Seroatlas · Human Serome Atlas

AMFR

E3 ubiquitin-protein ligase AMFR

Also known as: AMFR_HUMAN, gp78, RNF45

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

Protein identityUniProt · HPA

UniProt accession
Q9UKV5
Gene
AMFR
Ensembl
ENSG00000159461
Chromosome
16
Canonical length
643 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Endoplasmic reticulum,Golgi apparatus

OverviewNCBI Gene

This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

643 residues, UniProt reviewed canonical sequence.

>Q9UKV5|AMFR
     1  MPLLFLERFP WPSLRTYTGL SGLALLGTII SAYRALSQPE AGPGEPDQLT ASLQPEPPAP
    61  ARPSAGGPRA RDVAQYLLSD SLFVWVLVNT ACCVLMLVAK LIQCIVFGPL RVSERQHLKD
   121  KFWNFIFYKF IFIFGVLNVQ TVEEVVMWCL WFAGLVFLHL MVQLCKDRFE YLSFSPTTPM
   181  SSHGRVLSLL VAMLLSCCGL AAVCSITGYT HGMHTLAFMA AESLLVTVRT AHVILRYVIH
   241  LWDLNHEGTW EGKGTYVYYT DFVMELTLLS LDLMHHIHML LFGNIWLSMA SLVIFMQLRY
   301  LFHEVQRRIR RHKNYLRVVG NMEARFAVAT PEELAVNNDD CAICWDSMQA ARKLPCGHLF
   361  HNSCLRSWLE QDTSCPTCRM SLNIADNNRV REEHQGENLD ENLVPVAAAE GRPRLNQHNH
   421  FFHFDGSRIA SWLPSFSVEV MHTTNILGIT QASNSQLNAM AHQIQEMFPQ VPYHLVLQDL
   481  QLTRSVEITT DNILEGRIQV PFPTQRSDSI RPALNSPVER PSSDQEEGET SAQTERVPLD
   541  LSPRLEETLD FGEVEVEPSE VEDFEARGSR FSKSADERQR MLVQRKDELL QQARKRFLNK
   601  SSEDDAASES FLPSEGASSD PVTLRRRMLA AAAERRLQKQ QTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMFR 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
Other membrane
Secreted
No
Transmembrane segments
7
Mean surface accessibility (rSASA)
0.43
Highest tissue expression
151 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 151 nTPM
  • testis: 78 nTPM
  • choroid plexus: 72 nTPM
  • liver: 70 nTPM
  • parathyroid gland: 66 nTPM
  • kidney: 60 nTPM

Single-cell type

  • platelets: 361 nCPM
  • renal collecting duct intercalated cells: 237 nCPM
  • early spermatids: 236 nCPM
  • hepatocytes: 203 nCPM
  • late spermatids: 178 nCPM
  • esophageal apical cells: 166 nCPM

Immune cell

  • basophil: 37 nTPM
  • memory B-cell: 22 nTPM
  • naive B-cell: 18 nTPM
  • non-classical monocyte: 18 nTPM
  • eosinophil: 14 nTPM
  • NK-cell: 14 nTPM

Brain region

  • choroid plexus: 154 nTPM
  • white matter: 146 nTPM
  • spinal cord: 129 nTPM
  • medulla oblongata: 121 nTPM
  • midbrain: 115 nTPM
  • thalamus: 112 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMFR.

Disease | AllUniProt

Conditions AMFR is implicated in, by any mechanism.

  • Spastic paraplegia 89, autosomal recessive (SPG89) MIM:620379

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 108 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)
0.63
gnomAD pLI
0
gnomAD missense Z
1.87
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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

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

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