Seroatlas · Human Serome Atlas

AMH

Muellerian-inhibiting factor

Also known as: MIF, MIS, MIS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P03971
Gene
AMH
Ensembl
ENSG00000104899
Chromosome
19
Canonical length
560 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Vesicles,Aggresome
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

560 residues, UniProt reviewed canonical sequence.

>P03971|AMH
     1  MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP QEPLCLVALG
    61  GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF GVCNTGDRQA ALPSLRRLGA
   121  WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE PPPGGAGPPE LALLVLYPGP GPEVTVTRAG
   181  LPGAQSLCPS RDTRYLVLAV DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR
   241  CFTRMTPALL LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA
   301  LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL RPTAATTGDP
   361  APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT APLLARLLAL CPGGPGGLGD
   421  PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ RSAGATAADG PCALRELSVD LRAERSVLIP
   481  ETYQANNCQG VCGWPQSDRN PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS
   541  EERISAHHVP NMVATECGCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMH 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • testis: 10 nTPM
  • cerebellum: 5.3 nTPM
  • pituitary gland: 3.8 nTPM
  • basal ganglia: 3 nTPM
  • cerebral cortex: 2.2 nTPM
  • hypothalamus: 2 nTPM

Single-cell type

  • granulosa cells: 800 nCPM
  • sertoli cells: 64 nCPM
  • late spermatids: 15 nCPM
  • brain inhibitory neurons: 11 nCPM
  • myosatellite cells: 11 nCPM
  • retinal amacrine cells: 9.5 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • basal ganglia: 3.6 nTPM
  • cerebellum: 3.6 nTPM
  • cerebral cortex: 3.3 nTPM
  • amygdala: 2.6 nTPM
  • thalamus: 2.4 nTPM
  • midbrain: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMH.

Disease | AllUniProt

Conditions AMH is implicated in, by any mechanism.

  • Persistent Muellerian duct syndrome 1 (PMDS1) MIM:261550

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 279 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)
1.77
gnomAD pLI
0
gnomAD missense Z
-0.88
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

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

AMH is annotated as secreted, so native AMH circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label AMH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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