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

Gene ID: 4603, updated on 17-Mar-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
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Genomic context

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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
  
acts_upstream_of_positive_effect siRNA-mediated retrotransposon silencing by heterochromatin formation 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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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

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