10--------
    rs1851622781,2
    --99724172(+) TAGCAC/TTTCAG 1 -- us2k10--------
    rs1900493491,2
    --99724302(+) TGGTGC/TGCATC 1 -- us2k10--------
    rs1823217211,2
    --99724360(+) CCAGGA/CGGTTG 1 -- ut510--------

    HapMap Linkage Disequilibrium report for MBLAC1 (99724317 - 99726121 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MBLAC1
         1 CNV: 2104

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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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for MBLAC1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MBLAC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    2. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    3. 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. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 255374 HGNC: 22180 AceView: LOC255374 Ensembl:ENSG00000214309 euGenes: HUgn255374
    ECgene: MBLAC1 H-InvDB: MBLAC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MBLAC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBLAC1 gene:
    Search GeneIP for patents involving MBLAC1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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