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    MROH7 maestro heat like repeat family member 7 [ Homo sapiens (human) ]

    Gene ID: 374977, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MROH7provided by HGNC
    Official Full Name
    maestro heat like repeat family member 7provided by HGNC
    Primary source
    HGNC:HGNC:24802
    See related
    Ensembl:ENSG00000184313 AllianceGenome:HGNC:24802
    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
    HEATR8; C1orf175
    Summary
    Located in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 43.4), thyroid (RPKM 2.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See MROH7 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54641786..54710266)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54522014..54590520)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55107459..55175939)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 920 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 63 Neighboring gene acyl-CoA thioesterase 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55035141-55035653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55037069-55037592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55037593-55038114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55044894-55045404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55045405-55045913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55059979-55060801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1065 Neighboring gene family with sequence similarity 151 member A Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:55102633-55103264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106005-55106518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55106519-55107031 Neighboring gene MPRA-validated peak242 silencer Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55145240-55146100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55163752-55164252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55164253-55164753 Neighboring gene MPRA-validated peak243 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55181271-55181772 Neighboring gene tetratricopeptide repeat domain 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55229956-55230579 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial

    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. A genome-wide association study of behavioral disinhibition. McGue M, et al. Behav Genet, 2013 Sep. PMID 23942779, Free PMC Article
    2. LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy. Chen Y, et al. Nat Cell Biol, 2020 Oct. PMID 33005030, Free PMC Article
    3. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Böhm D, et al. Oncol Rep, 2012 Aug. PMID 22664934, Free PMC Article
    4. Systematic Determination of Human Cyclin Dependent Kinase (CDK)-9 Interactome Identifies Novel Functions in RNA Splicing Mediated by the DEAD Box (DDX)-5/17 RNA Helicases. Yang J, et al. Mol Cell Proteomics, 2015 Oct. PMID 26209609, Free PMC Article
    5. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    A genome-wide association study of behavioral disinhibition.
    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 MROH7-TTC4

    Readthrough gene: MROH7-TTC4, Included gene: TTC4

    Potential readthrough

    Included gene: ACOT11

    Homology

    Clone Names

    • FLJ45063, FLJ46354, DKFZp434K085, DKFZp686L2332, DKFZp781B0622

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    maestro heat-like repeat-containing protein family member 7
    Names
    HEAT repeat-containing protein 8

    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_001039464.4 → NP_001034553.3  maestro heat-like repeat-containing protein family member 7 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL139244, AL590093
      Consensus CDS
      CCDS41342.2
      UniProtKB/Swiss-Prot
      A0AUX8, Q5TA99, Q68CQ1, Q6ZP40, Q6ZRH6, Q8N311, Q8NA14
      UniProtKB/TrEMBL
      B7Z7S6
      Related
      ENSP00000396622.2, ENST00000421030.7

    2. NM_001291332.2 → NP_001278261.1  maestro heat-like repeat-containing protein family member 7 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains multiple differences in the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL139244, AL590093
      UniProtKB/TrEMBL
      B4DXB3
      Related
      ENSP00000387048.1, ENST00000409996.5

    RNA

    1. NR_026782.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 5'-most exon and in a central exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139244, AL590093
      Related
      ENST00000422659.5

    2. NR_111931.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139244, AL590093
      Related
      ENST00000440047.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54641786..54710266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54522014..54590520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198547.1: Suppressed sequence

      Description
      NM_198547.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CQ1.4 GenPept UniProtKB/Swiss-Prot:Q68CQ1

    Gene LinkOut

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

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