Male Infertility Database

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Gene id

267

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

AMFR Gene UCSC Ensembl

Aliases

GP78, RNF45

Gene name

autocrine motility factor receptor

Alternate names

E3 ubiquitin-protein ligase AMFR, RING finger protein 45, RING-type E3 ubiquitin transferase AMFR,

Gene location

16q13 (56425544: 56361451) Exons: 17 NC_000016.10

Gene summary(Entrez)

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

OMIM

605854

SNPs

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs699664

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.85553413C>T
NC_000002.11   g.85780536C>T
NG_011811.2   g.13122G>A
NM_000821.7   c.974G>A
NM_000821.6   c.974G>A
NM_000821.5   c.974G>A
NM_001142269.4   c.803G>A
NM_001142269.3   c.803G>A
NM_001142269.2   c.803G>A
XM_005264259.5   c.974G>A
XM_005264259.1

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0

rs7588620

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

Protein Summary

Protein general information

Q9UKV5

Name: E3 ubiquitin protein ligase AMFR (EC 2.3.2.27) (Autocrine motility factor receptor) (AMF receptor) (RING finger protein 45) (RING type E3 ubiquitin transferase AMFR) (gp78)

Length: 643 Mass: 72996

Sequence

MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPGEPDQLTASLQPEPPAPARPSAGGPRARDVAQ
YLLSDSLFVWVLVNTACCVLMLVAKLIQCIVFGPLRVSERQHLKDKFWNFIFYKFIFIFGVLNVQTVEEVVMWCL
WFAGLVFLHLMVQLCKDRFEYLSFSPTTPMSSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAFMAAESLL
VTVRTAHVILRYVIHLWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHHIHMLLFGNIWLSMASLVIFMQLRY
LFHEVQRRIRRHKNYLRVVGNMEARFAVATPEELAVNNDDCAICWDSMQAARKLPCGHLFHNSCLRSWLEQDTSC
PTCRMSLNIADNNRVREEHQGENLDENLVPVAAAEGRPRLNQHNHFFHFDGSRIASWLPSFSVEVMHTTNILGIT
QASNSQLNAMAHQIQEMFPQVPYHLVLQDLQLTRSVEITTDNILEGRIQVPFPTQRSDSIRPALNSPVERPSSDQ
EEGETSAQTERVPLDLSPRLEETLDFGEVEVEPSEVEDFEARGSRFSKSADERQRMLVQRKDELLQQARKRFLNK
SSEDDAASESFLPSEGASSDPVTLRRRMLAAAAERRLQKQQTS

Structural information

Protein Domains	(456..49-) (/note="CUE-) (/evidence="ECO:0000255\|PROSITE-ProRule:PRU00468"-)
Interpro:	IPR040675 IPR003892 IPR001841 IPR013083
Prosite:	PS51140 PS50089
PDB:	2EJS 2LVN 2LVO 2LVP 2LVQ 2LXH 2LXP 3FSH 3H8K 3TIW 4G3O 4LAD
PDBsum:	2EJS 2LVN 2LVO 2LVP 2LVQ 2LXH 2LXP 3FSH 3H8K 3TIW 4G3O 4LAD
DIP:	29060
MINT:
STRING:	ENSP00000290649

Other Databases

GeneCards: AMFR Malacards: AMFR

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:1904288	BAT3 complex binding	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0034450	ubiquitin-ubiquitin ligas e activity	IDA	molecular function
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1990381	ubiquitin-specific protea se binding	IPI	molecular function
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:1904288	BAT3 complex binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030674	protein-macromolecule ada ptor activity	IMP	molecular function
GO:0051865	protein autoubiquitinatio n	IDA	biological process
GO:0032092	positive regulation of pr otein binding	IMP	biological process
GO:0000209	protein polyubiquitinatio n	IMP	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0070936	protein K48-linked ubiqui tination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0030968	endoplasmic reticulum unf olded protein response	IBA	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0000209	protein polyubiquitinatio n	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0032991	protein-containing comple x	IDA	cellular component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1904380	endoplasmic reticulum man nose trimming	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IC	biological process
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0044322	endoplasmic reticulum qua lity control compartment	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005789	endoplasmic reticulum mem brane	IDA	cellular component
GO:0030176	integral component of end oplasmic reticulum membra ne	IDA	cellular component
GO:0000209	protein polyubiquitinatio n	IDA	biological process
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0036513	Derlin-1 retrotranslocati on complex	IDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030968	endoplasmic reticulum unf olded protein response	IMP	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IMP	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IMP	biological process
GO:0038023	signaling receptor activi ty	IPI	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IMP	molecular function
GO:0016021	integral component of mem brane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0004842	ubiquitin-protein transfe rase activity	IMP	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

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Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28606200	Cryptorchi dism			Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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