AFTPH Gene
protein-coding GIFtS: 47
GCID: GC02P064751
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|
aftiphilin
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Aliases
for AFTPH gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aftiphilin1 | | MGC339651 | | Nbla103881 2 | | Aftiphilin Protein2 | | FLJ200801 | | AFTH3 | | FLJ237931 | | |
Export aliases for AFTPH gene to outside databasesPrevious GC identifers: GC02P064604 GC02P064485 |
Summaries
for AFTPH gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: AFTIN_HUMAN, Q6ULP2Function: May play a role in membrane trafficking
Gene Wiki entry for AFTPH
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AFTPH gene promoter:
AP-1 ATF-2 E2F-2 c-Jun
Other transcription factors
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: 2p14AFTPH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P064751: view genomic region
(about GC identifiers)
Start:
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64,751,439 bp from pter |
End:
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64,820,139 bp from pter |
Size:
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68,701 bases |
Orientation:
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plus strand |
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Proteins
for AFTPH gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9NXS4Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6ULP2
AFTPH Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001002243.1 NP_060127.3 NP_982261.2
ENSEMBL proteins: ENSP00000238856 ENSP00000387071 ENSP00000386913 ENSP00000397726 ENSP00000238855
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
AFTPH for ontologies About GeneDecksing
AFTPH Antibody Products:
Assay Products for AFTPH: |
Protein
Domains /
Families
for AFTPH gene(According to 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, Q6ULP2Domain: The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 throughhydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned bythe acidic context surrounding the motif and the properties of the second residue of the motif itself (By similarity) |
Function
for AFTPH gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AFTIN_HUMAN, Q6ULP2Function: May play a role in membrane trafficking
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): AFTPH (NM_001002243) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AFTPH | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFTPH |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFTPH |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
AFTPH for ontologies About GeneDecksing
|
Pathways & Interactions
for AFTPH gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015031 | protein transport |
IEA | -- |
AFTPH for ontologies About GeneDecksing
|
Drugs & Compounds
for AFTPH gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AFTPH
Search CenterWatch for drugs/clinical trials and news about AFTPH / AFTIN
|
Transcripts
for AFTPH gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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: AL8339627 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): AFTPH (NM_001002243) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AFTPH | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFTPH |
Additional cDNA 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): AA890197 BM967059 AA078866 AA470446 CB159690 CA405426 AA767455 BU684171 BQ708560 AA463921 AI219655 AL833962 BF055354 CB159303 AI269757 CA444731 NM_017657 AA253013 AA078964 AA683506 AI740735 AW051963 BM668634 AI880418
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 |
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AFTPH
|
Expression
for AFTPH gene
(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
CGAP TAG: CCCAAGGTCT
About this image
See AFTPH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AFTPH
SOURCE GeneReport for Unigene cluster: Hs.655167
SABiosciences Custom PCR Arrays for AFTPH
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AFTPH
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AFTPH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AFTPH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFTPH | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFTPH |
Orthologs
for AFTPH gene
(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 7/16 species (see all 16) About this table
ENSEMBL Gene Tree for AFTPH (if available)
TreeFam Gene Tree for AFTPH (if available) |
Paralogs
for AFTPH gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for AFTPH gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AFTPH (64751439 - 64820139 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for AFTPH
1 CNV: 58996 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for AFTPH gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AFTPH for disorders About GeneDecksing
1  disease for AFTPH: About MalaCardsneuronitis
Export disorders for AFTPH gene to outside databases
|
Publications
for AFTPH gene (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 19):
(articles sorted by number of sources associating them with AFTPH) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Definition of the consensus motif recognized by gamma-adaptin ear domains. (PubMed id 14665628)1, 2, 3, 9 Mattera R.... Bonifacino J.S. (2004)
- Aftiphilin is a component of the clathrin machinery in neurons. (PubMed id 15811338)1, 3, 9 Burman J.L....McPherson P.S. (2005)
- The aftiphilin/p200/gamma-synergin complex. (PubMed id 15758025)1, 3, 9 Hirst J....Robinson M.S. (2005)
- 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)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
|
External Searches for AFTPH gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AFTPH gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AFTPH gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AFTPH gene(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
|
| Name | Description |
| PharmGKB entry for AFTPH | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AFTPH gene:
Search GeneIP for patents involving AFTPH
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AFTPH gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AFTPH | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AFTPH | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AFTPH | | | OriGene Protein Over-expression Lysate for AFTPH | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AFTPH | | OriGene 3'-UTR Clone for AFTPH | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFTPH | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AFTPH | | OriGene Custom Protein Services for AFTPH | | | OriGene Custom Immunoassay Development | | |
| |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AFTPH | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFTPH | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFTPH | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AFTPH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFTPH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AFTPH |
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| | | | Search Tocris compounds for AFTPH |
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 | | | AFTPH Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFTPH |
|  |  |  | | | | ThermoFisher Antibody for AFTPH |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFTPH |
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