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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AFTPH Gene

protein-coding   GIFtS: 49
GCID: GC02P064751

Aftiphilin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
aftiphilin1 2
Nbla103882
Aftiphilin Protein2
AFTH3

External Ids:    HGNC: 259511   Entrez Gene: 548122   Ensembl: ENSG000001198447   UniProtKB: Q6ULP23   

Export aliases for AFTPH gene to outside databases

Previous GC identifers: GC02P064604 GC02P064485


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for AFTPH Gene: 
AFTPH (aftiphilin) is a protein-coding gene. Diseases associated with AFTPH include endotheliitis, and neuronitis. GO annotations related to this gene include clathrin binding.

UniProtKB/Swiss-Prot: AFTIN_HUMAN, Q6ULP2
Function: May play a role in membrane trafficking

Gene Wiki entry for AFTPH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFTPH gene promoter:
         AP-1   ATF-2   E2F-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFTPH promoter sequence
   Search SABiosciences Chromatin IP Primers for AFTPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFTPH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p14   Ensembl cytogenetic band:  2p14   HGNC cytogenetic band: 2p14

AFTPH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFTPH gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P064751:  view genomic region     (about GC identifiers)

Start:
64,751,439 bp from pter      End:
64,820,139 bp from pter
Size:
68,701 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AFTIN_HUMAN, Q6ULP2 (See protein sequence)
Recommended Name: Aftiphilin  
Size: 937 amino acids; 102200 Da
Subunit: Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain
Subcellular location: Cytoplasm. Note=Colocalizes with AP1G1 and clathrin
Sequence caution: Sequence=AAH22247.1; Type=Frameshift; Positions=919; Sequence=BAB13930.1; Type=Erroneous
initiation; Sequence=BAB14949.1; Type=Erroneous initiation;
Secondary accessions: D6W5E9 Q6ZM66 Q86VW3 Q8TCF3 Q9H7E3 Q9HAB9 Q9NXS4
Alternative splicing: 5 isoforms:  Q6ULP2-1   Q6ULP2-2   Q6ULP2-3   Q6ULP2-4   Q6ULP2-5   (May be due to intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AFTPH: NX_Q6ULP2

Explore proteomics data for AFTPH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ULP2

  • AFTPH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AFTPH Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001002243.1  NP_060127.3  NP_982261.2  

    ENSEMBL proteins: 
     ENSP00000238856   ENSP00000387071   ENSP00000386913   ENSP00000397726   ENSP00000238855  

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    Cloud-Clone Corp. Proteins for AFTPH 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol IDA15758025

    AFTPH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: 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)


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AFTIN_HUMAN, Q6ULP2
    Function: May play a role in membrane trafficking

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030276clathrin binding IDA15758025
         
    AFTPH for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidAFTPH 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AFTPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/64 Interacting proteins for AFTPH (Q6ULP22, 3 ENSP000002388554) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE3AQ050862, 3, ENSP000003810454MINT-8276354 I2D: score=2 STRING: ENSP00000381045
    GGA1Q9UJY53, ENSP000003413444I2D: score=1 STRING: ENSP00000341344
    AP1G1O437473, ENSP000003771484I2D: score=1 STRING: ENSP00000377148
    GGA2Q9UJY43, ENSP000003119624I2D: score=1 STRING: ENSP00000311962
    GGA3Q9NZ523, ENSP000002455414I2D: score=1 STRING: ENSP00000245541
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--

    AFTPH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFTPH (AFTIN)

    Search CenterWatch for drugs/clinical trials and news about AFTPH / AFTIN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AFTPH gene (3 alternative transcripts): 
    NM_001002243.2  NM_017657.4  NM_203437.3  

    Unigene Cluster for AFTPH:

    Aftiphilin
    Hs.655167  [show with all ESTs]
    Unigene Representative Sequence: AL833962
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000238856(uc002sda.3 uc002sdb.3) ENST00000498706 ENST00000409933
    ENST00000409183 ENST00000487769 ENST00000422803(uc002sdc.3) ENST00000238855(uc002scz.3)

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate AFTPH (see all 39):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-323-3p hsa-miR-379* hsa-miR-1197 hsa-miR-3653 hsa-miR-1273d hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidAFTPH 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB073356.1 AK000087.1 AK021899.1 AK024658.1 AK222821.1 AL833962.2 AY367088.1 BC022247.1 
    BC047529.1 

    13 DOTS entries:

    DT.422833  DT.100825726  DT.100825717  DT.446217  DT.101957094  DT.100825718  DT.218404  DT.91768438 
    DT.218405  DT.86843088  DT.91768439  DT.95293010  DT.95102278 

    24/291 AceView cDNA sequences (see all 291):

    AA583062 AA683506 T30703 AI567913 BM458244 T33350 AW051963 AA890197 
    NM_203437 AI740735 BC047529 AA402965 CD672132 BF055271 Z44609 AW470052 
    AI269757 CA444731 T33352 AA767455 BM023183 AA236020 CA405426 AA810717 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AFTPH (see all 6)    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for AFTPH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AFTPH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAAGGTCT
    AFTPH Expression
    About this image


    See AFTPH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFTPH

    SOURCE GeneReport for Unigene cluster: Hs.655167
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AFTPH gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aftph1 , 5 aftiphilin1, 5 85.35(n)1
    79.25(a)1
      11 (13.25 cM)5
    2165491  NM_181411.31  NP_852076.11 
     206850845 
    chicken
    (Gallus gallus)
    Aves AFTPH1 aftiphilin 72.11(n)
    62.72(a)
      421277  XM_419346.2  XP_419346.2 
    lizard
    (Anolis carolinensis)
    Reptilia AFTPH6
    aftiphilin
    52(a)
    1 ↔ 1
    1(124047508-124091704)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.331722 Xenopus laevis transcribed sequence with moderate similarity more 83.21(n)    BJ088328.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aftpha1 aftiphilin a 51.63(n)
    46.3(a)
      556043  NM_001145561.1  NP_001139033.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y45G5AM.91 Protein Y45G5AM.9 41.11(n)
    27.44(a)
      178820  NM_071762.4  NP_504163.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AFTPH gene
    1 SIMAP similar gene for AFTPH using alignment to 2 protein entries:     AFTIN_HUMAN (see all proteins):
    Nbla10388

    AFTPH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1450 SNPs in AFTPH are shown (see all 1450)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1885848991,2
    --64749440(+) GCTTAC/TAACAC 3 -- us2k10--------
    rs1423883231,2
    --64749452(+) AAAGGG/TACACA 3 -- us2k10--------
    rs1811736351,2
    --64749459(+) CACAAA/CATCTA 3 -- us2k10--------
    rs2019292841,2
    C--64749504(+) CACAG-/AAAAAA 3 -- us2k10--------
    rs1861454551,2
    --64749509(+) GAAAAA/CAAAAC 3 -- us2k10--------
    rs67522601,2
    C,F,A,H--64749583(+) CTTAGA/GTAATG 3 -- us2k124Minor allele frequency- G:0.48NS EA NA WA 1236
    rs1906213791,2
    --64749595(+) AGTTAC/TGGCCA 3 -- us2k10--------
    rs1840624731,2
    C--64749692(+) AAACAC/TTCAAA 3 -- us2k10--------
    rs1513006991,2
    --64749738(+) GGGCAC/TTGTCT 3 -- us2k10--------
    rs1404764171,2
    --64749747(+) CTTCGG/TAATTA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for AFTPH (64751439 - 64820139 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AFTPH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv269614CNV Insertion20981092
    nsv2754CNV Insertion18451855
    nsv820060CNV Loss19587683
    nsv2756CNV Loss18451855
    nsv834245CNV Gain17160897
    nsv7313OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for AFTPH:    About MalaCards
    endotheliitis    neuronitis


    AFTPH for disorders           About GeneDecksing

    Genetic Association Database (GAD): AFTPH

    Export disorders for AFTPH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AFTPH gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with AFTPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Definition of the consensus motif recognized by gamma-adaptin ear domains. (PubMed id 14665628)1, 2, 3, 9 Mattera R.... Bonifacino J.S. (2004)
    2. Aftiphilin is a component of the clathrin machinery in neurons. (PubMed id 15811338)1, 3, 9 Burman J.L....McPherson P.S. (2005)
    3. The aftiphilin/p200/gamma-synergin complex. (PubMed id 15758025)1, 3, 9 Hirst J....Robinson M.S. (2005)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. (PubMed id 18815278)1, 9 Lui-Roberts W.W....Cutler D.F. (2008)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54812 HGNC: 25951 AceView: AFTIPHILIN Ensembl:ENSG00000119844 euGenes: HUgn54812
    ECgene: AFTPH H-InvDB: AFTPH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AFTPH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
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    Patent Information for AFTPH gene:
    Search GeneIP for patents involving AFTPH

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