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AP5M1 (Adaptor Related Protein Complex 5 Subunit Mu 1) is a Protein Coding gene. Diseases associated with AP5M1 include Nasopharyngeal Carcinoma and Hemochromatosis, Type 5.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH14J057264 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 606.9 | -0.9 | -941 | 6.9 | HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 IKZF1 NFKBIZ ZNF692 RCOR2 | AP5M1 EXOC5 HSALNG0101564 NAA30 lnc-CCDC198-3 OTX2 | |
GH14J057382 | Enhancer | 0.8 | Ensembl ENCODE | 16.1 | +113.5 | 113486 | 3.6 | ZNF512 PRDM1 TCF7 CEBPB FOS FOSL1 BHLHE40 USF2 JUND ZNF366 | AP5M1 EXOC5 NAA30 lnc-EXOC5-2 | |
GH14J057290 | Enhancer | 0.6 | UCNEbase ENCODE | 11.7 | +21.8 | 21765 | 1.1 | EZH2 | AP5M1 EXOC5 piR-58541 piR-61614-048 NAA30 | |
GH14J057292 | Enhancer | 1.1 | UCNEbase Ensembl ENCODE | 5.9 | +23.4 | 23386 | 1 | SOX13 TCF7 EZH2 CREM NFIL3 ZNF3 KDM1A HLF CEBPB PKNOX1 | AP5M1 piR-58541 piR-61614-048 NAA30 | |
GH14J057259 | Enhancer | 0.8 | FANTOM5 Ensembl | 5.4 | -9.4 | -9372 | 0.9 | PRDM1 FOSL1 NCOR1 ZNF18 DPF2 ATF3 PRDM10 TCF12 ZEB2 FOS | NAA30 AP5M1 EXOC5 lnc-CCDC198-3 OTX2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IBA,IDA | 22022230 |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | IBA,IDA | 22022230 |
Symbol | External ID(s) | Details |
---|---|---|
AP5B1 | ||
AP5S1 | ||
DCAF4 | ||
ENSG00000272822 | ||
GTF3C3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0016197 | endosomal transport | IBA,IMP | 22022230 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AP5M1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AP5M1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AP5M1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ap5m1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ap5m1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AP5M1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AP5M1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MUDENG 30 |
|
||
AP5M1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | AP5M1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap5m1 30 |
|
||
Str.20418 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ap5m1 30 31 |
|
OneToOne | |
Dr.13330 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10137359 | - | p.Gly226Arg | |||
rs10140245 | - | p.Glu379Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2429208 | CNV | insertion | 19546169 |
nsv1046422 | CNV | gain | 25217958 |
nsv832806 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nasopharyngeal carcinoma |
|
|
hemochromatosis, type 5 |
|
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buruli ulcer |
|
|
hyperpigmentation with or without hypopigmentation, familial progressive |
|
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mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma |
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