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    MYBL1 MYB proto-oncogene like 1 [ Homo sapiens (human) ]

    Gene ID: 4603, updated on 2-May-2024

    Summary

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    Official Symbol
    MYBL1provided by HGNC
    Official Full Name
    MYB proto-oncogene like 1provided by HGNC
    Primary source
    HGNC:HGNC:7547
    See related
    Ensembl:ENSG00000185697 MIM:159405; AllianceGenome:HGNC:7547
    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
    AMYB; A-MYB
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 9.0), testis (RPKM 6.1) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYBL1 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66562175..66613218, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66987925..67038972, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67474410..67525453, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1324, pseudogene Neighboring gene uncharacterized LOC124901955 Neighboring gene vexin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67453792-67454308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27482 Neighboring gene MPRA-validated peak7058 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:67504290-67504448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19254 Neighboring gene uncharacterized LOC105375884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27485 Neighboring gene valosin containing protein interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27490

    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. Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments. Wang T, et al. Front Immunol, 2022. PMID 36591240, Free PMC Article
    2. Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts. Kyrpychova L, et al. Am J Dermatopathol, 2018 Oct. PMID 29570128
    3. O-Linked N-Acetylglucosamine (O-GlcNAc) Expression Levels Epigenetically Regulate Colon Cancer Tumorigenesis by Affecting the Cancer Stem Cell Compartment via Modulating Expression of Transcriptional Factor MYBL1. Guo H, et al. J Biol Chem, 2017 Mar 10. PMID 28096468, Free PMC Article
    4. Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. Ramkissoon LA, et al. Proc Natl Acad Sci U S A, 2013 May 14. PMID 23633565, Free PMC Article
    5. The human A-myb protein is a strong activator of transcription. Golay J, et al. Oncogene, 1994 Sep. PMID 8058310

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes' Relationship to Alterations Identified at the Chromosome 8q Loci.
      Title: Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes' Relationship to Alterations Identified at the Chromosome 8q Loci.
    2. Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases.
      Title: Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases.
    3. Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments.
      Title: Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments.
    4. MYBL1 induces transcriptional activation of ANGPT2 to promote tumor angiogenesis and confer sorafenib resistance in human hepatocellular carcinoma.
      Title: MYBL1 induces transcriptional activation of ANGPT2 to promote tumor angiogenesis and confer sorafenib resistance in human hepatocellular carcinoma.
    5. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
      Title: Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
    6. A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration.
      Title: A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration.
    7. These findings suggest that rearrangement involving MYB or MYBL1 is a hallmark of tracheobronchial adenoid cystic carcinoma.
      Title: Detecting MYB and MYBL1 fusion genes in tracheobronchial adenoid cystic carcinoma by targeted RNA-sequencing.
    8. Breast adenoid cystic carcinomas probably constitute a convergent phenotype, whereby activation of MYB and MYBL1 and their downstream targets can be driven by the MYB-NFIB fusion gene, MYBL1 rearrangements, MYB amplification, or other yet to be identified mechanisms.
      Title: MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.
    9. In the present study, MYB or MYBL1 locus rearrangement was detected in nearly all adenoid cystic carcinoma cases, and therefore it would be a good diagnostic marker for adenoid cystic carcinoma.
      Title: MYB and MYBL1 in adenoid cystic carcinoma: diversity in the mode of genomic rearrangement and transcripts.
    10. MYBL1 alterations are detected in primary cutaneous adenoid cystic carcinoma but are apparently less common compared with MYB and NFIB alterations.
      Title: Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120059, MGC120061

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of piRNA transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myb-related protein A
    Names
    myb-like protein 1
    v-myb avian myeloblastosis viral oncogene homolog-like 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001080416.4 → NP_001073885.1  myb-related protein A isoform 1

      See identical proteins and their annotated locations for NP_001073885.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC083928, DR003430, X13294
      Consensus CDS
      CCDS47867.1
      UniProtKB/Swiss-Prot
      E7EW29, P10243, Q495F9
      Related
      ENSP00000429633.2, ENST00000522677.8
      Conserved Domains (4) summary
      smart00717
      Location:87 → 135
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:87 → 133
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:242 → 286
      LMSTEN; LMSTEN motif
      pfam09316
      Location:486 → 647
      Cmyb_C; C-myb, C-terminal

    2. NM_001144755.3 → NP_001138227.1  myb-related protein A isoform 2

      See identical proteins and their annotated locations for NP_001138227.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC083928, BC101188, DR003430
      Consensus CDS
      CCDS55241.1
      UniProtKB/Swiss-Prot
      P10243
      Related
      ENSP00000428011.2, ENST00000524176.2
      Conserved Domains (3) summary
      pfam09316
      Location:486 → 647
      Cmyb_C; C-myb, C-terminal
      pfam13921
      Location:38 → 98
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      cl28544
      Location:84 → 270
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

    3. NM_001294282.2 → NP_001281211.1  myb-related protein A isoform 3

      See identical proteins and their annotated locations for NP_001281211.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC083928, BC101186, DR003430
      UniProtKB/TrEMBL
      Q495G0
      Conserved Domains (3) summary
      pfam09316
      Location:485 → 646
      Cmyb_C; C-myb, C-terminal
      pfam13921
      Location:38 → 98
      Myb_DNA-bind_6; Myb-like DNA-binding domain
      cl28544
      Location:84 → 270
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66562175..66613218 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517535.4 → XP_011515837.1  myb-related protein A isoform X6

      Conserved Domains (4) summary
      smart00717
      Location:87 → 135
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:87 → 133
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:242 → 286
      LMSTEN; LMSTEN motif
      pfam09316
      Location:491 → 652
      Cmyb_C; C-myb, C-terminal

    2. XM_011517533.4 → XP_011515835.1  myb-related protein A isoform X3

      Conserved Domains (4) summary
      smart00717
      Location:87 → 135
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:87 → 133
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:242 → 286
      LMSTEN; LMSTEN motif
      pfam09316
      Location:491 → 652
      Cmyb_C; C-myb, C-terminal

    3. XM_017013455.2 → XP_016868944.1  myb-related protein A isoform X1

    4. XM_017013456.2 → XP_016868945.1  myb-related protein A isoform X2

    5. XM_017013457.2 → XP_016868946.1  myb-related protein A isoform X4

    6. XM_017013458.2 → XP_016868947.1  myb-related protein A isoform X5

    7. XM_017013459.2 → XP_016868948.1  myb-related protein A isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66987925..67038972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360506.1 → XP_054216481.1  myb-related protein A isoform X6

    2. XM_054360503.1 → XP_054216478.1  myb-related protein A isoform X3

    3. XM_054360501.1 → XP_054216476.1  myb-related protein A isoform X1

    4. XM_054360502.1 → XP_054216477.1  myb-related protein A isoform X2

    5. XM_054360504.1 → XP_054216479.1  myb-related protein A isoform X4

    6. XM_054360505.1 → XP_054216480.1  myb-related protein A isoform X5

    7. XM_054360507.1 → XP_054216482.1  myb-related protein A isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10243.2 GenPept UniProtKB/Swiss-Prot:P10243

    Gene LinkOut

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

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