Human Gene AGFG1 (uc002vpd.2) Description and Page Index
  Description: Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 1, mRNA.
RefSeq Summary (NM_001135187): The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:228,336,888-228,425,938 Size: 89,051 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr2:228,337,138-228,419,211 Size: 82,074 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:228,336,888-228,425,938)mRNA (may differ from genome)Protein (584 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Arf-GAP domain and FG repeat-containing protein 1;
SIMILARITY: Contains 1 Arf-GAP domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AGFG1
CDC HuGE Published Literature: AGFG1

-  MalaCards Disease Associations
  MalaCards Gene Search: AGFG1
Diseases sorted by gene-association score: choroideremia (12), hiv-1 (5), griscelli syndrome (4), warburg micro syndrome 4 (2), hypotrichosis 3 (2), progressive bulbar palsy (2), testis seminoma (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.62 RPKM in Testis
Total median expression: 408.39 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 -166.00250-0.664 Picture PostScript Text
3' UTR -1696.356727-0.252 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
IPR001164 - ArfGAP

Pfam Domains:
PF01412 - Putative GTPase activating protein for Arf

SCOP Domains:
57863 - Pyk2-associated protein beta ARF-GAP domain

ModBase Predicted Comparative 3D Structure on E9PHX7
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     

-  Descriptions from all associated GenBank mRNAs
  HZ409693 - JP 2015528002-A/2290: CHIRAL CONTROL.
LG053027 - KR 1020150036642-A/2293: CHIRAL CONTROL.
AK097451 - Homo sapiens cDNA FLJ40132 fis, clone TESTI2012155, highly similar to NUCLEOPORIN-LIKE PROTEIN RIP.
JD317388 - Sequence 298412 from Patent EP1572962.
JD538149 - Sequence 519173 from Patent EP1572962.
BC030592 - Homo sapiens ArfGAP with FG repeats 1, mRNA (cDNA clone MGC:26523 IMAGE:4836885), complete cds.
X89478 - H.sapiens mRNA for nucleoporin-like protein.
BC096272 - Homo sapiens ArfGAP with FG repeats 1, mRNA (cDNA clone MGC:116938 IMAGE:40006445), complete cds.
BC096273 - Homo sapiens ArfGAP with FG repeats 1, mRNA (cDNA clone MGC:116939 IMAGE:40006446), complete cds.
BC096274 - Homo sapiens ArfGAP with FG repeats 1, mRNA (cDNA clone MGC:116940 IMAGE:40006448), complete cds.
BC096275 - Homo sapiens ArfGAP with FG repeats 1, mRNA (cDNA clone MGC:116941 IMAGE:40006449), complete cds.
AB527534 - Synthetic construct DNA, clone: pF1KB5974, Homo sapiens AGFG1 gene for ArfGAP with FG repeats-containing protein 1, without stop codon, in Flexi system.
KJ905214 - Synthetic construct Homo sapiens clone ccsbBroadEn_14670 AGFG1 gene, encodes complete protein.
CU688928 - Synthetic construct Homo sapiens gateway clone IMAGE:100020392 5' read HRB mRNA.
KJ905783 - Synthetic construct Homo sapiens clone ccsbBroadEn_15453 AGFG1 gene, encodes complete protein.
KU178123 - Homo sapiens ArfGAP with FG repeats 1 isoform 1 (AGFG1) mRNA, partial cds.
KU178124 - Homo sapiens ArfGAP with FG repeats 1 isoform 2 (AGFG1) mRNA, partial cds, alternatively spliced.
KU178125 - Homo sapiens ArfGAP with FG repeats 1 isoform 3 (AGFG1) mRNA, partial cds, alternatively spliced.
KU178126 - Homo sapiens ArfGAP with FG repeats 1 isoform 4 (AGFG1) mRNA, partial cds, alternatively spliced.
AK295030 - Homo sapiens cDNA FLJ57927 complete cds, highly similar to Nucleoporin-like protein RIP.
JD296502 - Sequence 277526 from Patent EP1572962.
JD239199 - Sequence 220223 from Patent EP1572962.
JD061383 - Sequence 42407 from Patent EP1572962.
JD292672 - Sequence 273696 from Patent EP1572962.
JD447756 - Sequence 428780 from Patent EP1572962.
JD085265 - Sequence 66289 from Patent EP1572962.
JD326933 - Sequence 307957 from Patent EP1572962.
BX648387 - Homo sapiens mRNA; cDNA DKFZp686I15205 (from clone DKFZp686I15205).
BC039332 - Homo sapiens hypothetical protein LOC285086, mRNA (cDNA clone IMAGE:5267907).
BC045581 - Homo sapiens hypothetical protein LOC285086, mRNA (cDNA clone IMAGE:4838790).
JD436179 - Sequence 417203 from Patent EP1572962.
JD393831 - Sequence 374855 from Patent EP1572962.
JD498071 - Sequence 479095 from Patent EP1572962.
JD300577 - Sequence 281601 from Patent EP1572962.
JD098628 - Sequence 79652 from Patent EP1572962.
JD087365 - Sequence 68389 from Patent EP1572962.
JD250474 - Sequence 231498 from Patent EP1572962.
JD083730 - Sequence 64754 from Patent EP1572962.
JD543596 - Sequence 524620 from Patent EP1572962.
JD244899 - Sequence 225923 from Patent EP1572962.
JD403811 - Sequence 384835 from Patent EP1572962.
JD096832 - Sequence 77856 from Patent EP1572962.
JD112768 - Sequence 93792 from Patent EP1572962.
JD276855 - Sequence 257879 from Patent EP1572962.
JD453286 - Sequence 434310 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PHX7, E9PHX7_HUMAN, NM_001135187, NP_001128659
UCSC ID: uc002vpd.2
RefSeq Accession: NM_001135187
Protein: E9PHX7 CCDS: CCDS2467.1, CCDS46533.1, CCDS46534.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001135187.1
exon count: 14CDS single in 3' UTR: no RNA size: 8750
ORF size: 1755CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3543.00frame shift in genome: no % Coverage: 99.79
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.