Seroatlas · Human Serome Atlas

MAD2L1

Mitotic spindle assembly checkpoint protein MAD2A

Also known as: HSMAD2, MAD2, MD2L1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q13257
Gene: MAD2L1
Ensembl: ENSG00000164109
Chromosome: 4
Canonical length: 205 aa
Protein class: Cancer-related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

205 residues, UniProt reviewed canonical sequence.

>Q13257|MAD2L1
     1  MALQLSREQG ITLRGSAEIV AEFFSFGINS ILYQRGIYPS ETFTRVQKYG LTLLVTTDLE
    61  LIKYLNNVVE QLKDWLYKCS VQKLVVVISN IESGEVLERW QFDIECDKTA KDDSAPREKS
   121  QKAIQDEIRS VIRQITATVT FLPLLEVSCS FDLLIYTDKD LVVPEKWEES GPQFITNSEE
   181  VRLRSFTTTI HKVNSMVAYK IPVND

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAD2L1 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): 0.3
Highest tissue expression: 5.5 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 5.5 nTPM
thymus: 5.3 nTPM
lymph node: 3.7 nTPM
tonsil: 3.4 nTPM
rectum: 2.5 nTPM
testis: 2.2 nTPM

Single-cell type

oocytes: 157 nCPM
early primary spermatocytes: 152 nCPM
extravillous trophoblasts: 131 nCPM
migrating cytotrophoblasts: 103 nCPM
erythrocyte progenitors: 91 nCPM
differentiating spermatogonia: 87 nCPM

Immune cell

T-reg: 1.3 nTPM
memory CD4 T-cell: 1.2 nTPM
naive CD4 T-cell: 1.1 nTPM
naive CD8 T-cell: 1.1 nTPM
basophil: 0.9 nTPM
memory CD8 T-cell: 0.9 nTPM

Brain region

cerebellum: 2.2 nTPM
cerebral cortex: 2 nTPM
basal ganglia: 1.9 nTPM
white matter: 1.8 nTPM
hippocampal formation: 1.7 nTPM
pons: 1.7 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): 0.94
gnomAD pLI: 0.01
gnomAD missense Z: 1.06
DepMap mean gene effect: -1.71
DepMap dependency class: pan

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 MAD2L1 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 MAD2L1 as an antibody target. Whether an autoantibody or antibody against MAD2L1 could matter depends on whether native MAD2L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAD2L1 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 MAD2L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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