Human Gene AMFR (ENST00000290649.10) from GENCODE V44
  Description: Homo sapiens autocrine motility factor receptor (AMFR), transcript variant 4, mRNA. (from RefSeq NM_001323512)
RefSeq Summary (NM_001144): 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].
Gencode Transcript: ENST00000290649.10
Gencode Gene: ENSG00000159461.15
Transcript (Including UTRs)
   Position: hg38 chr16:56,361,452-56,425,545 Size: 64,094 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr16:56,362,909-56,425,327 Size: 62,419 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:56,361,452-56,425,545)mRNA (may differ from genome)Protein (643 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AMFR_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase AMFR; EC=6.3.2.-; AltName: Full=Autocrine motility factor receptor; Short=AMF receptor; AltName: Full=RING finger protein 45; AltName: Full=gp78;
FUNCTION: E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97- AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97- AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into the cytosol for subsequent destruction. Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation. Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with RNF5. Also forms an ERAD complex containing VCP/p97, NGLY1; PSMC1; SAKS1 AND RAD23B required for coupling retrotranslocation, ubiquitination and deglycosylation (By similarity). Interacts with DRL1. Interacts (through a region distinct from the RING finger) with UBE2G2/UBC7. Component of the VCP/p97-AMFR/gp78 complex that enhances VCP/p97 binding to polyubiquitinated proteins for their degradation by the endoplasmic reticulum-associated degradation (ERAD) pathway. Interacts (via the VIM) with VCP/p97. Interacts (via its membrane domain) with INSIG1; the interaction initiates the sterol-mediated ubiquitination and degradation of HMGCR by the ERAD pathway.
INTERACTION: P55072:VCP; NbExp=6; IntAct=EBI-1046379, EBI-355164;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
DOMAIN: The VCP/p97-interacting motif (VIM) is sufficient for binding VCP/p97 to form a complex capable of transfering VCP/p97 from the cytosol to microsomes.
SIMILARITY: Contains 1 CUE domain.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=AAA36671.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=AAA79362.1; Type=Frameshift; Positions=355, 388, 411, 487, 537, 583, 632;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

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-  MalaCards Disease Associations
  MalaCards Gene Search: AMFR
Diseases sorted by gene-association score: bladder cancer, somatic (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.41 RPKM in Testis
Total median expression: 1041.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -129.60218-0.594 Picture PostScript Text
3' UTR -463.701457-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026608 - Amfr
IPR003892 - CUE
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF02845 - CUE domain
PF13639 - Ring finger domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EJS - NMR MuPIT 3FSH - X-ray 3H8K - X-ray MuPIT 3TIW - X-ray MuPIT 4G3O - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UKV5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0030674 protein binding, bridging
GO:0034450 ubiquitin-ubiquitin ligase activity
GO:0038023 signaling receptor activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051087 chaperone binding
GO:0061630 ubiquitin protein ligase activity
GO:1904288 BAT3 complex binding
GO:1990381 ubiquitin-specific protease binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006457 protein folding
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007165 signal transduction
GO:0007568 aging
GO:0007611 learning or memory
GO:0016567 protein ubiquitination
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0032092 positive regulation of protein binding
GO:0051259 protein oligomerization
GO:0051865 protein autoubiquitination
GO:0070936 protein K48-linked ubiquitination
GO:1904380 endoplasmic reticulum mannose trimming

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030425 dendrite
GO:0030426 growth cone
GO:0032991 macromolecular complex
GO:0036513 Derlin-1 retrotranslocation complex
GO:0043025 neuronal cell body
GO:0044322 endoplasmic reticulum quality control compartment
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC051032 - Homo sapiens autocrine motility factor receptor, mRNA (cDNA clone IMAGE:5575611), with apparent retained intron.
LF384422 - JP 2014500723-A/191925: Polycomb-Associated Non-Coding RNAs.
MA619999 - JP 2018138019-A/191925: Polycomb-Associated Non-Coding RNAs.
M63175 - Human autocrine motility factor receptor mRNA.
AK023874 - Homo sapiens cDNA FLJ13812 fis, clone THYRO1000327, highly similar to Homo sapiens autocrine motility factor receptor (AMFR) mRNA.
LF373595 - JP 2014500723-A/181098: Polycomb-Associated Non-Coding RNAs.
MA609172 - JP 2018138019-A/181098: Polycomb-Associated Non-Coding RNAs.
JD304278 - Sequence 285302 from Patent EP1572962.
JD210077 - Sequence 191101 from Patent EP1572962.
LF373596 - JP 2014500723-A/181099: Polycomb-Associated Non-Coding RNAs.
MA609173 - JP 2018138019-A/181099: Polycomb-Associated Non-Coding RNAs.
BC056869 - Homo sapiens autocrine motility factor receptor, mRNA (cDNA clone IMAGE:5109314), partial cds.
BC017043 - Homo sapiens autocrine motility factor receptor, mRNA (cDNA clone IMAGE:3904362), partial cds.
BC069197 - Homo sapiens autocrine motility factor receptor, mRNA (cDNA clone MGC:78441 IMAGE:6650026), complete cds.
AK123962 - Homo sapiens cDNA FLJ41968 fis, clone RECTM2001666, moderately similar to Homo sapiens autocrine motility factor receptor (AMFR).
AF124145 - Homo sapiens autocrine motility factor receptor (AMFR) mRNA, complete cds.
L35233 - Homo sapiens autocrine motility factor receptor (AMFR) mRNA, complete cds.
JD203440 - Sequence 184464 from Patent EP1572962.
JD248658 - Sequence 229682 from Patent EP1572962.
JD487576 - Sequence 468600 from Patent EP1572962.
JD219596 - Sequence 200620 from Patent EP1572962.
JD352664 - Sequence 333688 from Patent EP1572962.
JD297781 - Sequence 278805 from Patent EP1572962.
JD277044 - Sequence 258068 from Patent EP1572962.
JD252160 - Sequence 233184 from Patent EP1572962.
LF208227 - JP 2014500723-A/15730: Polycomb-Associated Non-Coding RNAs.
MA443804 - JP 2018138019-A/15730: Polycomb-Associated Non-Coding RNAs.
JD157933 - Sequence 138957 from Patent EP1572962.
LF373599 - JP 2014500723-A/181102: Polycomb-Associated Non-Coding RNAs.
MA609176 - JP 2018138019-A/181102: Polycomb-Associated Non-Coding RNAs.
JD377168 - Sequence 358192 from Patent EP1572962.
JD454861 - Sequence 435885 from Patent EP1572962.
JD442622 - Sequence 423646 from Patent EP1572962.
JD451229 - Sequence 432253 from Patent EP1572962.
JD535967 - Sequence 516991 from Patent EP1572962.
JD370641 - Sequence 351665 from Patent EP1572962.
JD453895 - Sequence 434919 from Patent EP1572962.
JD233634 - Sequence 214658 from Patent EP1572962.
LF373600 - JP 2014500723-A/181103: Polycomb-Associated Non-Coding RNAs.
MA609177 - JP 2018138019-A/181103: Polycomb-Associated Non-Coding RNAs.
JD181746 - Sequence 162770 from Patent EP1572962.
JD462557 - Sequence 443581 from Patent EP1572962.
JD315993 - Sequence 297017 from Patent EP1572962.
JD196196 - Sequence 177220 from Patent EP1572962.
JD187476 - Sequence 168500 from Patent EP1572962.
JD354768 - Sequence 335792 from Patent EP1572962.
JD139132 - Sequence 120156 from Patent EP1572962.
JD289269 - Sequence 270293 from Patent EP1572962.
JD175013 - Sequence 156037 from Patent EP1572962.
JD157835 - Sequence 138859 from Patent EP1572962.
JD172865 - Sequence 153889 from Patent EP1572962.
JD042043 - Sequence 23067 from Patent EP1572962.
JD156672 - Sequence 137696 from Patent EP1572962.
LF373604 - JP 2014500723-A/181107: Polycomb-Associated Non-Coding RNAs.
MA609181 - JP 2018138019-A/181107: Polycomb-Associated Non-Coding RNAs.
JD043598 - Sequence 24622 from Patent EP1572962.
LF373607 - JP 2014500723-A/181110: Polycomb-Associated Non-Coding RNAs.
MA609184 - JP 2018138019-A/181110: Polycomb-Associated Non-Coding RNAs.
DQ579814 - Homo sapiens piRNA piR-47926, complete sequence.
LF373611 - JP 2014500723-A/181114: Polycomb-Associated Non-Coding RNAs.
MA609188 - JP 2018138019-A/181114: Polycomb-Associated Non-Coding RNAs.
DQ591047 - Homo sapiens piRNA piR-58159, complete sequence.
DQ579256 - Homo sapiens piRNA piR-47368, complete sequence.
DL492448 - Novel nucleic acids.
DL490926 - Novel nucleic acids.
JD142351 - Sequence 123375 from Patent EP1572962.
JD368839 - Sequence 349863 from Patent EP1572962.
JD210642 - Sequence 191666 from Patent EP1572962.
JD476124 - Sequence 457148 from Patent EP1572962.
JD125254 - Sequence 106278 from Patent EP1572962.
JD462439 - Sequence 443463 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UKV5 (Reactome details) participates in the following event(s):

R-HSA-8850594 Deglycosylation complex hydrolyses N-glycans from unfolded glycoproteins
R-HSA-8867288 OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5
R-HSA-1022127 OS9:SEL1:ERAD E3 ligase:DERL2 transports Ub-unfolded protein:(GlcNAc)2 (Man)9-5 from ERQC to cytosol
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-901032 ER Quality Control Compartment (ERQC)
R-HSA-597592 Post-translational protein modification
R-HSA-901042 Calnexin/calreticulin cycle
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AMFR_HUMAN, ENST00000290649.1, ENST00000290649.2, ENST00000290649.3, ENST00000290649.4, ENST00000290649.5, ENST00000290649.6, ENST00000290649.7, ENST00000290649.8, ENST00000290649.9, NM_001323512, P26442, Q8IZ70, Q9UKV5, RNF45, uc002eiy.1, uc002eiy.2, uc002eiy.3, uc002eiy.4, uc002eiy.5
UCSC ID: ENST00000290649.10
RefSeq Accession: NM_001144
Protein: Q9UKV5 (aka AMFR_HUMAN)
CCDS: CCDS10758.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.