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Aliases for AFTPH Gene

Aliases for AFTPH Gene

  • Aftiphilin 2 3 3 5
  • 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. Gene Ontology (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

Additional gene information for AFTPH Gene

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

Genomics for AFTPH Gene

GeneHancer (GH) Regulatory Elements for AFTPH Gene

Promoters and enhancers for AFTPH Gene
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
GH02J064522 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 659.8 +0.5 475 4.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZBTB7B AFTPH LOC101927402 MIR4434
GH02J064635 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.8 +123.7 123693 24.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 PPARGC1A SERTAD2 VPS54 AFTPH LINC02576 ENSG00000251775 LOC105374775 RPS10P9
GH02J065429 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 +907.3 907274 4 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SPRED2 ENSG00000204929 LOC105374780 AFTPH SERTAD2 SLC1A4 GC02P065427
GH02J065434 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 20.3 +912.6 912638 3.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 ENSG00000204929 LOC105374780 AFTPH SERTAD2 GC02P065427
GH02J065126 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +605.9 605918 8.2 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B RAB1A CEP68 AFTPH LINC02576 ACTR2 SERTAD2 GC02P065109
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AFTPH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AFTPH gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F-2

Genomic Locations for AFTPH Gene

Genomic Locations for AFTPH Gene
chr2:64,524,305-64,593,005
(GRCh38/hg38)
Size:
68,701 bases
Orientation:
Plus strand
chr2:64,751,439-64,820,139
(GRCh37/hg19)
Size:
68,701 bases
Orientation:
Plus strand

Genomic View for AFTPH Gene

Genes around AFTPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFTPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    936 amino acids
    Molecular mass:
    102113 Da
    Quaternary structure:
    • Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain.
    SequenceCaution:
    • Sequence=AAH22247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH22247.1; Type=Frameshift; Positions=918; Evidence={ECO:0000305}; Sequence=BAB13930.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14949.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AFTPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFTPH Gene

Post-translational modifications for AFTPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AFTPH Gene

Domains & Families for AFTPH Gene

Gene Families for AFTPH Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • 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).
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

Function for AFTPH Gene

Molecular function for AFTPH Gene

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

Phenotypes From GWAS Catalog for AFTPH Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFTPH

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFTPH gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AFTPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA 15758025
GO:0030121 AP-1 adaptor complex IDA 15758025
genes like me logo Genes that share ontologies with AFTPH: view

Pathways & Interactions 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 --
GO:0046907 intracellular transport IBA --
genes like me logo Genes that share ontologies with AFTPH: view

No data available for Pathways by source and SIGNOR curated interactions for AFTPH Gene

Drugs & Compounds for AFTPH Gene

No Compound Related Data Available

Transcripts for AFTPH Gene

mRNA/cDNA for AFTPH Gene

Unigene Clusters for AFTPH Gene

Aftiphilin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFTPH

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AFTPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AFTPH Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.8) and Blymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AFTPH Gene



Protein tissue co-expression partners for AFTPH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AFTPH Gene:

AFTPH

SOURCE GeneReport for Unigene cluster for AFTPH Gene:

Hs.655167

Evidence on tissue expression from TISSUES for AFTPH Gene

  • Nervous system(4.7)
  • Intestine(4.3)
  • Lung(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with AFTPH: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AFTPH 34 33
  • 92.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AFTPH 34 33
  • 91.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aftph 16 34 33
  • 85.25 (n)
rat
(Rattus norvegicus)
Mammalia Aftph 33
  • 83.6 (n)
oppossum
(Monodelphis domestica)
Mammalia AFTPH 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFTPH 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFTPH 34 33
  • 72.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFTPH 34
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33172 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14898 33
zebrafish
(Danio rerio)
Actinopterygii aftpha 34 33
  • 51.92 (n)
OneToMany
aftphb 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y45G5AM.9 34
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToOne
Species where no ortholog for AFTPH was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AFTPH: view image

Paralogs for AFTPH Gene

(1) SIMAP similar genes for AFTPH Gene using alignment to 2 proteins:

  • AFTIN_HUMAN
  • B8ZZI9_HUMAN
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 Variation AA Info Type
rs1000019309 -- 64,530,083(+) G/C intron_variant
rs1000053713 -- 64,580,532(+) T/C intron_variant
rs1000062885 -- 64,560,071(+) C/G intron_variant
rs1000101717 -- 64,525,598(+) T/G intron_variant
rs1000113001 -- 64,526,007(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv834245 CNV gain 17160897
nsv820060 CNV loss 19587683
nsv7313 OTHER inversion 18451855
nsv582127 CNV gain 21841781
nsv472161 CNV novel sequence insertion 20440878
nsv2756 CNV deletion 18451855
nsv2754 CNV insertion 18451855
nsv1006553 CNV gain 25217958
esv3405914 CNV insertion 20981092
esv3305336 CNV mobile element insertion 20981092

Variation tolerance for AFTPH Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.04; 84.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AFTPH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFTPH

SNP Genotyping and Copy Number Assay Products

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

Disorders for AFTPH Gene

Additional Disease Information for AFTPH

No disorders were found for AFTPH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AFTPH Gene

Publications for AFTPH Gene

  1. Definition of the consensus motif recognized by gamma-adaptin ear domains. (PMID: 14665628) Mattera R … Bonifacino JS (The Journal of biological chemistry 2004) 2 3 4 22 58
  2. The aftiphilin/p200/gamma-synergin complex. (PMID: 15758025) Hirst J … Robinson MS (Molecular biology of the cell 2005) 2 3 22 58
  3. Aftiphilin is a component of the clathrin machinery in neurons. (PMID: 15811338) Burman JL … McPherson PS (FEBS letters 2005) 2 3 22 58
  4. Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. (PMID: 18815278) Lui-Roberts WW … Cutler DF (Molecular biology of the cell 2008) 3 22 58
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58

Products for AFTPH Gene

Sources for AFTPH Gene

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