UniProtKB - Q9UKV5 (AMFR_HUMAN)
E3 ubiquitin-protein ligase AMFR
AMFR
Functioni
Catalytic activityi
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.Curated EC:2.3.2.27
: protein ubiquitination Pathwayi
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.2 PublicationsView all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 341 – 379 | RING-typePROSITE-ProRule annotationAdd BLAST | 39 |
GO - Molecular functioni
- BAT3 complex binding Source: ParkinsonsUK-UCL
- chaperone binding Source: ParkinsonsUK-UCL
- identical protein binding Source: IntAct
- metal ion binding Source: UniProtKB-KW
- protein-macromolecule adaptor activity Source: ParkinsonsUK-UCL
- signaling receptor activity Source: UniProtKB
- ubiquitin binding Source: InterPro
- ubiquitin protein ligase activity Source: ParkinsonsUK-UCL
- ubiquitin-protein transferase activity Source: UniProtKB
- ubiquitin-specific protease binding Source: ParkinsonsUK-UCL
- ubiquitin-ubiquitin ligase activity Source: ParkinsonsUK-UCL
GO - Biological processi
- aging Source: Ensembl
- endoplasmic reticulum mannose trimming Source: Reactome
- endoplasmic reticulum unfolded protein response Source: UniProtKB
- learning or memory Source: Ensembl
- negative regulation of canonical Wnt signaling pathway Source: UniProtKB
- positive regulation of protein binding Source: ParkinsonsUK-UCL
- protein autoubiquitination Source: ParkinsonsUK-UCL
- protein folding Source: Reactome
- protein K48-linked ubiquitination Source: ParkinsonsUK-UCL
- protein polyubiquitination Source: UniProtKB
- protein ubiquitination Source: GO_Central
- regulation of SREBP signaling pathway Source: UniProtKB
- signal transduction Source: ProtInc
- ubiquitin-dependent ERAD pathway Source: UniProtKB
- ubiquitin-dependent protein catabolic process Source: UniProtKB
- Wnt signaling pathway Source: UniProtKB-KW
Keywordsi
Molecular function | Receptor, Transferase |
Biological process | Ubl conjugation pathway, Wnt signaling pathway |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 2.3.2.B10, 2681 |
PathwayCommonsi | Q9UKV5 |
Reactomei | R-HSA-532668, N-glycan trimming in the ER and Calnexin/Calreticulin cycle R-HSA-901032, ER Quality Control Compartment (ERQC) |
SIGNORi | Q9UKV5 |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: E3 ubiquitin-protein ligase AMFR (EC:2.3.2.27Curated)Alternative name(s): Autocrine motility factor receptor1 Publication Short name: AMF receptor1 Publication RING finger protein 45 gp781 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:463, AMFR |
MIMi | 603243, gene |
neXtProti | NX_Q9UKV5 |
VEuPathDBi | HostDB:ENSG00000159461.14 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein 1 Publication
Note: Palmitoylation promotes localization to the peripheral endoplasmic reticulum.1 Publication
Cytosol
- cytosol Source: GO_Central
Endoplasmic reticulum
- Derlin-1 retrotranslocation complex Source: UniProtKB
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB
- endoplasmic reticulum quality control compartment Source: GOC
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nucleus Source: Ensembl
Other locations
- dendrite Source: Ensembl
- growth cone Source: Ensembl
- integral component of membrane Source: UniProtKB
- membrane Source: UniProtKB
- neuronal cell body Source: Ensembl
- perinuclear region of cytoplasm Source: ParkinsonsUK-UCL
- protein-containing complex Source: MGI
- ubiquitin ligase complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 82 – 102 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 122 – 142 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 145 – 165 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 186 – 206 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 215 – 235 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 276 – 296 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 429 – 449 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 341 – 344 | CAIC → AAIA: Decreased palmitoylation. 1 Publication | 4 | |
Mutagenesisi | 356 | C → A: Decreased palmitoylation. No degradation of HMGCR. 2 Publications | 1 | |
Mutagenesisi | 364 | C → A: Decreased palmitoylation. 1 Publication | 1 | |
Mutagenesisi | 375 – 378 | CPTC → APTA: Decreased palmitoylation. 1 Publication | 4 |
Organism-specific databases
DisGeNETi | 267 |
OpenTargetsi | ENSG00000159461 |
PharmGKBi | PA24768 |
Miscellaneous databases
Pharosi | Q9UKV5, Tbio |
Genetic variation databases
BioMutai | AMFR |
DMDMi | 34922250 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064579 | 1 – 643 | E3 ubiquitin-protein ligase AMFRAdd BLAST | 643 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 516 | PhosphoserineCombined sources | 1 | |
Modified residuei | 523 | PhosphoserineCombined sources | 1 | |
Modified residuei | 542 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Lipoprotein, Palmitate, PhosphoproteinProteomic databases
EPDi | Q9UKV5 |
jPOSTi | Q9UKV5 |
MassIVEi | Q9UKV5 |
MaxQBi | Q9UKV5 |
PaxDbi | Q9UKV5 |
PeptideAtlasi | Q9UKV5 |
PRIDEi | Q9UKV5 |
ProteomicsDBi | 54350 84893 |
PTM databases
iPTMneti | Q9UKV5 |
PhosphoSitePlusi | Q9UKV5 |
SwissPalmi | Q9UKV5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000159461, Expressed in testis and 237 other tissues |
ExpressionAtlasi | Q9UKV5, baseline and differential |
Genevisiblei | Q9UKV5, HS |
Organism-specific databases
HPAi | ENSG00000159461, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with RNF5 (By similarity). Also forms an ERAD complex containing VCP/p97, NGLY1; PSMC1; SAKS1 AND RAD23B required for coupling retrotranslocation, ubiquitination and deglycosylation (By similarity).
Interacts with DERL1 (PubMed:16186510).
Interacts (through a region distinct from the RING finger) with UBE2G2/UBC7 (PubMed:11724934).
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 (By similarity).
Interacts (via the VIM) with VCP/p97 (PubMed:16168377, PubMed:16186510).
Interacts (via its membrane domain) with INSIG1; the interaction initiates the sterol-mediated ubiquitination and degradation of HMGCR by the ERAD pathway (PubMed:16168377, PubMed:22143767).
Interacts with AUP1, UBE2G2 and RNF139/TRC8; interaction with AUP1 facilitates interaction of AMFR with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase RNF139, leading to sterol-induced ubiquitination of HMGCR and its subsequent proteasomal degradation (PubMed:23223569).
Interacts with BAG6 (PubMed:21636303).
Interacts with USP13 (via UBA 2 domain); the interaction is direct (PubMed:24424410).
Interacts with LMBR1L (PubMed:31073040).
Interacts with UBAC2 and CTNNB1 (By similarity).
Interacts with C18orf32 (PubMed:29275994).
By similarity1 Publication9 PublicationsBinary interactionsi
Hide detailsQ9UKV5
GO - Molecular functioni
- chaperone binding Source: ParkinsonsUK-UCL
- identical protein binding Source: IntAct
- ubiquitin binding Source: InterPro
- ubiquitin-specific protease binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 106764, 150 interactors |
CORUMi | Q9UKV5 |
DIPi | DIP-29060N |
IntActi | Q9UKV5, 70 interactors |
MINTi | Q9UKV5 |
STRINGi | 9606.ENSP00000290649 |
Miscellaneous databases
RNActi | Q9UKV5, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9UKV5 |
SMRi | Q9UKV5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UKV5 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 456 – 498 | CUEPROSITE-ProRule annotationAdd BLAST | 43 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 622 – 640 | VCP/p97-interacting motif (VIM)1 PublicationAdd BLAST | 19 |
Domaini
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 341 – 379 | RING-typePROSITE-ProRule annotationAdd BLAST | 39 |
Keywords - Domaini
Transmembrane, Transmembrane helix, Zinc-fingerPhylogenomic databases
eggNOGi | KOG0802, Eukaryota |
GeneTreei | ENSGT00940000156482 |
HOGENOMi | CLU_015061_0_0_1 |
InParanoidi | Q9UKV5 |
OMAi | GHVIMRY |
OrthoDBi | 897451at2759 |
PhylomeDBi | Q9UKV5 |
TreeFami | TF320052 |
Family and domain databases
Gene3Di | 3.30.40.10, 1 hit |
IDEALi | IID00226 |
InterProi | View protein in InterPro IPR040675, AMFR_Ube2g2-bd IPR003892, CUE IPR001841, Znf_RING IPR013083, Znf_RING/FYVE/PHD |
Pfami | View protein in Pfam PF02845, CUE, 1 hit PF18442, G2BR, 1 hit PF13639, zf-RING_2, 1 hit |
SMARTi | View protein in SMART SM00546, CUE, 1 hit SM00184, RING, 1 hit |
PROSITEi | View protein in PROSITE PS51140, CUE, 1 hit PS50089, ZF_RING_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MPLLFLERFP WPSLRTYTGL SGLALLGTII SAYRALSQPE AGPGEPDQLT
60 70 80 90 100
ASLQPEPPAP ARPSAGGPRA RDVAQYLLSD SLFVWVLVNT ACCVLMLVAK
110 120 130 140 150
LIQCIVFGPL RVSERQHLKD KFWNFIFYKF IFIFGVLNVQ TVEEVVMWCL
160 170 180 190 200
WFAGLVFLHL MVQLCKDRFE YLSFSPTTPM SSHGRVLSLL VAMLLSCCGL
210 220 230 240 250
AAVCSITGYT HGMHTLAFMA AESLLVTVRT AHVILRYVIH LWDLNHEGTW
260 270 280 290 300
EGKGTYVYYT DFVMELTLLS LDLMHHIHML LFGNIWLSMA SLVIFMQLRY
310 320 330 340 350
LFHEVQRRIR RHKNYLRVVG NMEARFAVAT PEELAVNNDD CAICWDSMQA
360 370 380 390 400
ARKLPCGHLF HNSCLRSWLE QDTSCPTCRM SLNIADNNRV REEHQGENLD
410 420 430 440 450
ENLVPVAAAE GRPRLNQHNH FFHFDGSRIA SWLPSFSVEV MHTTNILGIT
460 470 480 490 500
QASNSQLNAM AHQIQEMFPQ VPYHLVLQDL QLTRSVEITT DNILEGRIQV
510 520 530 540 550
PFPTQRSDSI RPALNSPVER PSSDQEEGET SAQTERVPLD LSPRLEETLD
560 570 580 590 600
FGEVEVEPSE VEDFEARGSR FSKSADERQR MLVQRKDELL QQARKRFLNK
610 620 630 640
SSEDDAASES FLPSEGASSD PVTLRRRMLA AAAERRLQKQ QTS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketR4GNG2 | R4GNG2_HUMAN | E3 ubiquitin-protein ligase AMFR | AMFR | 299 | Annotation score: | ||
H3BRK9 | H3BRK9_HUMAN | E3 ubiquitin-protein ligase AMFR | AMFR | 288 | Annotation score: | ||
H3BQM3 | H3BQM3_HUMAN | E3 ubiquitin-protein ligase AMFR | AMFR | 165 | Annotation score: | ||
H3BSK3 | H3BSK3_HUMAN | E3 ubiquitin-protein ligase AMFR | AMFR | 229 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 406 | V → D in AAA79362 (PubMed:7626106).Curated | 1 | |
Sequence conflicti | 491 | D → V in AAA79362 (PubMed:7626106).Curated | 1 | |
Sequence conflicti | 500 | V → L in AAA79362 (PubMed:7626106).Curated | 1 | |
Sequence conflicti | 614 | S → L in AAD56722 (PubMed:10456327).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035790 | 605 | D → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs373191257Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF124145 mRNA Translation: AAD56722.1 BC069197 mRNA Translation: AAH69197.1 L35233 mRNA Translation: AAA79362.1 Frameshift. M63175 mRNA Translation: AAA36671.1 Sequence problems. |
CCDSi | CCDS10758.1 |
PIRi | A39877 |
RefSeqi | NP_001135.3, NM_001144.5 NP_001310441.1, NM_001323512.1 |
Genome annotation databases
Ensembli | ENST00000290649; ENSP00000290649; ENSG00000159461 |
GeneIDi | 267 |
KEGGi | hsa:267 |
UCSCi | uc002eiy.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF124145 mRNA Translation: AAD56722.1 BC069197 mRNA Translation: AAH69197.1 L35233 mRNA Translation: AAA79362.1 Frameshift. M63175 mRNA Translation: AAA36671.1 Sequence problems. |
CCDSi | CCDS10758.1 |
PIRi | A39877 |
RefSeqi | NP_001135.3, NM_001144.5 NP_001310441.1, NM_001323512.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EJS | NMR | - | A | 452-502 | [»] | |
2LVN | NMR | - | C | 453-504 | [»] | |
2LVO | NMR | - | C | 453-504 | [»] | |
2LVP | NMR | - | C | 453-504 | [»] | |
2LVQ | NMR | - | D | 453-504 | [»] | |
2LXH | NMR | - | C | 313-393 | [»] | |
2LXP | NMR | - | B | 574-600 | [»] | |
C | 327-384 | [»] | ||||
3FSH | X-ray | 2.76 | C | 574-601 | [»] | |
3H8K | X-ray | 1.80 | B | 573-600 | [»] | |
3TIW | X-ray | 1.80 | C/D | 622-640 | [»] | |
4G3O | X-ray | 1.60 | A | 456-498 | [»] | |
4LAD | X-ray | 2.30 | B | 313-393 | [»] | |
B | 574-600 | [»] | ||||
BMRBi | Q9UKV5 | |||||
SMRi | Q9UKV5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106764, 150 interactors |
CORUMi | Q9UKV5 |
DIPi | DIP-29060N |
IntActi | Q9UKV5, 70 interactors |
MINTi | Q9UKV5 |
STRINGi | 9606.ENSP00000290649 |
PTM databases
iPTMneti | Q9UKV5 |
PhosphoSitePlusi | Q9UKV5 |
SwissPalmi | Q9UKV5 |
Genetic variation databases
BioMutai | AMFR |
DMDMi | 34922250 |
Proteomic databases
EPDi | Q9UKV5 |
jPOSTi | Q9UKV5 |
MassIVEi | Q9UKV5 |
MaxQBi | Q9UKV5 |
PaxDbi | Q9UKV5 |
PeptideAtlasi | Q9UKV5 |
PRIDEi | Q9UKV5 |
ProteomicsDBi | 54350 84893 |
Protocols and materials databases
Antibodypediai | 14770, 276 antibodies |
Genome annotation databases
Ensembli | ENST00000290649; ENSP00000290649; ENSG00000159461 |
GeneIDi | 267 |
KEGGi | hsa:267 |
UCSCi | uc002eiy.4, human |
Organism-specific databases
CTDi | 267 |
DisGeNETi | 267 |
GeneCardsi | AMFR |
HGNCi | HGNC:463, AMFR |
HPAi | ENSG00000159461, Low tissue specificity |
MIMi | 603243, gene |
neXtProti | NX_Q9UKV5 |
OpenTargetsi | ENSG00000159461 |
PharmGKBi | PA24768 |
VEuPathDBi | HostDB:ENSG00000159461.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0802, Eukaryota |
GeneTreei | ENSGT00940000156482 |
HOGENOMi | CLU_015061_0_0_1 |
InParanoidi | Q9UKV5 |
OMAi | GHVIMRY |
OrthoDBi | 897451at2759 |
PhylomeDBi | Q9UKV5 |
TreeFami | TF320052 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
BRENDAi | 2.3.2.B10, 2681 |
PathwayCommonsi | Q9UKV5 |
Reactomei | R-HSA-532668, N-glycan trimming in the ER and Calnexin/Calreticulin cycle R-HSA-901032, ER Quality Control Compartment (ERQC) |
SIGNORi | Q9UKV5 |
Miscellaneous databases
BioGRID-ORCSi | 267, 18 hits in 873 CRISPR screens |
ChiTaRSi | AMFR, human |
EvolutionaryTracei | Q9UKV5 |
GeneWikii | AMFR |
GenomeRNAii | 267 |
Pharosi | Q9UKV5, Tbio |
PROi | PR:Q9UKV5 |
RNActi | Q9UKV5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159461, Expressed in testis and 237 other tissues |
ExpressionAtlasi | Q9UKV5, baseline and differential |
Genevisiblei | Q9UKV5, HS |
Family and domain databases
Gene3Di | 3.30.40.10, 1 hit |
IDEALi | IID00226 |
InterProi | View protein in InterPro IPR040675, AMFR_Ube2g2-bd IPR003892, CUE IPR001841, Znf_RING IPR013083, Znf_RING/FYVE/PHD |
Pfami | View protein in Pfam PF02845, CUE, 1 hit PF18442, G2BR, 1 hit PF13639, zf-RING_2, 1 hit |
SMARTi | View protein in SMART SM00546, CUE, 1 hit SM00184, RING, 1 hit |
PROSITEi | View protein in PROSITE PS51140, CUE, 1 hit PS50089, ZF_RING_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AMFR_HUMAN | |
Accessioni | Q9UKV5Primary (citable) accession number: Q9UKV5 Secondary accession number(s): P26442, Q8IZ70 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2003 |
Last sequence update: | June 1, 2003 | |
Last modified: | February 10, 2021 | |
This is version 184 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references