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

Gene ID: 54799, updated on 6-Nov-2022

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 methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

See MBTD1 in Genome Data Viewer
Location:
17q21.33
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51177425..51260958, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52044724..52127277, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49254786..49337410, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NME1-NME2 readthrough Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 Neighboring gene UTP18 small subunit processome component Neighboring gene long intergenic non-protein coding RNA 2071 Neighboring gene long intergenic non-protein coding RNA 2072

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20055, FLJ42067, MGC126785

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
PubMed 

General protein information

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)

  1. NM_017643.3NP_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, Q9NXU1
    Related
    ENSP00000468304.1, ENST00000586178.6
    Conserved Domains (1) summary
    smart00561
    Location:468560
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    51177425..51260958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524926.4XP_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:470562
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  2. XM_047436322.1XP_047292278.1  MBT domain-containing protein 1 isoform X5

  3. XM_011524928.3XP_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:470562
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  4. XM_011524930.2XP_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:468560
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  5. XM_047436320.1XP_047292276.1  MBT domain-containing protein 1 isoform X4

  6. XM_005257468.6XP_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:491583
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  7. XM_011524924.3XP_011523226.1  MBT domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    smart00561
    Location:491583
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  8. XM_011524923.3XP_011523225.1  MBT domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    smart00561
    Location:492584
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  9. XM_005257467.6XP_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:493585
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  10. XM_011524922.3XP_011523224.1  MBT domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    smart00561
    Location:493585
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  11. XM_011524925.2XP_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:470562
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  12. XM_047436321.1XP_047292277.1  MBT domain-containing protein 1 isoform X5

  13. XM_047436323.1XP_047292279.1  MBT domain-containing protein 1 isoform X5

  14. XM_011524931.3XP_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:331423
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  15. XM_047436324.1XP_047292280.1  MBT domain-containing protein 1 isoform X10

  16. XM_047436326.1XP_047292282.1  MBT domain-containing protein 1 isoform X12

  17. XM_047436325.1XP_047292281.1  MBT domain-containing protein 1 isoform X11

  18. XM_011524935.4XP_011523237.1  MBT domain-containing protein 1 isoform X14

    Conserved Domains (2) summary
    smart00561
    Location:285375
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:382432
    MBT; mbt repeat
  19. XM_011524934.3XP_011523236.1  MBT domain-containing protein 1 isoform X13

    Conserved Domains (2) summary
    smart00561
    Location:287377
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:384434
    MBT; mbt repeat
  20. XM_047436328.1XP_047292284.1  MBT domain-containing protein 1 isoform X15

  21. XM_047436327.1XP_047292283.1  MBT domain-containing protein 1 isoform X15

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    52044724..52127277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)