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    MROH5 maestro heat like repeat family member 5 (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 389690, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MROH5provided by HGNC
    Official Full Name
    maestro heat like repeat family member 5 (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:42976
    See related
    Ensembl:ENSG00000226807 AllianceGenome:HGNC:42976
    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
    Summary
    Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Annotation category: suggests misassembly
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Biased expression in testis (RPKM 3.5) and heart (RPKM 0.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See MROH5 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (141433825..141507229, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (142561183..142635781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (142443925..142517329, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142385104-142385878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142385879-142386654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142386655-142387429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142394223-142394840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142401193-142401813 Neighboring gene antisense transcript of PTP4A3, liver carcinoma survival associated Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142413010-142413773 Neighboring gene protein tyrosine phosphatase 4A3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:142417407-142417907 Neighboring gene VISTA enhancer hs1882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142441707-142442687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142443451-142444139 Neighboring gene Putative chemokine-related protein FP248 Neighboring gene uncharacterized LOC105375789 Neighboring gene small nucleolar RNA SNORD5 Neighboring gene heterogeneous nuclear ribonucleoprotein A1pseudogene 38 Neighboring gene CEB42 minisatellite repeat instability region Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142501938-142502812 Neighboring gene uncharacterized LOC124902031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142517660-142518180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19593 Neighboring gene uncharacterized LOC105375791

    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. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    2. Genome-scale RNAi screen for host factors required for HIV replication. Zhou H, et al. Cell Host Microbe, 2008 Nov 13. PMID 18976975
    3. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of FLJ43860 protein by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43860

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    maestro heat-like repeat family member 5

    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_207414.3 → NP_997297.2  maestro heat-like repeat family member 5

      See identical proteins and their annotated locations for NP_997297.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, coding) differs at a polymorphic nucleotide compared to the reference genome sequence and represents the protein coding allele.
      Source sequence(s)
      ABBA01013690, AC100803, AC138647, KF459654, KF459918
      UniProtKB/Swiss-Prot
      Q6ZUA9

    RNA

    1. NR_102363.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two internal exons and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC100803, AC138647, BC144560, KF459654, KF459918
      Related
      ENST00000521053.5

    2. NR_102364.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks four internal exons but it includes one additional exon, and it uses three alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC100803, AC138647, BC144560, KF459654, KF459918
      Related
      ENST00000523857.5

    3. NR_160399.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, non-coding) contains a polymorphic nt that creates an early termination codon compared to variant 1, coding. The resulting transcript is considered to be non-protein coding since it is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC100803, AC138647, KF459654, KF459918
      Related
      ENST00000430863.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      141433825..141507229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791786.1 Reference GRCh38.p14 PATCHES

      Range
      100379..173783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187574.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      106281..123607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      142561183..142635781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUA9.2 GenPept UniProtKB/Swiss-Prot:Q6ZUA9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials