Seroatlas · Human Serome Atlas

MBTD1

MBT domain-containing protein 1

Also known as: FLJ20055, MBTD1_HUMAN, SA49P01

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q05BQ5
Gene: MBTD1
Ensembl: ENSG00000011258
Chromosome: 17
Canonical length: 628 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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, Apr 2025]

Canonical amino-acid sequenceUniProt

628 residues, UniProt reviewed canonical sequence.

>Q05BQ5|MBTD1
     1  MFDGYDSCSE DTSSSSSSEE SEEEVAPLPS NLPIIKNNGQ VYTYPDGKSG MATCEMCGMV
    61  GVRDAFYSKT KRFCSVSCSR SYSSNSKKAS ILARLQGKPP TKKAKVLQKQ PLVAKLAAYA
   121  QYQATLQNQA KTKAAVSMEG FSWGNYINSN SFIAAPVTCF KHAPMGTCWG DISENVRVEV
   181  PNTDCSLPTK VFWIAGIVKL AGYNALLRYE GFENDSGLDF WCNICGSDIH PVGWCAASGK
   241  PLVPPRTIQH KYTNWKAFLV KRLTGAKTLP PDFSQKVSES MQYPFKPCMR VEVVDKRHLC
   301  RTRVAVVESV IGGRLRLVYE ESEDRTDDFW CHMHSPLIHH IGWSRSIGHR FKRSDITKKQ
   361  DGHFDTPPHL FAKVKEVDQS GEWFKEGMKL EAIDPLNLST ICVATIRKVL ADGFLMIGID
   421  GSEAADGSDW FCYHATSPSI FPVGFCEINM IELTPPRGYT KLPFKWFDYL RETGSIAAPV
   481  KLFNKDVPNH GFRVGMKLEA VDLMEPRLIC VATVTRIIHR LLRIHFDGWE EEYDQWVDCE
   541  SPDLYPVGWC QLTGYQLQPP ASQSSRENQS ASSKQKKKAK SQQYKGHKKM TTLQLKEELL
   601  DGEDYNFLQG ASDQESNGSA NFYIKQEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBTD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

testis: 24 nTPM
skin: 14 nTPM
thymus: 13 nTPM
cerebellum: 11 nTPM
ovary: 11 nTPM
breast: 11 nTPM

Single-cell type

platelets: 196 nCPM
thymocytes: 179 nCPM
myonuclei: 158 nCPM
choroid plexus epithelial cells: 150 nCPM
distal convoluted tubule cells: 149 nCPM
neutrophil progenitors: 146 nCPM

Immune cell

basophil: 2.6 nTPM
eosinophil: 0.7 nTPM
memory B-cell: 0.4 nTPM
naive CD8 T-cell: 0.3 nTPM
neutrophil: 0.3 nTPM
plasmacytoid DC: 0.3 nTPM

Brain region

cerebellum: 15 nTPM
white matter: 12 nTPM
cerebral cortex: 10 nTPM
basal ganglia: 10 nTPM
pons: 9.1 nTPM
medulla oblongata: 8.9 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.08
gnomAD pLI: 1
gnomAD missense Z: 3.45
DepMap mean gene effect: -0.46
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

chromatin binding
histone H4K20me1 reader activity
histone H4K20me2 reader activity
zinc ion binding
NuA4 histone acetyltransferase complex binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MBTD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MBTD1 as an antibody target. Whether an autoantibody or antibody against MBTD1 could matter depends on whether native MBTD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBTD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MBTD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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