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

Gene ID: 89927, updated on 5-Mar-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 act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration and negative regulation of microtubule depolymerization. Predicted to be located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
16p13.11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15434588..15588259)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15439375..15593064)
105.20220307 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
  • 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 (17) 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_2023_10

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

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