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2024-04-19 20:05:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001144 3631 bp mRNA linear PRI 19-MAY-2013
DEFINITION Homo sapiens autocrine motility factor receptor, E3 ubiquitin
protein ligase (AMFR), mRNA.
ACCESSION NM_001144
VERSION NM_001144.5 GI:378744169
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3631)
AUTHORS Liu,S., Chen,Y., Li,J., Huang,T., Tarasov,S., King,A.,
Weissman,A.M., Byrd,R.A. and Das,R.
TITLE Promiscuous interactions of gp78 E3 ligase CUE domain with
polyubiquitin chains
JOURNAL Structure 20 (12), 2138-2150 (2012)
PUBMED 23123110
REMARK GeneRIF: The GP78 CUE domain functions to both facilitate substrate
binding and enable switching between adjacent ubiquitin molecules
of a growing chain to enable processivity in ubiquitination.
REFERENCE 2 (bases 1 to 3631)
AUTHORS Chen,Z., Du,S. and Fang,S.
TITLE gp78: a multifaceted ubiquitin ligase that integrates a unique
protein degradation pathway from the endoplasmic reticulum
JOURNAL Curr. Protein Pept. Sci. 13 (5), 414-424 (2012)
PUBMED 22812524
REMARK GeneRIF: This review summarizes the structure and function of GP78,
and its importance in both physiological and pathological
processes.[review]
Review article
REFERENCE 3 (bases 1 to 3631)
AUTHORS St-Pierre,P., Dang,T., Joshi,B. and Nabi,I.R.
TITLE Peripheral endoplasmic reticulum localization of the Gp78 ubiquitin
ligase activity
JOURNAL J. Cell. Sci. 125 (PT 7), 1727-1737 (2012)
PUBMED 22328510
REMARK GeneRIF: Delivery of ubiquitylated substrate to the central ER was
regulated by ubiquitin chain elongation and opposing actions of
gp78 CUE domain interactions and p97 recruitment.
REFERENCE 4 (bases 1 to 3631)
AUTHORS Grund,S., Olsson,B., Jernas,M., Jacobsson,S., Swolin,B., Nabi,I.R.,
Carlsson,L. and Wadenvik,H.
TITLE The autocrine motility factor receptor is overexpressed on the
surface of B cells in Binet C chronic lymphocytic leukemia
JOURNAL Med. Oncol. 28 (4), 1542-1548 (2011)
PUBMED 20574759
REMARK GeneRIF: cell surface expression of AMFR is associated with
progression in Chronic lymphocytic leukemia
REFERENCE 5 (bases 1 to 3631)
AUTHORS Jo,Y., Sguigna,P.V. and DeBose-Boyd,R.A.
TITLE Membrane-associated ubiquitin ligase complex containing gp78
mediates sterol-accelerated degradation of
3-hydroxy-3-methylglutaryl-coenzyme A reductase
JOURNAL J. Biol. Chem. 286 (17), 15022-15031 (2011)
PUBMED 21343306
REMARK GeneRIF: identify two ER membrane proteins, SPFH2 and TMUB1, as
associated proteins of gp78, a membrane-bound ubiquitin ligase that
mediates sterol-accelerated ERAD of the cholesterol biosynthetic
enzyme HMG-CoA reductase.
REFERENCE 6 (bases 1 to 3631)
AUTHORS Luo,Y., Long,J.M., Lu,C., Chan,S.L., Spangler,E.L., Mascarucci,P.,
Raz,A., Longo,D.L., Mattson,M.P., Ingram,D.K. and Weng,N.P.
TITLE A link between maze learning and hippocampal expression of
neuroleukin and its receptor gp78
JOURNAL J. Neurochem. 80 (2), 354-361 (2002)
PUBMED 11902125
REMARK GeneRIF: hippocampal expression of NLK and its receptor gp78 is
associated with maze learning in rats.
REFERENCE 7 (bases 1 to 3631)
AUTHORS Fang,S., Ferrone,M., Yang,C., Jensen,J.P., Tiwari,S. and
Weissman,A.M.
TITLE The tumor autocrine motility factor receptor, gp78, is a ubiquitin
protein ligase implicated in degradation from the endoplasmic
reticulum
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (25), 14422-14427 (2001)
PUBMED 11724934
REFERENCE 8 (bases 1 to 3631)
AUTHORS Shimizu,K., Tani,M., Watanabe,H., Nagamachi,Y., Niinaka,Y.,
Shiroishi,T., Ohwada,S., Raz,A. and Yokota,J.
TITLE The autocrine motility factor receptor gene encodes a novel type of
seven transmembrane protein
JOURNAL FEBS Lett. 456 (2), 295-300 (1999)
PUBMED 10456327
REFERENCE 9 (bases 1 to 3631)
AUTHORS Huang,B., Xie,Y. and Raz,A.
TITLE Identification of an upstream region that controls the
transcription of the human autocrine motility factor receptor
JOURNAL Biochem. Biophys. Res. Commun. 212 (3), 727-742 (1995)
PUBMED 7626106
REFERENCE 10 (bases 1 to 3631)
AUTHORS Watanabe,H., Carmi,P., Hogan,V., Raz,T., Silletti,S., Nabi,I.R. and
Raz,A.
TITLE Purification of human tumor cell autocrine motility factor and
molecular cloning of its receptor
JOURNAL J. Biol. Chem. 266 (20), 13442-13448 (1991)
PUBMED 1649192
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC069197.1, BX345849.2,
CA748782.1, AC009102.10, BX409690.2 and AA767223.1.
On Feb 28, 2012 this sequence version replaced gi:85815824.
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 catalyzes ubiquitination and endoplasmic
reticulum-associated degradation of specific proteins. [provided by
RefSeq, Feb 2012].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC069197.1, AF124145.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2477 BC069197.1 1-2477
2478-2478 BX345849.2 166-166
2479-3072 BC069197.1 2479-3072
3073-3288 CA748782.1 320-535 c
3289-3298 AC009102.10 35727-35736
3299-3353 CA748782.1 265-319 c
3354-3354 BX409690.2 220-220
3355-3631 AA767223.1 1-277 c
FEATURES Location/Qualifiers
source 1..3631
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q21"
gene 1..3631
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/note="autocrine motility factor receptor, E3 ubiquitin
protein ligase"
/db_xref="GeneID:267"
/db_xref="HGNC:463"
/db_xref="HPRD:09130"
/db_xref="MIM:603243"
exon 1..466
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
CDS 212..2143
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/EC_number="6.3.2.19"
/note="RING finger protein 45"
/codon_start=1
/product="E3 ubiquitin-protein ligase AMFR"
/protein_id="NP_001135.3"
/db_xref="GI:21071001"
/db_xref="CCDS:CCDS10758.1"
/db_xref="GeneID:267"
/db_xref="HGNC:463"
/db_xref="HPRD:09130"
/db_xref="MIM:603243"
/translation="
MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPGEPDQLTASLQPEPPAPARPSAGGPRARDVAQYLLSDSLFVWVLVNTACCVLMLVAKLIQCIVFGPLRVSERQHLKDKFWNFIFYKFIFIFGVLNVQTVEEVVMWCLWFAGLVFLHLMVQLCKDRFEYLSFSPTTPMSSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAFMAAESLLVTVRTAHVILRYVIHLWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHHIHMLLFGNIWLSMASLVIFMQLRYLFHEVQRRIRRHKNYLRVVGNMEARFAVATPEELAVNNDDCAICWDSMQAARKLPCGHLFHNSCLRSWLEQDTSCPTCRMSLNIADNNRVREEHQGENLDENLVPVAAAEGRPRLNQHNHFFHFDGSRIASWLPSFSVEVMHTTNILGITQASNSQLNAMAHQIQEMFPQVPYHLVLQDLQLTRSVEITTDNILEGRIQVPFPTQRSDSIRPALNSPVERPSSDQEEGETSAQTERVPLDLSPRLEETLDFGEVEVEPSEVEDFEARGSRFSKSADERQRMLVQRKDELLQQARKRFLNKSSEDDAASESFLPSEGASSDPVTLRRRMLAAAAERRLQKQQTS
"
misc_feature 455..517
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 467..>1357
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/note="HRD ubiquitin ligase complex, ER membrane component
[Posttranslational modification, protein turnover,
chaperones]; Region: HRD1; COG5243"
/db_xref="CDD:34840"
misc_feature 575..637
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 644..706
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 767..829
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 854..916
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 1037..1099
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 1229..1357
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/note="RING-finger (Really Interesting New Gene) domain, a
specialized type of Zn-finger of 40 to 60 residues that
binds two atoms of zinc; defined by the 'cross-brace'
motif C-X2-C-X(9-39)-C-X(1-3)-
H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved
in...; Region: RING; cd00162"
/db_xref="CDD:29102"
misc_feature order(1232..1234,1241..1243,1277..1279,1283..1285,
1292..1294,1301..1303,1334..1336,1343..1345)
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/note="cross-brace motif; other site"
/db_xref="CDD:29102"
misc_feature 1496..1558
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
transmembrane region"
misc_feature 1577..1702
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/note="Domain that may be involved in binding
ubiquitin-conjugating enzymes (UBCs); Region: CUE;
smart00546"
/db_xref="CDD:197783"
misc_feature 1757..1759
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9UKV5.2); phosphorylation site"
misc_feature 2051..2140
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKV5.2);
Region: VCP/p97-interacting motif (VIM)"
exon 467..559
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 560..724
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
STS 648..736
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/standard_name="D7S2301E"
/db_xref="UniSTS:147336"
exon 725..877
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 878..918
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 919..1051
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1052..1185
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1186..1296
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1297..1487
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1488..1591
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1592..1726
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1727..1810
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1811..1995
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
exon 1996..3600
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/inference="alignment:Splign:1.39.8"
variation 2041
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="c"
/replace="t"
/db_xref="dbSNP:1804880"
variation 2478
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="a"
/replace="g"
/db_xref="dbSNP:4924"
variation 2838
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050876"
variation 2860
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="c"
/replace="t"
/db_xref="dbSNP:13468"
variation 2889
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804879"
STS 2924..3050
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/standard_name="SHGC-60751"
/db_xref="UniSTS:21603"
variation 2996
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/replace="a"
/replace="g"
/db_xref="dbSNP:1050889"
STS 3080..3415
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/standard_name="SHGC-60972"
/db_xref="UniSTS:51932"
STS 3105..3229
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/standard_name="SHGC-61049"
/db_xref="UniSTS:77394"
STS 3349..3493
/gene="AMFR"
/gene_synonym="GP78; RNF45"
/standard_name="RH70754"
/db_xref="UniSTS:64201"
polyA_signal 3583..3588
/gene="AMFR"
/gene_synonym="GP78; RNF45"
polyA_site 3600
/gene="AMFR"
/gene_synonym="GP78; RNF45"
ORIGIN
ctcttccgcgccggcaggggcagcagcgggagcagcgcggggcggagcggcgccagcagccaggagcggcccggcccggcccggcgcggcggcggcggcggcagcggcagcggcagcgacgccagagcccgtgggcgccgttcgcgaggccgccgcagaggcccggccgcagcgcagggaagcctgggggccagaggtcgccgctgccgccatgccgctgctcttcctcgagcgcttcccctggcccagcctccgcacctacacgggcctcagcggcctggccctgctgggcaccatcatcagcgcctaccgcgcgctcagccagcccgaggccggccccggcgagccggaccagctaacggcctcgctgcagcctgagccgccggcgcccgcccggccgagcgccgggggaccccgggcccgcgatgtggcccagtacctgctctcagacagcctcttcgtgtgggttctagtaaataccgcttgctgtgttttgatgttggtggctaagctcatccagtgtattgtgtttggccctcttcgagtgagtgagagacagcatctcaaagacaaattttggaattttattttctacaagttcattttcatctttggtgtgctgaatgtccagacagtggaagaggtggtcatgtggtgcctctggtttgccggacttgtctttctgcacctgatggttcagctctgcaaggatcgatttgaatatctttccttctcgcccaccacgccgatgagcagccacggtcgagtcctgtccctgttggttgccatgctgctttcctgctgtggactggcggccgtctgctccatcaccggctacacccacggaatgcacaccttggctttcatggctgcagagtctcttcttgtgacagtgaggactgctcatgtgattttacgatacgtaattcacctctgggacctcaaccacgaagggacgtgggaaggaaaggggacgtatgtctattacacagactttgtcatggagctcactctcctgtccctggacctcatgcaccatattcacatgttgttatttggcaacatctggttatccatggccagcctggtcatctttatgcagctgcgttacctgtttcatgaggtgcaacgtcgaattcgtcggcacaagaactatctacgtgtggttggaaacatggaggccaggtttgcagttgcaactccagaggagctggctgtcaacaatgacgactgtgccatctgttgggactccatgcaggctgcgcggaaactgccctgtggacatcttttccacaactcctgtcttcgttcctggctagaacaagacacctcctgtccaacatgcagaatgtctcttaatattgccgacaataatcgtgtcagggaagaacatcaaggagagaacttggatgagaatttggttcctgtagcagcagccgaagggagacctcgcttaaaccaacacaatcacttcttccatttcgatgggtctcggattgcgagctggctgccgagtttttcggttgaagtgatgcacaccaccaacattcttggcattacgcaggccagcaactcccagctcaatgcaatggctcatcagattcaagagatgtttccccaggttccataccatctggtactgcaggacctccagctgacacgctcagttgaaataacaacagacaatattttagaaggacggattcaagtaccttttcctacacagcggtcagatagcatcagacctgcattgaacagtcctgtggaaaggccaagcagtgaccaggaagagggagaaacttctgctcagaccgagcgtgtgccactggacctcagtcctcgcctggaggagacgctggacttcggcgaggtggaagtggagcccagtgaggtggaagacttcgaggctcgtgggagccgcttctccaagtctgctgatgagagacagcgcatgctggtgcagcgtaaggacgaactcctccagcaagctcgcaaacgtttcttgaacaaaagttctgaagatgatgcggcctcagagagcttcctcccctcggaaggtgcgtcctctgaccccgtgaccctgcgtcgaaggatgctggctgccgccgcggaacggaggcttcagaagcagcagacctcctagcgctcccttgccttcctcagctgcctcctgcgccctgtgcccgactgactggaggaggcctgtcccaattctgcccgctccatggaaaagcgggcttgactgcattgccgctgtataaagcatgtggtcttatagtgtttggacagctgataaatttaatccttctttgtaatactttctatgtgacatttctcttccccttagaaacactgcaaattttaactgtaggtatgatctcttctggtgttgactggactgcttggggtgggggacgatcaggaggaagtgagcagtcgcctgcctgcagcaggcagcttctactcctgcctcatgcgtacgtcccacaaatgcaggtgtcctgagcaccacacccagtgggaagagtgtgggggaggcgcacagtgtgagcccgcccccacgtcgtggggtaacatctgttatcaaactgctgtcgttgttgtggaagcatgtagactgtgccagaggccagacccacgggctcatgcacccctgagccagcagggcatcttggaaaaggaactcttggttcgatacctggagcagaggaggggaaagtccagggctatagggtgtgatgaagtcacccctttctgtcccactacatctgggactgactttccgagcctccagtccaaagccggcttgatttccgtgaactctggtgctcctgcatctcatgagtgtgccccatgggtcccctcccctctcagcatttccttgtcccgtctggacctggggagtggttaggcagcaagctttggtttatggttttcattcattggtgaagtaaattaggcagtgctaaagcctgtgggtttggtccttgaacaagatgtgggccttgcaagatgggagagtaaaccttgaagggctttattaaagaaataaaaaagaacttttgtatcttttatcctgggagcactgcgttttcctagctgtgttattcctggtttaattcagcagagaaggtaaggtgtgaacctacctgccttggagagggcccaggtcccaaatctcttcaaattcttcacatgtttaactttaaggatttgaaccatgaagtcataggttacagacctcagttttatgccccattggattactttttttttttttttttttttttttttttttactctttgaaagctttgttttgtggtagtccttttgggaagaatccagtattatccacaattattggcaaagtttaaatgtattttacataacggaaagtttttagaatgttgaaaagtaattgaaaaaggtgataggtaaatttttaggcaaagataatttatttcaataaatctttcaaaagccttaccttgaaatgctgttagtaaatttctgtgatttttttttttaatttgttttgctgagagcatagctatttgtttttattgtaaaacaataataataataaaaagcaaactctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:267 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
GeneID:267 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IMP
GeneID:267 -> Molecular function: GO:0004872 [receptor activity] evidence: IPI
GeneID:267 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:267 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:267 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: IDA
GeneID:267 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: IMP
GeneID:267 -> Biological process: GO:0006928 [cellular component movement] evidence: TAS
GeneID:267 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:267 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: IDA
GeneID:267 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: IMP
GeneID:267 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: IMP
GeneID:267 -> Biological process: GO:0051259 [protein oligomerization] evidence: IDA
GeneID:267 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
GeneID:267 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001135 -> EC 6.3.2.19
by
@meso_cacase at
DBCLS
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