Human Gene AP1G1 (uc010vmh.1) Description and Page Index
  Description: Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 1, mRNA.
RefSeq Summary (NM_001030007): Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr16:71,800,342-71,842,976 Size: 42,635 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr16:71,800,344-71,842,735 Size: 42,392 Coding Exon Count: 8 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:71,800,342-71,842,976)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMGIPubMedStanford SOURCEUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AP1G1
CDC HuGE Published Literature: AP1G1

-  MalaCards Disease Associations
  MalaCards Gene Search: AP1G1
Diseases sorted by gene-association score: hypoactive sexual desire disorder (7)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.13 RPKM in Testis
Total median expression: 533.10 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.56241-0.376 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
IPR017107 - AP1_complex_gsu
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR002553 - Clathrin/coatomer_adapt-like_N

Pfam Domains:
PF01602 - Adaptin N terminal region
PF12717 - non-SMC mitotic condensation complex subunit 1

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on B4DS96
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006886 intracellular protein transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport

Cellular Component:
GO:0016020 membrane
GO:0030117 membrane coat


-  Descriptions from all associated GenBank mRNAs
  BC036283 - Homo sapiens adaptor-related protein complex 1, gamma 1 subunit, mRNA (cDNA clone MGC:18255 IMAGE:4158263), complete cds.
AK128078 - Homo sapiens cDNA FLJ46199 fis, clone TESTI4007965, highly similar to AP-1 complex subunit gamma-1.
Y12226 - H.sapiens mRNA for gamma-adaptin.
AK293233 - Homo sapiens cDNA FLJ55047 complete cds, highly similar to AP-1 complex subunit gamma-1 (Adapter-related protein complex 1 gamma-1 subunit) (Gamma-adaptin)(Adaptor protein complex AP-1 gamma-1 subunit) (Golgi adaptor HA1/AP1 adaptin subunit gamma-1) (Clathrin assembly protein complex 1 gamma-1 large chain).
AB015317 - Homo sapiens mRNA for gamma1-adaptin, complete cds.
AK225906 - Homo sapiens mRNA for adaptor-related protein complex 1, gamma 1 subunit isoform a variant, clone: FCC119H01.
AK314484 - Homo sapiens cDNA, FLJ95292.
AK299630 - Homo sapiens cDNA FLJ55587 complete cds, highly similar to AP-1 complex subunit gamma-1 (Adapter-relatedprotein complex 1 gamma- 1 subunit) (Gamma-adaptin)(Adaptor protein complex AP-1 gamma-1 subunit) (Golgiadaptor HA1/AP1 adaptin subunit gamma-1) (Clathrinassembly protein complex 1 gamma-1 large chain).
AK294546 - Homo sapiens cDNA FLJ52990 complete cds, highly similar to AP-1 complex subunit gamma-1 (Adapter-related protein complex 1 gamma-1 subunit) (Gamma-adaptin)(Adaptor protein complex AP-1 gamma-1 subunit) (Golgiadaptor HA1/AP1 adaptin subunit gamma-1) (Clathrin assembly protein complex 1 gamma-1 large chain).
HM005334 - Homo sapiens clone HTL-T-21 testicular tissue protein Li 21 mRNA, complete cds.
EU832486 - Synthetic construct Homo sapiens clone HAIB:100067515; DKFZo008E0329 adaptor-related protein complex 1, gamma 1 subunit protein (AP1G1) gene, encodes complete protein.
EU832566 - Synthetic construct Homo sapiens clone HAIB:100067595; DKFZo004E0330 adaptor-related protein complex 1, gamma 1 subunit protein (AP1G1) gene, encodes complete protein.
AB527830 - Synthetic construct DNA, clone: pF1KB5777, Homo sapiens AP1G1 gene for adaptor-related protein complex 1, gamma 1 subunit, without stop codon, in Flexi system.
AL050025 - Homo sapiens mRNA; cDNA DKFZp564D066 (from clone DKFZp564D066).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome

-  Other Names for This Gene
  Alternate Gene Symbols: AK299630, B4DS96, B4DS96_HUMAN
UCSC ID: uc010vmh.1
RefSeq Accession: NM_001030007
Protein: B4DS96

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK299630.1
exon count: 8CDS single in 3' UTR: no RNA size: 1727
ORF size: 894CDS single in intron: no Alignment % ID: 99.83
txCdsPredict score: 1763.00frame shift in genome: no % Coverage: 51.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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