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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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for MBLAC1 Gene

Promoters and enhancers for MBLAC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100124 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 580.3 0.0 -21 4.6 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B MBLAC1 ENSG00000242798 TRIM4 ZNF655 SRRT ZSCAN25 ZNF3 GIGYF1 STAG3L5P PCOLCE
GH07I100427 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 32.4 +306.5 306505 10.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PPP1R35 MEPCE PIR54054 ZCWPW1 ZSCAN25 TRIM4 SRRT GIGYF1 ZNF3 PILRA
GH07I100672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 29.3 +550.3 550298 8.6 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 GNB2 GC07P100676 TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798
GH07I100153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26 +29.6 29635 6.4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 POLR2B C7orf43 MIR4658 PIR34225 ZNF3 GIGYF1 AP4M1 ZNF655 ENSG00000242798 ZSCAN25 MBLAC1
GH07I100085 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 21.3 -37.8 -37832 6.6 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 POLR2B COPS6 ZNF3 AP4M1 ZSCAN25 ZNF655 TRIM4 STAG3L5P GIGYF1 SRRT PCOLCE
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MBLAC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBLAC1 gene promoter:

Genomic Locations for MBLAC1 Gene

Genomic Locations for MBLAC1 Gene
chr7:100,126,694-100,128,724
(GRCh38/hg38)
Size:
2,031 bases
Orientation:
Plus strand
chr7:99,724,317-99,726,121
(GRCh37/hg19)

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

No Post-translational modifications

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

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

Clone Products

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:

Clone Products

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

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 Variation AA Info Type
rs1000392813 -- 100,128,116(+) G/T coding_sequence_variant, missense_variant
rs1000694652 -- 100,126,631(+) A/G upstream_transcript_variant
rs1001735567 -- 100,125,562(+) G/A upstream_transcript_variant
rs1002288845 -- 100,125,423(+) T/C upstream_transcript_variant
rs1002674646 -- 100,126,929(+) G/A 5_prime_UTR_variant

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

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

Variation tolerance for MBLAC1 Gene

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

Additional Variant Information 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

Additional Disease Information for 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 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  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 58
  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 58
  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 58

Products for MBLAC1 Gene

Sources for MBLAC1 Gene

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