Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AFTPH Gene

Aliases for AFTPH Gene

  • Aftiphilin 2 3
  • Aftiphilin Protein 3
  • Nbla10388 3
  • AFTH 4

External Ids for AFTPH Gene

Previous GeneCards Identifiers for AFTPH Gene

  • GC02P064604
  • GC02P064751
  • GC02P064485

Summaries for AFTPH Gene

GeneCards Summary for AFTPH Gene

AFTPH (Aftiphilin) is a Protein Coding gene. GO annotations related to this gene include clathrin binding.

UniProtKB/Swiss-Prot for AFTPH Gene

  • May play a role in membrane trafficking

Gene Wiki entry for AFTPH Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFTPH Gene

Genomics for AFTPH Gene

Regulatory Elements for AFTPH Gene

Genomic Location for AFTPH Gene

Start:
64,524,305 bp from pter
End:
64,593,005 bp from pter
Size:
68,701 bases
Orientation:
Plus strand

Genomic View for AFTPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFTPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFTPH Gene

Proteins for AFTPH Gene

  • Protein details for AFTPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ULP2-AFTIN_HUMAN
    Recommended name:
    Aftiphilin
    Protein Accession:
    Q6ULP2
    Secondary Accessions:
    • D6W5E9
    • Q6ZM66
    • Q86VW3
    • Q8TCF3
    • Q9H7E3
    • Q9HAB9
    • Q9NXS4

    Protein attributes for AFTPH Gene

    Size:
    937 amino acids
    Molecular mass:
    102200 Da
    Quaternary structure:
    • Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain.
    SequenceCaution:
    • Sequence=AAH22247.1; Type=Frameshift; Positions=919; Evidence={ECO:0000305}; Sequence=BAB13930.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14949.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AFTPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFTPH Gene

Proteomics data for AFTPH Gene at MOPED

Post-translational modifications for AFTPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AFTPH Gene

No data available for DME Specific Peptides for AFTPH Gene

Domains for AFTPH Gene

Protein Domains for AFTPH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AFTPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ULP2

UniProtKB/Swiss-Prot:

AFTIN_HUMAN :
  • Q6ULP2
Domain:
  • The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself (By similarity).
genes like me logo Genes that share domains with AFTPH: view

No data available for Gene Families for AFTPH Gene

Function for AFTPH Gene

Molecular function for AFTPH Gene

UniProtKB/Swiss-Prot Function: May play a role in membrane trafficking

Gene Ontology (GO) - Molecular Function for AFTPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030276 clathrin binding IDA 15758025
genes like me logo Genes that share ontologies with AFTPH: view

miRNA for AFTPH Gene

miRTarBase miRNAs that target AFTPH

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AFTPH Gene

Localization for AFTPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFTPH Gene

Cytoplasm. Note=Colocalizes with AP1G1 and clathrin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AFTPH Gene COMPARTMENTS Subcellular localization image for AFTPH gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 4

Gene Ontology (GO) - Cellular Components for AFTPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA 15758025
genes like me logo Genes that share ontologies with AFTPH: view

Pathways for AFTPH Gene

SuperPathways for AFTPH Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFTPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AFTPH: view

No data available for Pathways by source for AFTPH Gene

Transcripts for AFTPH Gene

Unigene Clusters for AFTPH Gene

Aftiphilin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AFTPH Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for AFTPH Gene

GeneLoc Exon Structure for
AFTPH
ECgene alternative splicing isoforms for
AFTPH

Expression for AFTPH Gene

mRNA expression in normal human tissues for AFTPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFTPH Gene

SOURCE GeneReport for Unigene cluster for AFTPH Gene Hs.655167

genes like me logo Genes that share expressions with AFTPH: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AFTPH Gene

Orthologs for AFTPH Gene

This gene was present in the common ancestor of animals.

Orthologs for AFTPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFTPH 35
  • 99.54 (n)
  • 99.15 (a)
AFTPH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AFTPH 35
  • 91.82 (n)
  • 88.48 (a)
AFTPH 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFTPH 35
  • 92.67 (n)
  • 89.38 (a)
AFTPH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aftph 35
  • 85.25 (n)
  • 79.05 (a)
Aftph 16
Aftph 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFTPH 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFTPH 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aftph 35
  • 83.6 (n)
  • 78.58 (a)
chicken
(Gallus gallus)
Aves AFTPH 35
  • 72.23 (n)
  • 62.83 (a)
AFTPH 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFTPH 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33172 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14898 35
zebrafish
(Danio rerio)
Actinopterygii aftpha 35
  • 51.92 (n)
  • 46.51 (a)
aftpha 36
  • 41 (a)
OneToMany
aftphb 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y45G5AM.9 36
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToOne
Species with no ortholog for AFTPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AFTPH Gene

ENSEMBL:
Gene Tree for AFTPH (if available)
TreeFam:
Gene Tree for AFTPH (if available)

Paralogs for AFTPH Gene

Selected SIMAP similar genes for AFTPH Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AFTPH: view

No data available for Paralogs for AFTPH Gene

Variants for AFTPH Gene

Sequence variations from dbSNP and Humsavar for AFTPH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs13304 -- 64,552,951(+) AGGAG(A/G)CAATA reference, missense, nc-transcript-variant
rs756234 -- 64,532,985(-) CATTA(C/T)GTAAG intron-variant
rs873171 -- 64,539,844(-) GACTT(C/T)CTAAC intron-variant
rs918291 -- 64,552,265(+) GGAAA(A/C/G)CAATA reference, missense, nc-transcript-variant
rs1001291 -- 64,580,160(-) ACATT(A/C)CTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFTPH Gene

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv834245 CNV Gain 17160897
nsv2754 CNV Insertion 18451855
esv269614 CNV Insertion 20981092
nsv820060 CNV Loss 19587683
nsv2756 CNV Loss 18451855

Relevant External Links for AFTPH Gene

HapMap Linkage Disequilibrium report
AFTPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFTPH Gene

Disorders for AFTPH Gene

Relevant External Links for AFTPH

Genetic Association Database (GAD)
AFTPH
genes like me logo Genes that share disorders with AFTPH: view

No data available for UniProtKB/Swiss-Prot for AFTPH Gene

Publications for AFTPH Gene

  1. Definition of the consensus motif recognized by gamma-adaptin ear domains. (PMID: 14665628) Mattera R. … Bonifacino J.S. (J. Biol. Chem. 2004) 2 3 4 23
  2. The aftiphilin/p200/gamma-synergin complex. (PMID: 15758025) Hirst J. … Robinson M.S. (Mol. Biol. Cell 2005) 2 3 23
  3. Aftiphilin is a component of the clathrin machinery in neurons. (PMID: 15811338) Burman J.L. … McPherson P.S. (FEBS Lett. 2005) 2 3 23
  4. Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. (PMID: 18815278) Lui-Roberts W.W. … Cutler D.F. (Mol. Biol. Cell 2008) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for AFTPH Gene

Sources for AFTPH Gene

Back to Top

Content