Human Gene AAGAB (ENST00000542650.5) Description and Page Index
  Description: Homo sapiens alpha and gamma adaptin binding protein (AAGAB), transcript variant 2, mRNA. (from RefSeq NM_001271885)
RefSeq Summary (NM_001271885): The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012].
Gencode Transcript: ENST00000542650.5
Gencode Gene: ENSG00000103591.13
Transcript (Including UTRs)
   Position: hg38 chr15:67,202,740-67,255,195 Size: 52,456 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr15:67,202,821-67,236,441 Size: 33,621 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr15:67,202,740-67,255,195)mRNA (may differ from genome)Protein (206 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Alpha- and gamma-adaptin-binding protein p34;
FUNCTION: May play a role in membrane traffic (By similarity).
SUBUNIT: Interacts with AP1G1 and AP2A1 (By similarity).

-  MalaCards Disease Associations
  MalaCards Gene Search: AAGAB
Diseases sorted by gene-association score: keratoderma, palmoplantar, punctate type ia* (1350), punctate palmoplantar keratoderma (41)
* = Manually curated disease association

-  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: 15.11 RPKM in Testis
Total median expression: 442.80 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 -86.70313-0.277 Picture PostScript Text
3' UTR -14.3081-0.177 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
  InterPro Domains: Graphical view of domain structure
IPR019341 - Alpha/Gamma-adaptin-bd_p34

Pfam Domains:
PF10199 - Alpha and gamma adaptin binding protein p34

ModBase Predicted Comparative 3D Structure on Q6PD74
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     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0015031 protein transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck

-  Descriptions from all associated GenBank mRNAs
  LF208541 - JP 2014500723-A/16044: Polycomb-Associated Non-Coding RNAs.
MA444118 - JP 2018138019-A/16044: Polycomb-Associated Non-Coding RNAs.
AL136715 - Homo sapiens mRNA; cDNA DKFZp566A0646 (from clone DKFZp566A0646).
BC058886 - Homo sapiens alpha- and gamma-adaptin-binding protein p34, mRNA (cDNA clone MGC:64869 IMAGE:6503238), complete cds.
BC047026 - Homo sapiens alpha- and gamma-adaptin-binding protein p34, mRNA (cDNA clone MGC:54068 IMAGE:5534878), complete cds.
BC035852 - Homo sapiens cDNA clone IMAGE:5752700, containing frame-shift errors.
AK021568 - Homo sapiens cDNA FLJ11506 fis, clone HEMBA1002151, moderately similar to Rattus norvegicus p34 mRNA.
CR533540 - Homo sapiens full open reading frame cDNA clone RZPDo834G0619D for gene FLJ11506, hypothetical protein FLJ11506; complete cds, incl. stopcodon.
AK294402 - Homo sapiens cDNA FLJ57273 complete cds, highly similar to Alpha-and gamma-adaptin-binding protein p34.
KJ894718 - Synthetic construct Homo sapiens clone ccsbBroadEn_04112 AAGAB gene, encodes complete protein.
AB528136 - Synthetic construct DNA, clone: pF1KE0434, Homo sapiens FLJ11506 gene for alpha- and gamma-adaptin binding protein, without stop codon, in Flexi system.
AM393020 - Synthetic construct Homo sapiens clone IMAGE:100001773 for hypothetical protein (FLJ11506 gene).
AM393411 - Synthetic construct Homo sapiens clone IMAGE:100001778 for hypothetical protein (FLJ11506 gene).
CU691322 - Synthetic construct Homo sapiens gateway clone IMAGE:100021673 5' read FLJ11506 mRNA.
BC001975 - Homo sapiens alpha- and gamma-adaptin-binding protein p34, mRNA (cDNA clone IMAGE:3458978), partial cds.
AL832256 - Homo sapiens mRNA; cDNA DKFZp667D2317 (from clone DKFZp667D2317).
BX648272 - Homo sapiens mRNA; cDNA DKFZp686G08119 (from clone DKFZp686G08119).
LF377466 - JP 2014500723-A/184969: Polycomb-Associated Non-Coding RNAs.
MA613043 - JP 2018138019-A/184969: Polycomb-Associated Non-Coding RNAs.
JD132808 - Sequence 113832 from Patent EP1572962.
JD548240 - Sequence 529264 from Patent EP1572962.
AK126986 - Homo sapiens cDNA FLJ45040 fis, clone BRAWH3020486.
LF377464 - JP 2014500723-A/184967: Polycomb-Associated Non-Coding RNAs.
MA613041 - JP 2018138019-A/184967: Polycomb-Associated Non-Coding RNAs.
LF377456 - JP 2014500723-A/184959: Polycomb-Associated Non-Coding RNAs.
MA613033 - JP 2018138019-A/184959: Polycomb-Associated Non-Coding RNAs.
JD023357 - Sequence 4381 from Patent EP1572962.
JD032826 - Sequence 13850 from Patent EP1572962.
LF377454 - JP 2014500723-A/184957: Polycomb-Associated Non-Coding RNAs.
MA613031 - JP 2018138019-A/184957: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AAGAB_HUMAN, NM_001271885, Q6FI86, Q6PD74, Q7Z5X9, Q9H0P1, Q9HAK0, uc010uju.1, uc010uju.2, uc010uju.3, uc010uju.4
UCSC ID: uc010uju.4
RefSeq Accession: NM_001271885
Protein: Q6PD74 (aka AAGAB_HUMAN)
CCDS: CCDS61679.1

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