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    BMERB1 bMERB domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 89927, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BMERB1provided by HGNC
    Official Full Name
    bMERB domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:19213
    See related
    Ensembl:ENSG00000166780 AllianceGenome:HGNC:19213
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MINP; C16orf45
    Summary
    Predicted to be involved in negative regulation of microtubule depolymerization. Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 40.3), endometrium (RPKM 12.8) and 21 other tissues See more
    Orthologs
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    Genomic context

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    See BMERB1 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15434588..15588259)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15439375..15593064)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15528445..15682116)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene nuclear pore complex interacting protein family member A5 Neighboring gene MPV17L-BMERB1 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15506027-15506244 Neighboring gene MPV17 mitochondrial inner membrane protein like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15528749-15529371 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 Neighboring gene Sharpr-MPRA regulatory region 1380 Neighboring gene uncharacterized LOC105371102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15603978-15604478 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15607777-15607948 Neighboring gene NANOG hESC enhancer GRCh37_chr16:15632973-15633474 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:15636050-15636595 Neighboring gene Sharpr-MPRA regulatory region 9672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15673003-15673503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15680941-15681442 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15684383-15685582 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:15693082-15694281 Neighboring gene Sharpr-MPRA regulatory region 10508 Neighboring gene meiosis regulator and mRNA stability factor 1 Neighboring gene microRNA 6506 Neighboring gene uncharacterized LOC124903649

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. bMERB domains are bivalent Rab8 family effectors evolved by gene duplication. Rai A, et al. Elife, 2016 Aug 23. PMID 27552051, Free PMC Article
    2. The newly identified migration inhibitory protein regulates the radial migration in the developing neocortex. Zhang S, et al. Sci Rep, 2014 Aug 7. PMID 25099998, Free PMC Article
    3. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. Guan W, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24823311, Free PMC Article
    4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough MPV17L-BMERB1

    Readthrough gene: MPV17L-BMERB1, Included gene: MPV17L

    Homology

    Clone Names

    • FLJ32618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell motility involved in cerebral cortex radial glia guided migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell motility involved in cerebral cortex radial glia guided migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of microtubule depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    bMERB domain-containing protein 1
    Names
    migration inhibitory protein
    uncharacterized protein C16orf45

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142469.2 → NP_001135941.1  bMERB domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001135941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI377644, BC023603
      Consensus CDS
      CCDS45422.1
      UniProtKB/Swiss-Prot
      Q96MC5
      Related
      ENSP00000408976.2, ENST00000452191.6
      Conserved Domains (1) summary
      pfam12130
      Location:47 → 131
      DUF3585; Protein of unknown function (DUF3585)

    2. NM_033201.3 → NP_149978.1  bMERB domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_149978.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI377644, AK057180, BC008967
      Consensus CDS
      CCDS10561.1
      UniProtKB/Swiss-Prot
      O00223, O75769, Q8IZ36, Q96H25, Q96MC5
      Related
      ENSP00000300006.4, ENST00000300006.9
      Conserved Domains (1) summary
      pfam12130
      Location:64 → 148
      DUF3585; Protein of unknown function (DUF3585)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15434588..15588259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1092565..1246252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15439375..15593064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MC5.1 GenPept UniProtKB/Swiss-Prot:Q96MC5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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