Seroatlas · Human Serome Atlas

MAD1L1

Mitotic spindle assembly checkpoint protein MAD1

Also known as: HsMAD1, MAD1, MD1L1_HUMAN, PIG9, TP53I9, TXBP181

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

Protein identityUniProt · HPA

UniProt accession
Q9Y6D9
Gene
MAD1L1
Ensembl
ENSG00000002822
Chromosome
7
Canonical length
718 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

718 residues, UniProt reviewed canonical sequence.

>Q9Y6D9|MAD1L1
     1  MEDLGENTMV LSTLRSLNNF ISQRVEGGSG LDISTSAPGS LQMQYQQSMQ LEERAEQIRS
    61  KSHLIQVERE KMQMELSHKR ARVELERAAS TSARNYEREV DRNQELLTRI RQLQEREAGA
   121  EEKMQEQLER NRQCQQNLDA ASKRLREKED SLAQAGETIN ALKGRISELQ WSVMDQEMRV
   181  KRLESEKQEL QEQLDLQHKK CQEANQKIQE LQASQEARAD HEQQIKDLEQ KLSLQEQDAA
   241  IVKNMKSELV RLPRLERELK QLREESAHLR EMRETNGLLQ EELEGLQRKL GRQEKMQETL
   301  VGLELENERL LAKLQSWERL DQTMGLSIRT PEDLSRFVVE LQQRELALKD KNSAVTSSAR
   361  GLEKARQQLQ EELRQVSGQL LEERKKRETH EALARRLQKR VLLLTKERDG MRAILGSYDS
   421  ELTPAEYSPQ LTRRMREAED MVQKVHSHSA EMEAQLSQAL EELGGQKQRA DMLEMELKML
   481  KSQSSSAEQS FLFSREEADT LRLKVEELEG ERSRLEEEKR MLEAQLERRA LQGDYDQSRT
   541  KVLHMSLNPT SVARQRLRED HSQLQAECER LRGLLRAMER GGTVPADLEA AAASLPSSKE
   601  VAELKKQVES AELKNQRLKE VFQTKIQEFR KACYTLTGYQ IDITTENQYR LTSLYAEHPG
   661  DCLIFKATSP SGSKMQLLET EFSHTVGELI EVHLRRQDSI PAFLSSLTLE LFSRQTVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAD1L1 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)
0.47
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 19 nTPM
  • spleen: 18 nTPM
  • lymph node: 17 nTPM
  • skin: 15 nTPM
  • thymus: 14 nTPM
  • bone marrow: 14 nTPM

Single-cell type

  • late spermatids: 134 nCPM
  • microglia: 84 nCPM
  • podocytes: 84 nCPM
  • loop of henle epithelial cells: 83 nCPM
  • renal collecting duct principal cells: 73 nCPM
  • renal collecting duct intercalated cells: 69 nCPM

Immune cell

  • T-reg: 132 nTPM
  • naive CD4 T-cell: 92 nTPM
  • memory CD8 T-cell: 72 nTPM
  • gdT-cell: 71 nTPM
  • memory CD4 T-cell: 69 nTPM
  • MAIT T-cell: 67 nTPM

Brain region

  • white matter: 26 nTPM
  • basal ganglia: 24 nTPM
  • cerebral cortex: 24 nTPM
  • medulla oblongata: 23 nTPM
  • pons: 23 nTPM
  • thalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAD1L1.

Disease | AllUniProt

Conditions MAD1L1 is implicated in, by any mechanism.

  • Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition (MVA7) MIM:620189

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.97
gnomAD pLI
0
gnomAD missense Z
0.03
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

  • Spindle assembly checkpoint component Mad1
  • Mitotic checkpoint protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAD1L1 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 MAD1L1 as an antibody target. Whether an autoantibody or antibody against MAD1L1 could matter depends on whether native MAD1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAD1L1 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 MAD1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MAD1L1. 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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