MBTD1 mbt domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBTD1provided by HGNC
Official Full Name: mbt domain containing 1provided by HGNC
Primary source: HGNC:HGNC:19866
See related: Ensembl:ENSG00000011258 MIM:618705; AllianceGenome:HGNC:19866
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: SA49P01
Summary: Enables NuA4 histone acetyltransferase complex binding activity and methylated histone binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex and nucleosome. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (51177425..51260958, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (52044724..52127757, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (49254786..49337410, complement)

Chromosome 17 - NC_000017.11 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?

Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells.
Title: Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells.
Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes.
Title: Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes.
Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
Title: Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism.
Title: ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism.
A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.
Title: A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.
In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids
Title: Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion.
The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade Endometrial stromal sarcomas and offers the opportunity to shed light on the functions of two poorly characterized genes.
Title: Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.
structural analysis of a four-MBT repeat protein MBTD1
Title: Structural studies of a four-MBT repeat protein MBTD1.

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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

STS-R99923 (e-PCR)
- UniSTS:2101

NoName (e-PCR)
- UniSTS:485720

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NuA4 histone acetyltransferase complex binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables methylated histone binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	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 double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MBT domain-containing protein 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_017643.3 → NP_060113.2 MBT domain-containing protein 1

See identical proteins and their annotated locations for NP_060113.2

Status: VALIDATED

Source sequence(s)

AC005839, AL133577, BC034364, BQ022382, BU195532, CN310792

Consensus CDS

CCDS11581.2

UniProtKB/Swiss-Prot

Q05BQ5, Q6ZVU7, Q9NXU1

Related

ENSP00000468304.1, ENST00000586178.6

Conserved Domains (1) summary

smart00561
Location:468 → 560

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

51177425..51260958 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524926.4 → XP_011523228.1 MBT domain-containing protein 1 isoform X5

See identical proteins and their annotated locations for XP_011523228.1

Conserved Domains (1) summary

smart00561
Location:470 → 562

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_047436322.1 → XP_047292278.1 MBT domain-containing protein 1 isoform X5
XM_011524928.3 → XP_011523230.1 MBT domain-containing protein 1 isoform X5

See identical proteins and their annotated locations for XP_011523230.1

Conserved Domains (1) summary

smart00561
Location:470 → 562

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_011524930.2 → XP_011523232.1 MBT domain-containing protein 1 isoform X6

See identical proteins and their annotated locations for XP_011523232.1

Conserved Domains (1) summary

smart00561
Location:468 → 560

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_047436320.1 → XP_047292276.1 MBT domain-containing protein 1 isoform X4
XM_005257468.6 → XP_005257525.1 MBT domain-containing protein 1 isoform X8

See identical proteins and their annotated locations for XP_005257525.1

Conserved Domains (1) summary

smart00561
Location:491 → 583

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_011524924.3 → XP_011523226.1 MBT domain-containing protein 1 isoform X3

Conserved Domains (1) summary

smart00561
Location:491 → 583

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_011524923.3 → XP_011523225.1 MBT domain-containing protein 1 isoform X2

Conserved Domains (1) summary

smart00561
Location:492 → 584

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_005257467.6 → XP_005257524.1 MBT domain-containing protein 1 isoform X7

See identical proteins and their annotated locations for XP_005257524.1

Conserved Domains (1) summary

smart00561
Location:493 → 585

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_011524922.3 → XP_011523224.1 MBT domain-containing protein 1 isoform X1

Conserved Domains (1) summary

smart00561
Location:493 → 585

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_011524925.2 → XP_011523227.1 MBT domain-containing protein 1 isoform X5

See identical proteins and their annotated locations for XP_011523227.1

Conserved Domains (1) summary

smart00561
Location:470 → 562

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_047436321.1 → XP_047292277.1 MBT domain-containing protein 1 isoform X5
XM_047436323.1 → XP_047292279.1 MBT domain-containing protein 1 isoform X5
XM_011524931.3 → XP_011523233.1 MBT domain-containing protein 1 isoform X9

See identical proteins and their annotated locations for XP_011523233.1

Conserved Domains (1) summary

smart00561
Location:331 → 423

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
XM_047436324.1 → XP_047292280.1 MBT domain-containing protein 1 isoform X10
XM_047436326.1 → XP_047292282.1 MBT domain-containing protein 1 isoform X12
XM_047436325.1 → XP_047292281.1 MBT domain-containing protein 1 isoform X11
XM_011524935.4 → XP_011523237.1 MBT domain-containing protein 1 isoform X14

Conserved Domains (2) summary

smart00561
Location:285 → 375

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

cl17705
Location:382 → 432

MBT; mbt repeat
XM_011524934.3 → XP_011523236.1 MBT domain-containing protein 1 isoform X13

Conserved Domains (2) summary

smart00561
Location:287 → 377

MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

cl17705
Location:384 → 434

MBT; mbt repeat
XM_047436328.1 → XP_047292284.1 MBT domain-containing protein 1 isoform X15
XM_047436327.1 → XP_047292283.1 MBT domain-containing protein 1 isoform X15