Human Gene AFTPH (ENST00000238856.8) from GENCODE V44
  Description: Homo sapiens aftiphilin (AFTPH), transcript variant 2, mRNA. (from RefSeq NM_017657)
Gencode Transcript: ENST00000238856.8
Gencode Gene: ENSG00000119844.17
Transcript (Including UTRs)
   Position: hg38 chr2:64,524,305-64,593,005 Size: 68,701 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr2:64,551,475-64,592,035 Size: 40,561 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:64,524,305-64,593,005)mRNA (may differ from genome)Protein (909 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AFTIN_HUMAN
DESCRIPTION: RecName: Full=Aftiphilin;
FUNCTION: May play a role in membrane trafficking.
SUBUNIT: Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain.
SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with AP1G1 and clathrin.
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).
SEQUENCE CAUTION: Sequence=AAH22247.1; Type=Frameshift; Positions=919; Sequence=BAB13930.1; Type=Erroneous initiation; Sequence=BAB14949.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 569.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.70340-0.458 Picture PostScript Text
3' UTR -215.50970-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q6ULP2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030276 clathrin binding

Biological Process:
GO:0015031 protein transport

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0030121 AP-1 adaptor complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC047529 - Homo sapiens aftiphilin, mRNA (cDNA clone MGC:33965 IMAGE:5311682), complete cds.
AK000087 - Homo sapiens cDNA FLJ20080 fis, clone COL03184.
JD525688 - Sequence 506712 from Patent EP1572962.
JD520429 - Sequence 501453 from Patent EP1572962.
JD129574 - Sequence 110598 from Patent EP1572962.
AK222821 - Homo sapiens mRNA for aftiphilin protein isoform b variant, clone: HEP05511.
JD462183 - Sequence 443207 from Patent EP1572962.
JD520706 - Sequence 501730 from Patent EP1572962.
AL833962 - Homo sapiens mRNA; cDNA DKFZp761H189 (from clone DKFZp761H189).
JD125845 - Sequence 106869 from Patent EP1572962.
AK093926 - Homo sapiens cDNA FLJ36607 fis, clone TRACH2015823.
JD245267 - Sequence 226291 from Patent EP1572962.
AB527811 - Synthetic construct DNA, clone: pF1KB8503, Homo sapiens AFTPH gene for aftiphilin, without stop codon, in Flexi system.
AY367088 - Homo sapiens brain aftiphilin mRNA, complete cds.
AB073356 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla10388, full insert sequence.
AK021899 - Homo sapiens cDNA FLJ11837 fis, clone HEMBA1006612.
AK024658 - Homo sapiens cDNA: FLJ21005 fis, clone CAE03745.
BC022247 - Homo sapiens aftiphilin, mRNA (cDNA clone IMAGE:4616671), complete cds.
KJ902693 - Synthetic construct Homo sapiens clone ccsbBroadEn_12087 AFTPH gene, encodes complete protein.
CU692506 - Synthetic construct Homo sapiens gateway clone IMAGE:100022061 5' read AFTPH mRNA.
JD303704 - Sequence 284728 from Patent EP1572962.
JD515842 - Sequence 496866 from Patent EP1572962.
JD088761 - Sequence 69785 from Patent EP1572962.
JD221173 - Sequence 202197 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AFTH, AFTIN_HUMAN, D6W5E9, ENST00000238856.1, ENST00000238856.2, ENST00000238856.3, ENST00000238856.4, ENST00000238856.5, ENST00000238856.6, ENST00000238856.7, NM_017657, Q6ULP2, Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4, uc002sdb.1, uc002sdb.2, uc002sdb.3, uc002sdb.4, uc002sdb.5
UCSC ID: ENST00000238856.8
RefSeq Accession: NM_203437
Protein: Q6ULP2 (aka AFTIN_HUMAN)
CCDS: CCDS1878.1, CCDS46303.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.