Seroatlas · Human Serome Atlas

AMPH

Amphiphysin

Also known as: AMPH_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P49418
Gene
AMPH
Ensembl
ENSG00000078053
Chromosome
7
Canonical length
695 aa
Protein class
Cancer-related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

695 residues, UniProt reviewed canonical sequence.

>P49418|AMPH
     1  MADIKTGIFA KNVQKRLNRA QEKVLQKLGK ADETKDEQFE EYVQNFKRQE AEGTRLQREL
    61  RGYLAAIKGM QEASMKLTES LHEVYEPDWY GREDVKMVGE KCDVLWEDFH QKLVDGSLLT
   121  LDTYLGQFPD IKNRIAKRSR KLVDYDSARH HLEALQSSKR KDESRISKAE EEFQKAQKVF
   181  EEFNVDLQEE LPSLWSRRVG FYVNTFKNVS SLEAKFHKEI AVLCHKLYEV MTKLGDQHAD
   241  KAFTIQGAPS DSGPLRIAKT PSPPEEPSPL PSPTASPNHT LAPASPAPAR PRSPSQTRKG
   301  PPVPPLPKVT PTKELQQENI ISFFEDNFVP EISVTTPSQN EVPEVKKEET LLDLDFDPFK
   361  PEVTPAGSAG VTHSPMSQTL PWDLWTTSTD LVQPASGGSF NGFTQPQDTS LFTMQTDQSM
   421  ICNLAESEQA PPTEPKAEEP LAAVTPAVGL DLGMDTRAEE PVEEAVIIPG ADADAAVGTL
   481  VSAAEGAPGE EAEAEKATVP AGEGVSLEEA KIGTETTEGA ESAQPEAEEL EATVPQEKVI
   541  PSVVIEPASN HEEEGENEIT IGAEPKETTE DAAPPGPTSE TPELATEQKP IQDPQPTPSA
   601  PAMGAADQLA SAREASQELP PGFLYKVETL HDFEAANSDE LTLQRGDVVL VVPSDSEADQ
   661  DAGWLVGVKE SDWLQYRDLA TYKGLFPENF TRRLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMPH 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)
0.55
Highest tissue expression
61 nTPM

Expression across tissuesHPA

Tissue

  • retina: 61 nTPM
  • cerebellum: 51 nTPM
  • cerebral cortex: 51 nTPM
  • hypothalamus: 26 nTPM
  • hippocampal formation: 21 nTPM
  • pituitary gland: 20 nTPM

Single-cell type

  • cone photoreceptor cells: 439 nCPM
  • rod photoreceptor cells: 427 nCPM
  • thyrotrophs: 301 nCPM
  • retinal bipolar cells: 294 nCPM
  • retinal amacrine cells: 289 nCPM
  • somatotrophs: 268 nCPM

Immune cell

  • gdT-cell: 0.6 nTPM
  • MAIT T-cell: 0.4 nTPM
  • naive CD8 T-cell: 0.4 nTPM
  • plasmacytoid DC: 0.4 nTPM
  • memory CD8 T-cell: 0.3 nTPM
  • classical monocyte: 0.2 nTPM

Brain region

  • cerebral cortex: 164 nTPM
  • hypothalamus: 120 nTPM
  • white matter: 97 nTPM
  • basal ganglia: 96 nTPM
  • pons: 80 nTPM
  • hippocampal formation: 77 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMPH.

Disease | AutoantibodyPubMed

Conditions in which antibodies against AMPH are reported. Each links to that disease's full target list.

Showing 9 of 14 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for AMPH from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

63 publications

Show 20 more of 63 total

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.57
gnomAD pLI
0
gnomAD missense Z
1.49
DepMap mean gene effect
0.01
DepMap dependency class
none

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

AMPH 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.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein.

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