Aliases for AFTPH Gene
External Ids for AFTPH Gene
- HGNC: 25951
- Entrez Gene: 54812
- Ensembl: ENSG00000119844
- UniProtKB: Q6ULP2
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.
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
Regulatory Elements for AFTPH Gene
Enhancers for AFTPH Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AFTPH on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the AFTPH gene promoter:
Regulatory Element Products
Genomic Location for AFTPH Gene
- Chromosome:
- 2
- 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
Genes around AFTPH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p14 by Ensembl
- 2p14 by Entrez Gene
- 2p14 by HGNC
AFTPH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for AFTPH Gene
Post-translational modifications for AFTPH Gene
Other Protein References for AFTPH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AFTPH
- Invitrogen Antibodies for AFTPH
- antibodies-online Antibodies for AFTPH: See all 19
- GeneTex AFTPH antibody for AFTPH
Protein Products
-
OriGene Purified Proteins for AFTPH
- Search Origene for MassSpec and Protein Over-expression Lysates for AFTPH
- Origene Custom Protein Services for AFTPH
- Search GeneTex for Proteins for AFTPH
Assay Products
- antibodies-online Kits for AFTPH: See all 1
No data available for DME Specific Peptides for AFTPH Gene
Domains & Families 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
Q6ULP2UniProtKB/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).
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030276 | clathrin binding | IDA | 15758025 |
Phenotypes for AFTPH Gene
- GenomeRNAi human phenotypes for AFTPH:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AFTPH
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AFTPH gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFTPH gene
- Search ViGene Biosciences for AFTPH
CRISPR Products
-
OriGene CRISPR knockouts for AFTPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFTPH
- GenScript: Design CRISPR guide RNA sequences for AFTPH
miRNA for AFTPH Gene
- miRTarBase miRNAs that target AFTPH
miRNA Products
- Search ViGene Biosciences for AFTPH
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for AFTPH
- Browse OriGene Inhibitory RNA Products For AFTPH
-
ViGene Biosciences ready-to-package AAV shRNAs for AFTPH gene
Clone Products
- Sino Biological Human cDNA Clone for AFTPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AFTPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFTPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AFTPH
-
ViGene Biosciences adenoviral particle packaged cDNA for AFTPH gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AFTPH gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFTPH gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IDA | -- |
| GO:0005829 | cytosol | IDA | 15758025 |
Pathways & Interactions for AFTPH Gene
No Data Available
Interacting Proteins for AFTPH Gene
Selected Interacting proteins:
ENSP00000238855
Q6ULP2-AFTIN_HUMAN
for AFTPH Gene via
STRING
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for AFTPH Gene
Transcripts for AFTPH Gene
mRNA/cDNA for AFTPH Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (291) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for AFTPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFTPH
- GenScript: Design CRISPR guide RNA sequences for AFTPH
miRNA Products
- Search ViGene Biosciences for AFTPH
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for AFTPH
- Browse OriGene Inhibitory RNA Products For AFTPH
-
ViGene Biosciences ready-to-package AAV shRNAs for AFTPH gene
Clone Products
- Sino Biological Human cDNA Clone for AFTPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AFTPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFTPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
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| SP4: | - | ||||||||||||||||||||||||||||||||||||
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| SP6: |
Expression for AFTPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AFTPH Gene:
AFTPHSOURCE GeneReport for Unigene cluster for AFTPH Gene:
Hs.655167Evidence on tissue expression from TISSUES for AFTPH Gene
- Nervous system(4.7)
- Intestine(4.3)
- Lung(4.3)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for AFTPH
-
OriGene qPCR primer pairs and template standards for AFTPH
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AFTPH 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | AFTPH 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | AFTPH 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Aftph 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aftph 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AFTPH 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AFTPH 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AFTPH 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AFTPH 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.14898 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33172 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aftpha 34 35 |
|
||
| aftphb 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | Y45G5AM.9 35 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for AFTPH Gene
(1) SIMAP similar genes for AFTPH Gene using alignment to 2 proteins:
No data available for Paralogs for AFTPH Gene
Variants for AFTPH Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000019309 | -- | 64,530,083(+) | CCTGA(C/G)AGGTG | intron-variant | |
| rs1000053713 | -- | 64,580,532(+) | TTTGC(C/T)GTTGT | intron-variant | |
| rs1000062885 | -- | 64,560,071(+) | TTAAC(C/G)ATCAC | intron-variant | |
| rs1000101717 | -- | 64,525,598(+) | GGATT(G/T)TATTT | intron-variant, downstream-variant-500B, upstream-variant-2KB | |
| rs1000113001 | -- | 64,526,007(+) | TACAC(A/G)TATAT | intron-variant, downstream-variant-500B, upstream-variant-2KB |
| 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 |
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)
Relevant External Links for AFTPH Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AFTPH
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFTPH Gene
Disorders for AFTPH Gene
Relevant External Links 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
- 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 22 64
- The aftiphilin/p200/gamma-synergin complex. (PMID: 15758025) Hirst J. … Robinson M.S. (Mol. Biol. Cell 2005) 2 3 22 64
- Aftiphilin is a component of the clathrin machinery in neurons. (PMID: 15811338) Burman J.L. … McPherson P.S. (FEBS Lett. 2005) 2 3 22 64
- 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 22 64
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
Products for AFTPH Gene
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- OriGene Purified Proteins for AFTPH
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- OriGene qPCR primer pairs and template standards for AFTPH
- OriGene qPCR primer pairs for AFTPH
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- GenScript: Next-day shipping cDNA ORF clone for AFTPH in any vector
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- GenScript: Design CRISPR guide RNA sequences for AFTPH
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for AFTPH
- Novus Biologicals proteins and lysates for AFTPH
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for AFTPH: See all 19
- antibodies-online Kits for AFTPH: See all 1
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex AFTPH antibody for AFTPH
- Search GeneTex for Proteins for AFTPH
- ViGene Biosciences adenoviral particle packaged cDNA for AFTPH gene
- ViGene Biosciences lentiviral particle packaged cDNA for AFTPH gene
- ViGene Biosciences ready-to-package AAV shRNAs for AFTPH gene
- Search ViGene Biosciences for AFTPH
- Horizon Cell Lines for AFTPH
- Cyagen custom Knockout/knockin (KOKI) mouse models for AFTPH
- VectorBuilder custom plasmid, inducible vectors for AFTPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFTPH
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AFTPH Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
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- (122) diseasecard
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- (124) Orphanet
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer