Seroatlas · Human Serome Atlas

BUB1

Mitotic checkpoint serine/threonine-protein kinase BUB1

Also known as: BUB1_HUMAN, BUB1A, BUB1L, hBUB1

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

Protein identityUniProt · HPA

UniProt accession
O43683
Gene
BUB1
Ensembl
ENSG00000169679
Chromosome
2
Canonical length
1085 aa
Protein class
Enzymes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

1085 residues, UniProt reviewed canonical sequence.

>O43683|BUB1
     1  MDTPENVLQM LEAHMQSYKG NDPLGEWERY IQWVEENFPE NKEYLITLLE HLMKEFLDKK
    61  KYHNDPRFIS YCLKFAEYNS DLHQFFEFLY NHGIGTLSSP LYIAWAGHLE AQGELQHASA
   121  VLQRGIQNQA EPREFLQQQY RLFQTRLTET HLPAQARTSE PLHNVQVLNQ MITSKSNPGN
   181  NMACISKNQG SELSGVISSA CDKESNMERR VITISKSEYS VHSSLASKVD VEQVVMYCKE
   241  KLIRGESEFS FEELRAQKYN QRRKHEQWVN EDRHYMKRKE ANAFEEQLLK QKMDELHKKL
   301  HQVVETSHED LPASQERSEV NPARMGPSVG SQQELRAPCL PVTYQQTPVN MEKNPREAPP
   361  VVPPLANAIS AALVSPATSQ SIAPPVPLKA QTVTDSMFAV ASKDAGCVNK STHEFKPQSG
   421  AEIKEGCETH KVANTSSFHT TPNTSLGMVQ ATPSKVQPSP TVHTKEALGF IMNMFQAPTL
   481  PDISDDKDEW QSLDQNEDAF EAQFQKNVRS SGAWGVNKII SSLSSAFHVF EDGNKENYGL
   541  PQPKNKPTGA RTFGERSVSR LPSKPKEEVP HAEEFLDDST VWGIRCNKTL APSPKSPGDF
   601  TSAAQLASTP FHKLPVESVH ILEDKENVVA KQCTQATLDS CEENMVVPSR DGKFSPIQEK
   661  SPKQALSSHM YSASLLRLSQ PAAGGVLTCE AELGVEACRL TDTDAAIAED PPDAIAGLQA
   721  EWMQMSSLGT VDAPNFIVGN PWDDKLIFKL LSGLSKPVSS YPNTFEWQCK LPAIKPKTEF
   781  QLGSKLVYVH HLLGEGAFAQ VYEATQGDLN DAKNKQKFVL KVQKPANPWE FYIGTQLMER
   841  LKPSMQHMFM KFYSAHLFQN GSVLVGELYS YGTLLNAINL YKNTPEKVMP QGLVISFAMR
   901  MLYMIEQVHD CEIIHGDIKP DNFILGNGFL EQDDEDDLSA GLALIDLGQS IDMKLFPKGT
   961  IFTAKCETSG FQCVEMLSNK PWNYQIDYFG VAATVYCMLF GTYMKVKNEG GECKPEGLFR
  1021  RLPHLDMWNE FFHVMLNIPD CHHLPSLDLL RQKLKKVFQQ HYTNKIRALR NRLIVLLLEC
  1081  KRSRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BUB1 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)
0.49
Highest tissue expression
28 nTPM

Expression across tissuesHPA

Tissue

  • testis: 28 nTPM
  • thymus: 26 nTPM
  • tonsil: 16 nTPM
  • lymph node: 15 nTPM
  • bone marrow: 11 nTPM
  • appendix: 7.9 nTPM

Single-cell type

  • early primary spermatocytes: 120 nCPM
  • monocyte progenitors: 109 nCPM
  • erythrocyte progenitors: 108 nCPM
  • late primary spermatocytes: 75 nCPM
  • megakaryocyte progenitors: 68 nCPM
  • oocytes: 51 nCPM

Immune cell

  • T-reg: 1.5 nTPM
  • basophil: 1.1 nTPM
  • memory CD4 T-cell: 0.9 nTPM
  • plasmacytoid DC: 0.9 nTPM
  • naive B-cell: 0.6 nTPM
  • naive CD4 T-cell: 0.6 nTPM

Brain region

  • pons: 1.7 nTPM
  • thalamus: 1.4 nTPM
  • basal ganglia: 1.1 nTPM
  • white matter: 1 nTPM
  • medulla oblongata: 0.8 nTPM
  • cerebral cortex: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BUB1.

Disease | AllUniProt

Conditions BUB1 is implicated in, by any mechanism.

  • Microcephaly 30, primary, autosomal recessive (MCPH30) MIM:620183

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 1,533 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Microcephaly 30, primary, autosomal recessive
  • Colorectal cancer with chromosomal instability, somatic
  • Carcinoma of colon

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)
0.6
gnomAD pLI
0
gnomAD missense Z
0.85
DepMap mean gene effect
-0.83
DepMap dependency class
common

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BUB1 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 BUB1 as an antibody target. Whether an autoantibody or antibody against BUB1 could matter depends on whether native BUB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BUB1 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 BUB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BUB1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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