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

Summary

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, Nov 2024]
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

Location:: 8q13.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (66562175..66613218, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (66987925..67038972, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (67474410..67525453, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements.
Title: Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements.
Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy.
Title: Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G10655 (e-PCR)
- UniSTS:72558

D8S578 (e-PCR)
- UniSTS:148614

RH104400 (e-PCR)
- UniSTS:98725

SHGC-60159 (e-PCR)
- UniSTS:9405

SHGC-12833 (e-PCR)
- UniSTS:32740

SHGC-60149 (e-PCR)
- UniSTS:67319

SHGC-59950 (e-PCR)
- UniSTS:48887

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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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)

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
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
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

66562175..66613218 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_017013455.2 → XP_016868944.1 myb-related protein A isoform X1
XM_017013456.2 → XP_016868945.1 myb-related protein A isoform X2
XM_017013457.2 → XP_016868946.1 myb-related protein A isoform X4
XM_017013458.2 → XP_016868947.1 myb-related protein A isoform X5
XM_017013459.2 → XP_016868948.1 myb-related protein A isoform X7