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
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AAGAB_HUMAN
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
FrontTopSide
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-  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: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.