Seroatlas · Human Serome Atlas

AMBN

Ameloblastin

Also known as: AMBN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NP70
Gene
AMBN
Ensembl
ENSG00000178522
Chromosome
4
Canonical length
447 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Nucleoplasm,Vesicles
Secretome location
Secreted in other tissues

OverviewNCBI Gene

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>Q9NP70|AMBN
     1  MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL GSLQRLNTLS
    61  QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQYE YSLPVHPPPL PSQPSLKPQQ
   121  PGLKPFLQSA AATTNQATAL KEALQPPIHL GHLPLQEGEL PLVQQQVAPS DKPPKPELPG
   181  VDFADPQGPS LPGMDFPDPQ GPSLPGLDFA DPQGSTIFQI ARLISHGPMP QNKQSPLYPG
   241  MLYVPFGANQ LNAPARLGIM SSEEVAGGRE DPMAYGAMFP GFGGMRPGFE GMPHNPAMGG
   301  DFTLEFDSPV AATKGPENEE GGAQGSPMPE ANPDNLENPA FLTELEPAPH AGLLALPKDD
   361  IPGLPRSPSG KMKGLPSVTP AAADPLMTPE LADVYRTYDA DMTTSVDFQE EATMDTTMAP
   421  NSLQTSMPGN KAQEPEMMHD AWHFQEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMBN 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)
0.73
Highest tissue expression
2.9 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 2.9 nTPM
  • choroid plexus: 0.8 nTPM
  • cerebral cortex: 0.2 nTPM
  • hypothalamus: 0.2 nTPM
  • retina: 0.1 nTPM
  • skin: 0.1 nTPM

Single-cell type

  • pdcs: 1.8 nCPM
  • plasma cells: 0.9 nCPM
  • pancreatic islet cells: 0.8 nCPM
  • brain inhibitory neurons: 0.7 nCPM
  • retinal amacrine cells: 0.7 nCPM
  • hematopoietic stem cells: 0.5 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: 2 nTPM
  • hypothalamus: 0.7 nTPM
  • medulla oblongata: 0.6 nTPM
  • pons: 0.5 nTPM
  • midbrain: 0.2 nTPM
  • cerebral cortex: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMBN.

Disease | AllUniProt

Conditions AMBN is implicated in, by any mechanism.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Amelogenesis imperfecta type 1F

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)
1.11
gnomAD pLI
0
gnomAD missense Z
-0.35
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% 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

  • Ameloblastin precursor
  • Ameloblastin precursor (Amelin)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

AMBN is annotated as secreted, so native AMBN 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 AMBN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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