Gene Gene information from NCBI Gene database.
Entrez ID 267
Gene name Autocrine motility factor receptor
Gene symbol AMFR
Synonyms (NCBI Gene)
GP78RNF45SPG89
Chromosome 16
Chromosome location 16q13
Summary 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 catal
miRNA miRNA information provided by mirtarbase database.
260
miRTarBase ID miRNA Experiments Reference
MIRT054343 hsa-miR-376a-5p ImmunoblotqRT-PCRWestern blot 23093778
MIRT437721 hsa-miR-29a-3p MicroarrayqRT-PCR 22815788
MIRT437722 hsa-miR-29b-3p MicroarrayqRT-PCR 22815788
MIRT437723 hsa-miR-29c-3p MicroarrayqRT-PCR 22815788
MIRT705737 hsa-miR-140-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000209 Process Protein polyubiquitination IDA 17310145, 19103148
GO:0000209 Process Protein polyubiquitination IMP 24810856
GO:0004842 Function Ubiquitin-protein transferase activity IDA 11724934, 17681147, 19103148
GO:0004842 Function Ubiquitin-protein transferase activity IMP 16168377, 17043353
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603243 463 ENSG00000159461
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKV5
Protein name E3 ubiquitin-protein ligase AMFR (EC 2.3.2.36) (Autocrine motility factor receptor) (AMF receptor) (RING finger protein 45) (gp78)
Protein function E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation (PubMed:10456327, PubMed:11724934, PubMed:1
PDB 2EJS , 2LVN , 2LVO , 2LVP , 2LVQ , 2LXH , 2LXP , 3FSH , 3H8K , 3TIW , 4G3O , 4LAD , 8T0S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 339 379 Ring finger domain Domain
PF02845 CUE 457 497 CUE domain Domain
PF18442 G2BR 574 600 E3 gp78 Ube2g2-binding region (G2BR) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:37119330}.
Sequence
MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPGEPDQLTASLQPEPPAP
ARPSAGGPRARDVAQYLLSDSLFVWVLVNTACCVLMLVAKLIQCIVFGPLRVSERQHLKD
KFWNFIFYKFIFIFGVLNVQTVEEVVMWCLWFAGLVFLHLMVQLCKDRFEYLSFSPTTPM
SSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAFMAAESLLVTVRTAHVILRYVIH
LWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHHIHMLLFGNIWLSMASLVIFMQLRY
LFHEVQRRIRRHKNYLRVVGNMEARFAVATPEELAVNNDDCAICWDSMQAARKLPCGHLF
HNSCLRSWLEQDTSCPTCR
MSLNIADNNRVREEHQGENLDENLVPVAAAEGRPRLNQHNH
FFHFDGSRIASWLPSFSVEVMHTTNILGITQASNSQLNAMAHQIQEMFPQVPYHLVLQDL
QLTRSVEITTDNILEGR
IQVPFPTQRSDSIRPALNSPVERPSSDQEEGETSAQTERVPLD
LSPRLEETLDFGEVEVEPSEVEDFEARGSRFSKSADERQRMLVQRKDELLQQARKRFLNK
SSEDDAASESFLPSEGASSDPVTLRRRMLAAAAERRLQKQQTS
Sequence length 643
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
Protein processing in endoplasmic reticulum
  N-glycan trimming in the ER and Calnexin/Calreticulin cycle
ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spastic paraplegia 89, autosomal recessive Pathogenic rs2543563198, rs1961896737, rs2543536595, rs2543520411 RCV003229578
RCV003229579
RCV003229580
RCV003229581
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breast ductal adenocarcinoma Uncertain significance rs869025244 RCV000207121
Marfanoid habitus and intellectual disability Uncertain significance rs758196891 RCV000850434
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
alpha 1 Antitrypsin Deficiency Associate 28301499
Breast Neoplasms Associate 17690101, 35639484, 36576071
Carcinoma Hepatocellular Associate 37753370
Coronary Artery Disease Associate 25200441
Coronary Disease Associate 28212872
Death Associate 9176385
Encephalitis Japanese Associate 19762970
Endometrial Neoplasms Associate 31864301
Enterovirus Infections Associate 24285545
Esophageal Neoplasms Stimulate 37703903