Aliases for BMERB1 Gene

Aliases for BMERB1 Gene

  • BMERB Domain Containing 1 2 3 5
  • BMERB Domain-Containing Protein 1 3 4
  • C16orf45 3 4
  • Chromosome 16 Open Reading Frame 45 2
  • Uncharacterized Protein C16orf45 3
  • Migration Inhibitory Protein 3
  • MINP 3

External Ids for BMERB1 Gene

Previous HGNC Symbols for BMERB1 Gene

  • C16orf45

Summaries for BMERB1 Gene

GeneCards Summary for BMERB1 Gene

BMERB1 (BMERB Domain Containing 1) is a Protein Coding gene. Diseases associated with BMERB1 include Corneal Dystrophy, Lisch Epithelial.

Additional gene information for BMERB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMERB1 Gene

Genomics for BMERB1 Gene

GeneHancer (GH) Regulatory Elements for BMERB1 Gene

Promoters and enhancers for BMERB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMERB1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BMERB1 Gene

Genomic Locations for BMERB1 Gene
chr16:15,434,468-15,625,028
(GRCh38/hg38)
Size:
190,561 bases
Orientation:
Plus strand
chr16:15,528,152-15,718,885
(GRCh37/hg19)
Size:
190,734 bases
Orientation:
Plus strand

Genomic View for BMERB1 Gene

Genes around BMERB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMERB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMERB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMERB1 Gene

Proteins for BMERB1 Gene

  • Protein details for BMERB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MC5-MERB1_HUMAN
    Recommended name:
    bMERB domain-containing protein 1
    Protein Accession:
    Q96MC5
    Secondary Accessions:
    • O00223
    • O75769
    • Q8IZ36
    • Q96H25

    Protein attributes for BMERB1 Gene

    Size:
    204 amino acids
    Molecular mass:
    23732 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC31663.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BMERB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMERB1 Gene

Post-translational modifications for BMERB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BMERB1 Gene

Domains & Families for BMERB1 Gene

Gene Families for BMERB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BMERB1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with BMERB1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BMERB1 Gene

Function for BMERB1 Gene

Phenotypes From GWAS Catalog for BMERB1 Gene

Gene Ontology (GO) - Molecular Function for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24722188
genes like me logo Genes that share ontologies with BMERB1: view
genes like me logo Genes that share phenotypes with BMERB1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMERB1 Gene

Localization for BMERB1 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 BMERB1 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 2
peroxisome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with BMERB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMERB1 Gene

Pathways & Interactions for BMERB1 Gene

PathCards logo

SuperPathways for BMERB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BMERB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007026 negative regulation of microtubule depolymerization IEA --
GO:0021822 negative regulation of cell motility involved in cerebral cortex radial glia guided migration IEA --
genes like me logo Genes that share ontologies with BMERB1: view

No data available for Pathways by source and SIGNOR curated interactions for BMERB1 Gene

Drugs & Compounds for BMERB1 Gene

No Compound Related Data Available

Transcripts for BMERB1 Gene

mRNA/cDNA for BMERB1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMERB1 Gene

No ASD Table

Relevant External Links for BMERB1 Gene

GeneLoc Exon Structure for
BMERB1
ECgene alternative splicing isoforms for
BMERB1

Expression for BMERB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of BMERB1 Gene:

BMERB1

SOURCE GeneReport for Unigene cluster for BMERB1 Gene:

Hs.401798

Evidence on tissue expression from TISSUES for BMERB1 Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Stomach(4.2)
  • Lung(3)
  • Heart(2.8)
  • Kidney(2.6)
  • Liver(2.6)
  • Gall bladder(2.5)
  • Blood(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with BMERB1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMERB1 Gene

Orthologs for BMERB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BMERB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C16ORF45 33
  • 100 (a)
OneToOne
C16H16orf45 32
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia C16orf45 33
  • 97 (a)
OneToOne
C6H16orf45 32
  • 92.48 (n)
oppossum
(Monodelphis domestica)
Mammalia C16orf45 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C25H16orf45 32
  • 93.65 (n)
MGC140681 33
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2900011O08Rik 33 32
  • 91.46 (n)
OneToOne
Bmerb1 17
rat
(Rattus norvegicus)
Mammalia RGD1305733 32
  • 91.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C16orf45 33
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves C16ORF45 33 32
  • 77.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C16orf45 33
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c16orf45 32
  • 73.1 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:114175 32
  • 65.58 (n)
C6H16orf45 33
  • 60 (a)
OneToOne
Species where no ortholog for BMERB1 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BMERB1 Gene

ENSEMBL:
Gene Tree for BMERB1 (if available)
TreeFam:
Gene Tree for BMERB1 (if available)

Paralogs for BMERB1 Gene

No data available for Paralogs for BMERB1 Gene

Variants for BMERB1 Gene

Sequence variations from dbSNP and Humsavar for BMERB1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000024287 -- 15,587,867(+) G/A 3_prime_UTR_variant
rs1000027925 -- 15,528,908(+) G/A intron_variant
rs1000029509 -- 15,493,410(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000036730 -- 15,504,750(+) G/C intron_variant
rs1000036995 -- 15,535,462(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BMERB1 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
esv2671884 CNV deletion 23128226
esv2678976 CNV deletion 23128226
esv2714015 CNV deletion 23290073
esv2714016 CNV deletion 23290073
esv3638032 CNV gain 21293372
esv3638033 CNV gain 21293372
esv3638034 CNV gain 21293372
esv3638035 CNV loss 21293372
esv3638036 CNV gain 21293372
esv3638037 CNV loss 21293372
nsv1035393 CNV gain 25217958
nsv1040547 CNV gain 25217958
nsv1045440 CNV gain 25217958
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1125134 CNV deletion 24896259
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv510677 CNV deletion 20534489
nsv827568 CNV loss 20364138
nsv833147 CNV loss 17160897
nsv974766 CNV duplication 23825009
nsv977122 CNV duplication 23825009

Variation tolerance for BMERB1 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMERB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMERB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMERB1 Gene

Disorders for BMERB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BMERB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, lisch epithelial
  • lecd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with BMERB1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for BMERB1 Gene

Publications for BMERB1 Gene

  1. bMERB domains are bivalent Rab8 family effectors evolved by gene duplication. (PMID: 27552051) Rai A … Müller MP (eLife 2016) 2 3 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. 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) 3 4 56
  4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 3 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

No data available for External Links for BMERB1 Gene

Products for BMERB1 Gene

Sources for BMERB1 Gene