Human Gene WDFY1 (ENST00000233055.9) from GENCODE V44
  Description: Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA. (from RefSeq NM_020830)
RefSeq Summary (NM_020830): The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015].
Gencode Transcript: ENST00000233055.9
Gencode Gene: ENSG00000085449.15
Transcript (Including UTRs)
   Position: hg38 chr2:223,875,348-223,945,335 Size: 69,988 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr2:223,878,671-223,945,284 Size: 66,614 Coding Exon Count: 12 

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 (chr2:223,875,348-223,945,335)mRNA (may differ from genome)Protein (410 aa)
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OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDFY1_HUMAN
DESCRIPTION: RecName: Full=WD repeat and FYVE domain-containing protein 1; AltName: Full=FENS-1; AltName: Full=Phosphoinositide-binding protein 1; AltName: Full=WD40- and FYVE domain-containing protein 1; AltName: Full=Zinc finger FYVE domain-containing protein 17;
SUBUNIT: Binds PtdIns3P in vitro with high specificity over other phosphoinositides.
SUBCELLULAR LOCATION: Early endosome.
DOMAIN: The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 7 WD repeats.
SEQUENCE CAUTION: Sequence=BAA92673.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  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: 33.73 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 490.16 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 -19.9051-0.390 Picture PostScript Text
3' UTR -819.203323-0.247 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
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01363 - FYVE zinc finger
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q8IWB7
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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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005545 1-phosphatidylinositol binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0034141 positive regulation of toll-like receptor 3 signaling pathway
GO:0034145 positive regulation of toll-like receptor 4 signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC040525 - Homo sapiens WD repeat and FYVE domain containing 1, mRNA (cDNA clone MGC:39547 IMAGE:5285567), complete cds.
BC065934 - Homo sapiens WD repeat and FYVE domain containing 1, mRNA (cDNA clone MGC:70620 IMAGE:6164567), complete cds.
AB037856 - Homo sapiens KIAA1435 mRNA for KIAA1435 protein.
AK022888 - Homo sapiens cDNA FLJ12826 fis, clone NT2RP2002929, weakly similar to HYPOTHETICAL 46.2 KD TRP-ASP REPEATS CONTAINING PROTEIN D2013.2 IN CHROMOSOME II.
JD240629 - Sequence 221653 from Patent EP1572962.
JD536520 - Sequence 517544 from Patent EP1572962.
JD146757 - Sequence 127781 from Patent EP1572962.
JD345514 - Sequence 326538 from Patent EP1572962.
JD237703 - Sequence 218727 from Patent EP1572962.
JD546102 - Sequence 527126 from Patent EP1572962.
JD172052 - Sequence 153076 from Patent EP1572962.
JD450967 - Sequence 431991 from Patent EP1572962.
JD133605 - Sequence 114629 from Patent EP1572962.
JD363630 - Sequence 344654 from Patent EP1572962.
JD038782 - Sequence 19806 from Patent EP1572962.
JD313993 - Sequence 295017 from Patent EP1572962.
AK023415 - Homo sapiens cDNA FLJ13353 fis, clone OVARC1002182, weakly similar to BETA-TRCP (BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN).
JD557857 - Sequence 538881 from Patent EP1572962.
JD449139 - Sequence 430163 from Patent EP1572962.
JD373504 - Sequence 354528 from Patent EP1572962.
JD319856 - Sequence 300880 from Patent EP1572962.
JD239570 - Sequence 220594 from Patent EP1572962.
JD147970 - Sequence 128994 from Patent EP1572962.
JD096488 - Sequence 77512 from Patent EP1572962.
JD313084 - Sequence 294108 from Patent EP1572962.
JD289339 - Sequence 270363 from Patent EP1572962.
JD528782 - Sequence 509806 from Patent EP1572962.
JD334045 - Sequence 315069 from Patent EP1572962.
JD132419 - Sequence 113443 from Patent EP1572962.
AJ310568 - Homo sapiens mRNA for phosphoinositide-binding protein, isolate SR1.
JD316715 - Sequence 297739 from Patent EP1572962.
JD504814 - Sequence 485838 from Patent EP1572962.
JD224197 - Sequence 205221 from Patent EP1572962.
JD096952 - Sequence 77976 from Patent EP1572962.
JD038388 - Sequence 19412 from Patent EP1572962.
JD106512 - Sequence 87536 from Patent EP1572962.
JD407421 - Sequence 388445 from Patent EP1572962.
AF411977 - Homo sapiens WD40- and FYVE-domain containing protein 1 (WDF1) mRNA, complete cds.
HQ447983 - Synthetic construct Homo sapiens clone IMAGE:100071350; CCSB010378_02 WD repeat and FYVE domain containing 1 (WDFY1) gene, encodes complete protein.
KJ894439 - Synthetic construct Homo sapiens clone ccsbBroadEn_03833 WDFY1 gene, encodes complete protein.
AB384206 - Synthetic construct DNA, clone: pF1KSDA1435, Homo sapiens WDFY1 gene for WD repeat and FYVE domain-containing protein 1, complete cds, without stop codon, in Flexi system.
AB527455 - Synthetic construct DNA, clone: pF1KA1435, Homo sapiens WDFY1 gene for WD repeat and FYVE domain containing 1, without stop codon, in Flexi system.
CU691898 - Synthetic construct Homo sapiens gateway clone IMAGE:100020864 5' read WDFY1 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000233055.1, ENST00000233055.2, ENST00000233055.3, ENST00000233055.4, ENST00000233055.5, ENST00000233055.6, ENST00000233055.7, ENST00000233055.8, KIAA1435, NM_020830, Q53S17, Q8IWB7, Q9H9D5, Q9P2B3, uc002vnq.1, uc002vnq.2, uc002vnq.3, uc002vnq.4, uc002vnq.5, WDF1, WDFY1_HUMAN, ZFYVE17
UCSC ID: ENST00000233055.9
RefSeq Accession: NM_020830
Protein: Q8IWB7 (aka WDFY1_HUMAN or WDF1_HUMAN)
CCDS: CCDS33387.1

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