MAD2L1BP
MAD2L1-binding protein
Also known as: CMT2, dJ261G23.1, KIAA0110, MD2BP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15013
- Gene
- MAD2L1BP
- Ensembl
- ENSG00000124688
- Chromosome
- 6
- Canonical length
- 274 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear membrane,Nucleoli
OverviewNCBI Gene
The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
274 residues, UniProt reviewed canonical sequence.
>Q15013|MAD2L1BP
1 MAAPEAEVLS SAAVPDLEWY EKSEETHASQ IELLETSSTQ EPLNASEAFC PRDCMVPVVF
61 PGPVSQEGCC QFTCELLKHI MYQRQQLPLP YEQLKHFYRK PSPQAEEMLK KKPRATTEVS
121 SRKCQQALAE LESVLSHLED FFARTLVPRV LILLGGNALS PKEFYELDLS LLAPYSVDQS
181 LSTAACLRRL FRAIFMADAF SELQAPPLMG TVVMAQGHRN CGEDWFRPKL NYRVPSRGHK
241 LTVTLSCGRP SIRTTAWEDY IWFQAPVTFK GFRELocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAD2L1BP 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)
- 0.38
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 51 nTPM
- tongue: 42 nTPM
- skeletal muscle: 28 nTPM
- thymus: 27 nTPM
- rectum: 26 nTPM
- tonsil: 25 nTPM
Single-cell type
- platelets: 99 nCPM
- megakaryocytes: 56 nCPM
- early spermatids: 56 nCPM
- late spermatids: 51 nCPM
- colonocytes: 44 nCPM
- enterocytes: 44 nCPM
Immune cell
- basophil: 106 nTPM
- T-reg: 79 nTPM
- naive CD4 T-cell: 57 nTPM
- NK-cell: 56 nTPM
- memory CD4 T-cell: 55 nTPM
- memory B-cell: 53 nTPM
Brain region
- choroid plexus: 15 nTPM
- hypothalamus: 14 nTPM
- cerebral cortex: 14 nTPM
- hippocampal formation: 13 nTPM
- pons: 13 nTPM
- cerebellum: 12 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)
- 1.4
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.54
- DepMap mean gene effect
- -0.53
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Mad1/Cdc20-bound-Mad2 binding protein
- MAD2L1-binding domain-containing protein
- Mad1 and Cdc20-bound-Mad2 binding
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAD2L1BP 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 MAD2L1BP as an antibody target. Whether an autoantibody or antibody against MAD2L1BP could matter depends on whether native MAD2L1BP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAD2L1BP 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 MAD2L1BP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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