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

Gene ID: 54799, updated on 4-Jun-2020

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
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
Expression
Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more
Orthologs

Genomic context

See MBTD1 in Genome Data Viewer
Location:
17q21.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (51177419..51260511, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49254786..49337788, 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

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

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
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylated histone binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
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)

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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    51177419..51260511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524928.2XP_011523230.1  MBT domain-containing protein 1 isoform X4

    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
  2. XM_017024782.1XP_016880271.1  MBT domain-containing protein 1 isoform X9

    Conserved Domains (2) summary
    smart00561
    Location:304396
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:1081
    MBT; mbt repeat
  3. XM_011524926.3XP_011523228.1  MBT domain-containing protein 1 isoform X4

    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
  4. XM_011524930.1XP_011523232.1  MBT domain-containing protein 1 isoform X5

    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_011524925.1XP_011523227.1  MBT domain-containing protein 1 isoform X4

    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
  6. XM_011524929.2XP_011523231.1  MBT domain-containing protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011523231.1

    Conserved Domains (1) summary
    smart00561
    Location:468560
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
  7. XM_011524923.2XP_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
  8. XM_011524922.2XP_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
  9. XM_011524933.2XP_011523235.1  MBT domain-containing protein 1 isoform X9

    Conserved Domains (2) summary
    smart00561
    Location:304396
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:1081
    MBT; mbt repeat
  10. XM_011524924.2XP_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
  11. XM_005257467.5XP_005257524.1  MBT domain-containing protein 1 isoform X6

    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
  12. XM_011524931.2XP_011523233.1  MBT domain-containing protein 1 isoform X8

    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
  13. XM_005257468.5XP_005257525.1  MBT domain-containing protein 1 isoform X7

    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
  14. XM_011524936.1XP_011523238.1  MBT domain-containing protein 1 isoform X12

    See identical proteins and their annotated locations for XP_011523238.1

    UniProtKB/Swiss-Prot
    Q05BQ5
    Conserved Domains (2) summary
    smart00561
    Location:262352
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:359409
    MBT; mbt repeat
  15. XM_011524935.3XP_011523237.1  MBT domain-containing protein 1 isoform X11

    Conserved Domains (2) summary
    smart00561
    Location:285375
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:382432
    MBT; mbt repeat
  16. XM_011524934.2XP_011523236.1  MBT domain-containing protein 1 isoform X10

    Conserved Domains (2) summary
    smart00561
    Location:287377
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl17705
    Location:384434
    MBT; mbt repeat

RNA

  1. XR_934492.2 RNA Sequence

  2. XR_934491.2 RNA Sequence

  3. XR_001752545.1 RNA Sequence

  4. XR_001752546.1 RNA Sequence

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