AFTPH Gene (Protein Coding)

Aftiphilin

GC02P064524
GIFtS:
35
See more...

Aliases for AFTPH Gene

Aliases for AFTPH Gene

  • Aftiphilin 2 3 4 5
  • Nbla10388 2 3
  • Aftiphilin Protein 3
  • MGC33965 2
  • FLJ20080 2
  • FLJ23793 2
  • AFTPH 5
  • 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. Diseases associated with AFTPH include Retinitis Pigmentosa 28. Gene Ontology (GO) annotations related to this gene include clathrin binding. An important paralog of this gene is CLBA1.

UniProtKB/Swiss-Prot Summary for AFTPH Gene

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 , Rfam classification and piRNA Summary for AFTPH Gene

Genomics for AFTPH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 CraniofacialAtlas 268.3 +1.0 996 5.8 CHD2 TBP MXD4 SIX5 NR2C1 MNT SMAD5 ETS1 MBD2 ZNF217 AFTPH MIR4434 VPS54 SERTAD2 AFTPH-DT LOC105374773
GH02J064635 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.8 +123.7 123693 24.5 CHD2 TBP ZBTB10 SP1 MXD4 BCL11A FEZF1 CEBPA SIX5 NR2C1 SERTAD2 VPS54 AFTPH LINC02576 ENSG00000251775 LOC105374775 ENSG00000226756 RPS10P9
GH02J063839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.4 -678.8 -678848 12.1 CHD2 TBP MXD4 ZBTB10 SP1 FEZF1 CEBPA MNT BRCA1 SMAD5 UGP2 VPS54 AFTPH SERTAD2 MDH1 WDPCP ENSG00000225889 HSALNG0015441 lnc-VPS54-7 piR-41245-127
GH02J065126 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.4 +605.9 605859 8.3 TBP SP1 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 SMAD5 RAB1A lnc-RAB1A-5 CEP68 AFTPH SERTAD2 LINC02576 ACTR2 HSALNG0015525
GH02J063587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 20.1 -934.8 -934829 6.2 CHD2 TBP ZBTB10 MXD4 SP1 BCL11A FEZF1 CEBPA SIX5 NR2C1 MDH1 WDPCP VPS54 AFTPH HSALNG0015434 lnc-VPS54-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFTPH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFTPH

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

Latest Assembly
chr2:64,524,305-64,593,005
(GRCh38/hg38)
Size:
68,701 bases
Orientation:
Plus strand

Previous Assembly
chr2:64,751,462-64,820,139
(GRCh37/hg19 by Entrez Gene)
Size:
68,678 bases
Orientation:
Plus strand

chr2:64,751,465-64,820,139
(GRCh37/hg19 by Ensembl)
Size:
68,675 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 Structure • Gene Density

RefSeq DNA sequence for AFTPH Gene

Proteins for AFTPH Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH22247.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13930.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14949.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: May be due to intron retention.

    Alternative splice isoforms for AFTPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFTPH Gene

Protein Expression for AFTPH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AFTPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AFTPH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AFTPH Gene

Domains & Families for AFTPH Gene

Gene Families for AFTPH Gene

HGNC:
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:
  • Aftiphilin (AFTIN_HUMAN)

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

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 IBA,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 Models for research

Inhibitory RNAs for research

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

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
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • 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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
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

PathCards logo

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 21873635
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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for AFTPH Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for AFTPH Gene

8 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

Expression for AFTPH Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AFTPH Gene

mRNA expression in normal human tissues for AFTPH Gene
mRNA expression by GTEx for AFTPH GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AFTPH 30 31
  • 92.67 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AFTPH 30 31
  • 91.82 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Aftph 30 17 31
  • 85.25 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aftph 30
  • 83.6 (n)
Oppossum
(Monodelphis domestica)
 Mammalia AFTPH 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AFTPH 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AFTPH 30 31
  • 72.23 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AFTPH 31
  • 52 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.33172 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.14898 30
Zebrafish
(Danio rerio)
 Actinopterygii aftpha 30 31
  • 51.92 (n)
 OneToMany
aftphb 31
  • 30 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea Y45G5AM.9 31
  • 26 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 25 (a)
 OneToOne
Species where no ortholog for AFTPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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

Variants for AFTPH Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AFTPH Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs35986567 - p.Asp233Gly
rs3770739 - p.Asn550Ser
rs3770740 - p.Glu301Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AFTPH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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 Assays for research

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

Disorders for AFTPH Gene

MalaCards: The human disease database

(1) MalaCards diseases for AFTPH Gene - From: COP

Disorder Aliases PubMed IDs
retinitis pigmentosa 28
  • rp28
- elite association - COSMIC cancer census association via MalaCards
Search AFTPH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AFTPH

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AFTPH: view

No data available for 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 23
  2. Aftiphilin is a component of the clathrin machinery in neurons. (PMID: 15811338) Burman JL … McPherson PS (FEBS letters 2005) 2 3 23
  3. The aftiphilin/p200/gamma-synergin complex. (PMID: 15758025) Hirst J … Robinson MS (Molecular biology of the cell 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 WW … Cutler DF (Molecular biology of the cell 2008) 3 23
  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

ExternalLinks

View latest publications for AFTPH gene in Mastermind

Products for AFTPH Gene

Sources for AFTPH Gene