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    MROH1 maestro heat like repeat family member 1 [ Homo sapiens (human) ]

    Gene ID: 727957, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MROH1provided by HGNC
    Official Full Name
    maestro heat like repeat family member 1provided by HGNC
    Primary source
    HGNC:HGNC:26958
    See related
    Ensembl:ENSG00000179832 AllianceGenome:HGNC:26958
    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
    HEATR7A
    Summary
    Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MROH1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144148016..144261926)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145314737..145430696)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145202919..145316829)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19664 Neighboring gene testis specific serine kinase 5, pseudogene Neighboring gene HGH1 homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145220181-145220332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145220890-145221390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145222845-145223346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145223347-145223846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145225713-145226214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145233092-145233905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145235445-145236162 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145236968-145237140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145239293-145239836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145321725-145322492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145322493-145323258 Neighboring gene microRNA 7112 Neighboring gene BOP1 ribosomal biogenesis factor Neighboring gene scleraxis bHLH transcription factor

    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. The HEAT repeat protein HPO-27 is a lysosome fission factor. Li L, et al. Nature, 2024 Apr. PMID 38538795
    2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
    5. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The HEAT repeat protein HPO-27 is a lysosome fission factor.
      Title: The HEAT repeat protein HPO-27 is a lysosome fission factor.
    2. 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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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Homology

    Clone Names

    • FLJ13324, FLJ35542, FLJ36244, FLJ36266, FLJ42560, KIAA1833, MGC50841, DKFZp434P167, DKFZp434I0113

    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-containing protein family member 1
    Names
    HEAT repeat containing 7A
    HEAT repeat-containing protein 7A

    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_001099280.3 → NP_001092750.2  maestro heat-like repeat-containing protein family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple exons but has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      AC104592
      Consensus CDS
      CCDS47939.1

    2. NM_001099281.3 → NP_001092751.2  maestro heat-like repeat-containing protein family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' UTR and multiple exons in the 3' half but has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      AC104592
      Consensus CDS
      CCDS47939.1
      Related
      ENSP00000388174.2, ENST00000423230.6

    3. NM_001288814.2 → NP_001275743.2  maestro heat-like repeat-containing protein family member 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon in the central region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC104592, AC145291
      Consensus CDS
      CCDS75803.1
      UniProtKB/TrEMBL
      E9PHY8
      Related
      ENSP00000436636.1, ENST00000534366.5

    4. NM_032450.3 → NP_115826.3  maestro heat-like repeat-containing protein family member 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC104592, AC145291, AL834309, CN333563, DA934047
      Consensus CDS
      CCDS47938.1
      UniProtKB/Swiss-Prot
      C9JWM5, D3DWL5, Q0P612, Q569G6, Q6NVW4, Q8N230, Q8NAD1, Q8ND95, Q8NDA8, Q96JJ4
      Related
      ENSP00000321737.5, ENST00000326134.10

    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
      144148016..144261926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422170.1 → XP_047278126.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    2. XM_047422189.1 → XP_047278145.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    3. XM_047422176.1 → XP_047278132.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    4. XM_047422179.1 → XP_047278135.1  maestro heat-like repeat-containing protein family member 1 isoform X4

    5. XM_047422182.1 → XP_047278138.1  maestro heat-like repeat-containing protein family member 1 isoform X6

      UniProtKB/TrEMBL
      E9PHY8

    6. XM_047422191.1 → XP_047278147.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    7. XM_047422172.1 → XP_047278128.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    8. XM_047422178.1 → XP_047278134.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    9. XM_047422185.1 → XP_047278141.1  maestro heat-like repeat-containing protein family member 1 isoform X6

      UniProtKB/TrEMBL
      E9PHY8

    10. XM_047422171.1 → XP_047278127.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    11. XM_047422175.1 → XP_047278131.1  maestro heat-like repeat-containing protein family member 1 isoform X2

    12. XM_047422181.1 → XP_047278137.1  maestro heat-like repeat-containing protein family member 1 isoform X5

      UniProtKB/Swiss-Prot
      C9JWM5, D3DWL5, Q0P612, Q569G6, Q6NVW4, Q8N230, Q8NAD1, Q8ND95, Q8NDA8, Q96JJ4

    13. XM_047422190.1 → XP_047278146.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    14. XM_047422177.1 → XP_047278133.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    15. XM_047422180.1 → XP_047278136.1  maestro heat-like repeat-containing protein family member 1 isoform X4

    16. XM_047422183.1 → XP_047278139.1  maestro heat-like repeat-containing protein family member 1 isoform X6

      UniProtKB/TrEMBL
      E9PHY8

    17. XM_047422193.1 → XP_047278149.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    18. XM_047422198.1 → XP_047278154.1  maestro heat-like repeat-containing protein family member 1 isoform X13

      Related
      ENST00000532255.5

    19. XM_047422199.1 → XP_047278155.1  maestro heat-like repeat-containing protein family member 1 isoform X16

    20. XM_047422173.1 → XP_047278129.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    21. XM_047422184.1 → XP_047278140.1  maestro heat-like repeat-containing protein family member 1 isoform X6

      UniProtKB/TrEMBL
      E9PHY8

    22. XM_047422192.1 → XP_047278148.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    23. XM_011517270.3 → XP_011515572.2  maestro heat-like repeat-containing protein family member 1 isoform X1

    24. XM_011517271.3 → XP_011515573.2  maestro heat-like repeat-containing protein family member 1 isoform X2

    25. XM_011517273.3 → XP_011515575.2  maestro heat-like repeat-containing protein family member 1 isoform X5

      UniProtKB/Swiss-Prot
      C9JWM5, D3DWL5, Q0P612, Q569G6, Q6NVW4, Q8N230, Q8NAD1, Q8ND95, Q8NDA8, Q96JJ4
      Related
      ENSP00000435565.1, ENST00000528919.5

    26. XM_047422168.1 → XP_047278124.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    27. XM_047422167.1 → XP_047278123.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    28. XM_017013802.3 → XP_016869291.2  maestro heat-like repeat-containing protein family member 1 isoform X4

    29. XM_011517274.3 → XP_011515576.2  maestro heat-like repeat-containing protein family member 1 isoform X6

      UniProtKB/TrEMBL
      E9PHY8

    30. XM_017013803.3 → XP_016869292.2  maestro heat-like repeat-containing protein family member 1 isoform X9

    31. XM_047422174.1 → XP_047278130.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    32. XM_047422169.1 → XP_047278125.1  maestro heat-like repeat-containing protein family member 1 isoform X8

    33. XM_047422186.1 → XP_047278142.1  maestro heat-like repeat-containing protein family member 1 isoform X10

    34. XM_047422194.1 → XP_047278150.1  maestro heat-like repeat-containing protein family member 1 isoform X12

    35. XM_047422195.1 → XP_047278151.1  maestro heat-like repeat-containing protein family member 1 isoform X13

    36. XM_047422196.1 → XP_047278152.1  maestro heat-like repeat-containing protein family member 1 isoform X14

    37. XM_047422197.1 → XP_047278153.1  maestro heat-like repeat-containing protein family member 1 isoform X15

    38. XM_011517286.3 → XP_011515588.2  maestro heat-like repeat-containing protein family member 1 isoform X17

    39. XM_047422187.1 → XP_047278143.1  maestro heat-like repeat-containing protein family member 1 isoform X11

    40. XM_047422188.1 → XP_047278144.1  maestro heat-like repeat-containing protein family member 1 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145314737..145430696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361144.1 → XP_054217119.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    2. XM_054361163.1 → XP_054217138.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    3. XM_054361150.1 → XP_054217125.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    4. XM_054361153.1 → XP_054217128.1  maestro heat-like repeat-containing protein family member 1 isoform X4

    5. XM_054361156.1 → XP_054217131.1  maestro heat-like repeat-containing protein family member 1 isoform X6

    6. XM_054361165.1 → XP_054217140.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    7. XM_054361146.1 → XP_054217121.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    8. XM_054361152.1 → XP_054217127.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    9. XM_054361159.1 → XP_054217134.1  maestro heat-like repeat-containing protein family member 1 isoform X6

    10. XM_054361145.1 → XP_054217120.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    11. XM_054361149.1 → XP_054217124.1  maestro heat-like repeat-containing protein family member 1 isoform X2

    12. XM_054361155.1 → XP_054217130.1  maestro heat-like repeat-containing protein family member 1 isoform X5

    13. XM_054361164.1 → XP_054217139.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    14. XM_054361151.1 → XP_054217126.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    15. XM_054361154.1 → XP_054217129.1  maestro heat-like repeat-containing protein family member 1 isoform X4

    16. XM_054361157.1 → XP_054217132.1  maestro heat-like repeat-containing protein family member 1 isoform X6

    17. XM_054361167.1 → XP_054217142.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    18. XM_054361172.1 → XP_054217147.1  maestro heat-like repeat-containing protein family member 1 isoform X13

    19. XM_054361173.1 → XP_054217148.1  maestro heat-like repeat-containing protein family member 1 isoform X16

    20. XM_054361147.1 → XP_054217122.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    21. XM_054361158.1 → XP_054217133.1  maestro heat-like repeat-containing protein family member 1 isoform X6

    22. XM_054361166.1 → XP_054217141.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    23. XM_054361135.1 → XP_054217110.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    24. XM_054361136.1 → XP_054217111.1  maestro heat-like repeat-containing protein family member 1 isoform X2

    25. XM_054361139.1 → XP_054217114.1  maestro heat-like repeat-containing protein family member 1 isoform X5

    26. XM_054361141.1 → XP_054217116.1  maestro heat-like repeat-containing protein family member 1 isoform X7

    27. XM_054361137.1 → XP_054217112.1  maestro heat-like repeat-containing protein family member 1 isoform X3

    28. XM_054361138.1 → XP_054217113.1  maestro heat-like repeat-containing protein family member 1 isoform X4

    29. XM_054361140.1 → XP_054217115.1  maestro heat-like repeat-containing protein family member 1 isoform X6

    30. XM_054361143.1 → XP_054217118.1  maestro heat-like repeat-containing protein family member 1 isoform X9

    31. XM_054361148.1 → XP_054217123.1  maestro heat-like repeat-containing protein family member 1 isoform X1

    32. XM_054361142.1 → XP_054217117.1  maestro heat-like repeat-containing protein family member 1 isoform X8

    33. XM_054361160.1 → XP_054217135.1  maestro heat-like repeat-containing protein family member 1 isoform X10

    34. XM_054361168.1 → XP_054217143.1  maestro heat-like repeat-containing protein family member 1 isoform X12

    35. XM_054361169.1 → XP_054217144.1  maestro heat-like repeat-containing protein family member 1 isoform X13

    36. XM_054361170.1 → XP_054217145.1  maestro heat-like repeat-containing protein family member 1 isoform X14

    37. XM_054361171.1 → XP_054217146.1  maestro heat-like repeat-containing protein family member 1 isoform X15

    38. XM_054361174.1 → XP_054217149.1  maestro heat-like repeat-containing protein family member 1 isoform X17

    39. XM_054361161.1 → XP_054217136.1  maestro heat-like repeat-containing protein family member 1 isoform X11

    40. XM_054361162.1 → XP_054217137.1  maestro heat-like repeat-containing protein family member 1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDA8.3 GenPept UniProtKB/Swiss-Prot:Q8NDA8

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