AFTPH (aftiphilin)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 54812
• Gene name: Aftiphilin
• Gene symbol: AFTPH
• Synonyms (NCBI Gene): Nbla10388
• Chromosome: 2
• Chromosome location: 2p14

miRNA Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016058	hsa-miR-374b-5p	Sequencing	20371350
MIRT025206	hsa-miR-181a-5p	Sequencing	20371350
MIRT031032	hsa-miR-21-5p	Microarray	18591254
MIRT159677	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT159678	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT771527	hsa-miR-1207-3p	CLIP-seq
MIRT771528	hsa-miR-3065-5p	CLIP-seq
MIRT771529	hsa-miR-3148	CLIP-seq
MIRT771530	hsa-miR-3202	CLIP-seq
MIRT771531	hsa-miR-3688-3p	CLIP-seq
MIRT771532	hsa-miR-4539	CLIP-seq
MIRT771533	hsa-miR-4747-5p	CLIP-seq
MIRT771534	hsa-miR-1208	CLIP-seq
MIRT771535	hsa-miR-1324	CLIP-seq
MIRT771536	hsa-miR-216b	CLIP-seq
MIRT771537	hsa-miR-27a	CLIP-seq
MIRT771538	hsa-miR-27b	CLIP-seq
MIRT771529	hsa-miR-3148	CLIP-seq
MIRT771539	hsa-miR-3167	CLIP-seq
MIRT771540	hsa-miR-3179	CLIP-seq
MIRT771530	hsa-miR-3202	CLIP-seq
MIRT771531	hsa-miR-3688-3p	CLIP-seq
MIRT771541	hsa-miR-3908	CLIP-seq
MIRT771542	hsa-miR-3942-5p	CLIP-seq
MIRT771543	hsa-miR-4420	CLIP-seq
MIRT771544	hsa-miR-4450	CLIP-seq
MIRT771545	hsa-miR-4699-5p	CLIP-seq
MIRT771546	hsa-miR-4703-5p	CLIP-seq
MIRT771533	hsa-miR-4747-5p	CLIP-seq
MIRT771547	hsa-miR-4766-3p	CLIP-seq
MIRT771548	hsa-miR-5096	CLIP-seq
MIRT771549	hsa-miR-513a-5p	CLIP-seq
MIRT771550	hsa-miR-607	CLIP-seq
MIRT771551	hsa-miR-616	CLIP-seq
MIRT771552	hsa-miR-876-5p	CLIP-seq
MIRT2168460	hsa-miR-181a	CLIP-seq
MIRT2168461	hsa-miR-181b	CLIP-seq
MIRT2168462	hsa-miR-181c	CLIP-seq
MIRT2168463	hsa-miR-181d	CLIP-seq
MIRT2168464	hsa-miR-3617	CLIP-seq
MIRT771541	hsa-miR-3908	CLIP-seq
MIRT771542	hsa-miR-3942-5p	CLIP-seq
MIRT2168465	hsa-miR-4262	CLIP-seq
MIRT771546	hsa-miR-4703-5p	CLIP-seq
MIRT771547	hsa-miR-4766-3p	CLIP-seq
MIRT2168466	hsa-miR-548c-3p	CLIP-seq
MIRT771551	hsa-miR-616	CLIP-seq
MIRT2168467	hsa-miR-641	CLIP-seq
MIRT2168468	hsa-miR-802	CLIP-seq
MIRT2471054	hsa-miR-1273d	CLIP-seq
MIRT2471054	hsa-miR-1273d	CLIP-seq
MIRT2674671	hsa-miR-1276	CLIP-seq
MIRT771536	hsa-miR-216b	CLIP-seq
MIRT2674672	hsa-miR-3120-3p	CLIP-seq
MIRT2674673	hsa-miR-3200-3p	CLIP-seq
MIRT2674674	hsa-miR-3660	CLIP-seq
MIRT771542	hsa-miR-3942-5p	CLIP-seq
MIRT2674675	hsa-miR-3974	CLIP-seq
MIRT2674676	hsa-miR-4256	CLIP-seq
MIRT2674677	hsa-miR-4526	CLIP-seq
MIRT771546	hsa-miR-4703-5p	CLIP-seq
MIRT2674678	hsa-miR-4731-3p	CLIP-seq
MIRT2674679	hsa-miR-4753-3p	CLIP-seq
MIRT2674680	hsa-miR-4801	CLIP-seq
MIRT2674681	hsa-miR-485-3p	CLIP-seq
MIRT2674682	hsa-miR-487a	CLIP-seq
MIRT2674683	hsa-miR-495	CLIP-seq
MIRT2674684	hsa-miR-518a-5p	CLIP-seq
MIRT2674685	hsa-miR-527	CLIP-seq
MIRT2674686	hsa-miR-587	CLIP-seq
MIRT2674687	hsa-miR-593	CLIP-seq
MIRT2674688	hsa-miR-640	CLIP-seq

Gene ontology (GO) Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA	15758025
GO:0015031	Process	Protein transport	IEA
GO:0030121	Component	AP-1 adaptor complex	IBA
GO:0030121	Component	AP-1 adaptor complex	IDA	15758025
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030276	Function	Clathrin binding	IBA
GO:0030276	Function	Clathrin binding	IDA	15758025
GO:0030276	Function	Clathrin binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IBA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0046907	Process	Intracellular transport	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 619628
• HGNC: 25951
• e!Ensembl: ENSG00000119844

Protein

• UniProt ID: Q6ULP2
• Protein name: Aftiphilin
• Protein function: Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endos
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15045	Clathrin_bdg	698 → 769	Clathrin-binding box of Aftiphilin, vesicle trafficking	Family

• Sequence:

  MEPDIIRMYSSSPPPLDNGAEDDDDDEFGEFGGFSEVSPSGVGFVDFDTPDYTRPKEEFV
  PSNHFMPIHEFSENVDSLTSFKSIKNGNDKDITAELSAPVKGQSDVLLSTTSKEIISSEM
  LATSIDGMERPGNLNKVVEQRQNVGTLESFSPGDFRTNMNVVHQNKQLESCNGEKPPCLE
  ILTNGFAVLETVNPQGTDDLDNVADSKGRKPLSTHSTEYNLDSVPSPAEEFADFATFSKK
  ERIQLEEIECAVLNDREALTIRENNKINRVNELNSVKEVALGRSLDNKGDTDGEDQVCVS
  EISIVTNRGFSVEKQGLPTLQQDEFLQSGVQSKAWSLVDSADNSEAIRREQCKTEEKLDL
  LTSKCAHLCMDSVKTSDDEVGSPKEESRKFTNFQSPNIDPTEENDLDDSLSVKNGDSSND
  FVTCNDINEDDFGDFGDFGSASGSTPPFVTGTQDSMSDATFEESSEHFPHFSEPGDDFGE
  FGDINAVSCQEETILTKSDLKQTSDNLSEECQLARKSSGTGTEPVAKLKNGQEGEIGHFD
  SVPNIQDDCNGFQDSDDFADFSSAGPSQVVDWNAFEDEQKDSCSWAAFGDQQATESHHRK
  EAWQSHRTDENIDTPGTPKTHSVPSATSKGAVASGHLQESATSVQTALLNRLERIFEACF
  PSILVPDAEEEVTSLKHLLETSTLPIKTREALPESGELLDVWTELQDIHDAHGLRYQWGG
  SHSNKKLLSSLGIDTRNILFTGNKKQPVIVPMYAAGLGMLEPTKEPLKPLSAAEKIASIG
  QTATMSPDMNTCTSDQFQESLPPVQFDWSSSGLTNPLDASGGSTLLNLDFFGPVDDSSSS
  SSTTIPGVDPELYELTTSKLEISTSSLKVTDAFARLMSTVEKTSTSTRKPKREEHLSEEA
  IKVIAGLPDLTFMHAKVLMFPATLTPSTSSQEKADG

• Sequence length: 936

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Hepatocellular carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25112884		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25112884		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for AFTPH.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to AFTPH.