Seroatlas · Human Serome Atlas

MBD1

Methyl-CpG-binding domain protein 1

Also known as: CXXC3, MBD1_HUMAN, PCM1

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

Protein identityUniProt · HPA

UniProt accession: Q9UIS9
Gene: MBD1
Ensembl: ENSG00000141644
Chromosome: 18
Canonical length: 605 aa
Protein class: Cancer-related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

605 residues, UniProt reviewed canonical sequence.

>Q9UIS9|MBD1
     1  MAEDWLDCPA LGPGWKRREV FRKSGATCGR SDTYYQSPTG DRIRSKVELT RYLGPACDLT
    61  LFDFKQGILC YPAPKAHPVA VASKKRKKPS RPAKTRKRQV GPQSGEVRKE APRDETKADT
   121  DTAPASFPAP GCCENCGISF SGDGTQRQRL KTLCKDCRAQ RIAFNREQRM FKRVGCGECA
   181  ACQVTEDCGA CSTCLLQLPH DVASGLFCKC ERRRCLRIVE RSRGCGVCRG CQTQEDCGHC
   241  PICLRPPRPG LRRQWKCVQR RCLRGKHARR KGGCDSKMAA RRRPGAQPLP PPPPSQSPEP
   301  TEPHPRALAP SPPAEFIYYC VDEDELQPYT NRRQNRKCGA CAACLRRMDC GRCDFCCDKP
   361  KFGGSNQKRQ KCRWRQCLQF AMKRLLPSVW SESEDGAGSP PPYRRRKRPS SARRHHLGPT
   421  LKPTLATRTA QPDHTQAPTK QEAGGGFVLP PPGTDLVFLR EGASSPVQVP GPVAASTEAL
   481  LQEAQCSGLS WVVALPQVKQ EKADTQDEWT PGTAVLTSPV LVPGCPSKAV DPGLPSVKQE
   541  PPDPEEDKEE NKDDSASKLA PEEEAGGAGT PVITEIFSLG GTRFRDTAVW LPRSKDLKKP
   601  GARKQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBD1 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): 0.59
Highest tissue expression: 84 nTPM

Expression across tissuesHPA

Tissue

testis: 84 nTPM
skeletal muscle: 50 nTPM
bone marrow: 42 nTPM
skin: 42 nTPM
pituitary gland: 41 nTPM
spleen: 39 nTPM

Single-cell type

late primary spermatocytes: 276 nCPM
late spermatids: 151 nCPM
early primary spermatocytes: 84 nCPM
esophageal apical cells: 81 nCPM
early spermatids: 72 nCPM
syncytiotrophoblasts: 63 nCPM

Immune cell

eosinophil: 22 nTPM
basophil: 16 nTPM
gdT-cell: 15 nTPM
MAIT T-cell: 14 nTPM
neutrophil: 14 nTPM
NK-cell: 14 nTPM

Brain region

cerebral cortex: 55 nTPM
hippocampal formation: 55 nTPM
white matter: 51 nTPM
cerebellum: 51 nTPM
basal ganglia: 50 nTPM
amygdala: 49 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): 0.27
gnomAD pLI: 1
gnomAD missense Z: 1.99
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MBD1 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 MBD1 as an antibody target. Whether an autoantibody or antibody against MBD1 could matter depends on whether native MBD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBD1 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 MBD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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