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Aliases for MBLAC1 Gene

Aliases for MBLAC1 Gene

  • Metallo-Beta-Lactamase Domain Containing 1 2 3 5
  • EC 3.-.-.- 4

External Ids for MBLAC1 Gene

Previous GeneCards Identifiers for MBLAC1 Gene

  • GC07P099563
  • GC07P099724
  • GC07P094359

Summaries for MBLAC1 Gene

GeneCards Summary for MBLAC1 Gene

MBLAC1 (Metallo-Beta-Lactamase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity.

Additional gene information for MBLAC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBLAC1 Gene

Genomics for MBLAC1 Gene

Regulatory Elements for MBLAC1 Gene

Enhancers for MBLAC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H100427 1.5 ENCODE dbSUPER 32.4 +306.5 306506 10 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZC3H11A ZSCAN25 SRRT GIGYF1 TRIM4 AP4M1 PILRA LOC100131859 ZNF3 PPP1R35 ZSCAN21
GH07H100672 1.4 ENCODE dbSUPER 29.3 +550.3 550299 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 ZC3H11A MEF2D TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798 AP4M1 ZAN
GH07H100124 1.1 ENCODE 30.2 0.0 -21 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS TRIM4 MBLAC1 ZSCAN25 GIGYF1 SRRT AP4M1 ENSG00000242798 ZNF655 CNPY4 LOC100131859
GH07H100343 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +218.3 218338 2 HDGF PKNOX1 ATF1 ARNT SIN3A FEZF1 GLI4 ZNF2 TCF12 GLIS2 PILRA C7orf43 MBLAC1 ZCWPW1 MEPCE FAM200A LAMTOR4 ENSG00000241357 GPC2 GAL3ST4
GH07H100085 1.4 FANTOM5 ENCODE 21.3 -37.8 -37832 6 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 CBX5 AP4M1 MBLAC1 STAG3L5P ZSCAN25 ZNF3 ZNF655 TRIM4 GIGYF1 PCOLCE LOC100131859
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBLAC1 on UCSC Golden Path with GeneCards custom track

Promoters for MBLAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215742 506 2001 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SP3

Genomic Location for MBLAC1 Gene

Chromosome:
7
Start:
100,126,694 bp from pter
End:
100,128,724 bp from pter
Size:
2,031 bases
Orientation:
Plus strand

Genomic View for MBLAC1 Gene

Genes around MBLAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBLAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBLAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBLAC1 Gene

Proteins for MBLAC1 Gene

  • Protein details for MBLAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D2B0-MBLC1_HUMAN
    Recommended name:
    Metallo-beta-lactamase domain-containing protein 1
    Protein Accession:
    A4D2B0
    Secondary Accessions:
    • Q8N5X8

    Protein attributes for MBLAC1 Gene

    Size:
    266 amino acids
    Molecular mass:
    27202 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MBLAC1 Gene

neXtProt entry for MBLAC1 Gene

Post-translational modifications for MBLAC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBLAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MBLAC1 Gene

Domains & Families for MBLAC1 Gene

Gene Families for MBLAC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MBLAC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBLAC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A4D2B0

UniProtKB/Swiss-Prot:

MBLC1_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with MBLAC1: view

Function for MBLAC1 Gene

Enzyme Numbers (IUBMB) for MBLAC1 Gene

Phenotypes From GWAS Catalog for MBLAC1 Gene

Gene Ontology (GO) - Molecular Function for MBLAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBLAC1: view

Phenotypes for MBLAC1 Gene

GenomeRNAi human phenotypes for MBLAC1:
genes like me logo Genes that share phenotypes with MBLAC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MBLAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MBLAC1 Gene

Localization for MBLAC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBLAC1 gene
Compartment Confidence
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MBLAC1 Gene

Pathways & Interactions for MBLAC1 Gene

SuperPathways for MBLAC1 Gene

No Data Available

Interacting Proteins for MBLAC1 Gene

Gene Ontology (GO) - Biological Process for MBLAC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MBLAC1 Gene

Drugs & Compounds for MBLAC1 Gene

No Compound Related Data Available

Transcripts for MBLAC1 Gene

mRNA/cDNA for MBLAC1 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MBLAC1 Gene

Metallo-beta-lactamase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MBLAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MBLAC1 Gene

No ASD Table

Relevant External Links for MBLAC1 Gene

GeneLoc Exon Structure for
MBLAC1
ECgene alternative splicing isoforms for
MBLAC1

Expression for MBLAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBLAC1 Gene

Protein differential expression in normal tissues from HIPED for MBLAC1 Gene

This gene is overexpressed in Seminal vesicle (27.9), Skin (18.6), and Prostate (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MBLAC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MBLAC1 Gene:

MBLAC1

SOURCE GeneReport for Unigene cluster for MBLAC1 Gene:

Hs.632319

Evidence on tissue expression from TISSUES for MBLAC1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with MBLAC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBLAC1 Gene

Orthologs for MBLAC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBLAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBLAC1 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia MBLAC1 33
  • 85.77 (n)
cow
(Bos Taurus)
Mammalia MBLAC1 33 34
  • 85.58 (n)
mouse
(Mus musculus)
Mammalia Mblac1 33 16 34
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Mblac1 33
  • 77.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MBLAC1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBLAC1 33
  • 64.1 (n)
lizard
(Anolis carolinensis)
Reptilia MBLAC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mblac1 33
  • 57.7 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC564200 33
  • 56.18 (n)
MBLAC1 34
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9117 33 34
  • 50.7 (n)
worm
(Caenorhabditis elegans)
Secernentea B0432.9 34
  • 29 (a)
OneToMany
F53B1.6 34
  • 19 (a)
OneToMany
C03F11.2 34
  • 16 (a)
OneToMany
C23H3.9 34
  • 14 (a)
OneToMany
Species where no ortholog for MBLAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBLAC1 Gene

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

Paralogs for MBLAC1 Gene

No data available for Paralogs for MBLAC1 Gene

Variants for MBLAC1 Gene

Sequence variations from dbSNP and Humsavar for MBLAC1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000392813 -- 100,128,116(+) GGGAA(G/T)CCTCG reference, missense
rs1000694652 -- 100,126,631(+) CTCCA(A/G)AAAAA upstream-variant-2KB
rs1001735567 -- 100,125,562(+) TGGTC(A/G)ATGAG intron-variant, upstream-variant-2KB
rs1002288845 -- 100,125,423(+) TAAGC(C/T)CAATG upstream-variant-2KB, utr-variant-3-prime
rs1002674646 -- 100,126,929(+) GCGCC(A/G)GAACT utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MBLAC1 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv469687 CNV loss 16826518
nsv607931 CNV loss 21841781

Variation tolerance for MBLAC1 Gene

Gene Damage Index Score: 4.45; 64.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBLAC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBLAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBLAC1 Gene

Disorders for MBLAC1 Gene

Relevant External Links for MBLAC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBLAC1

No disorders were found for MBLAC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MBLAC1 Gene

Publications for MBLAC1 Gene

  1. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for MBLAC1 Gene

Sources for MBLAC1 Gene

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