Human Gene ZFYVE27 (ENST00000684270.1_2) from GENCODE V47lift37
  Description: zinc finger FYVE-type containing 27, transcript variant 52 (from RefSeq NR_169797.1)
Gencode Transcript: ENST00000684270.1_2
Gencode Gene: ENSG00000155256.18_11
Transcript (Including UTRs)
   Position: hg19 chr10:99,496,885-99,520,652 Size: 23,768 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr10:99,498,235-99,519,057 Size: 20,823 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:99,496,885-99,520,652)mRNA (may differ from genome)Protein (411 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ZFY27_HUMAN
DESCRIPTION: RecName: Full=Protrudin; AltName: Full=Zinc finger FYVE domain-containing protein 27;
FUNCTION: Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation.
SUBUNIT: Interacts with SPAST. Interacts with RAB11A (GDP-bound form); regulates RAB11A. Interacts with FKBP8; may negatively regulate ZFYVE27 phosphorylation. Interacts with VAPA (via MSP domain); may regulate ZFYVE27 retention in the endoplasmic reticulum and its function in cell projections formation. Interacts with VAPB (via MSP domain).
INTERACTION: Q14318:FKBP8; NbExp=4; IntAct=EBI-3892947, EBI-724839; P62491:RAB11A; NbExp=4; IntAct=EBI-3892947, EBI-745098; Q9P0L0:VAPA; NbExp=5; IntAct=EBI-3892947, EBI-1059156; O95292:VAPB; NbExp=2; IntAct=EBI-3892947, EBI-1188298;
SUBCELLULAR LOCATION: Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, growth cone membrane; Multi- pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Localizes at both dendrites and axons (By similarity).
PTM: Phosphorylated. Phosphorylation is induced by NGF through the MAPK/ERK pathway and modulates interaction with RAB11A.
DISEASE: Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=According to PubMed:18606302, the properties of the variant Val-191 and its frequency in some populations raise doubts on the implication of that gene in the disease.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SEQUENCE CAUTION: Sequence=CAD38913.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZFYVE27
Diseases sorted by gene-association score: spastic paraplegia 33, autosomal dominant* (837), spastic paraplegia 33* (139), paraplegia (18), hereditary spastic paraplegia (11), spastic paraplegia 44, autosomal recessive (10), spastic paraplegia 12, autosomal dominant (9), spastic paraplegia 31, autosomal dominant (9), spastic paraplegia 10, autosomal dominant (8), spastic paraplegia 2, x-linked (7), spastic paraplegia 4, autosomal dominant (5), hereditary spastic paraplegia 3a (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  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 -90.90195-0.466 Picture PostScript Text
3' UTR -673.201595-0.422 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
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01363 - FYVE zinc finger

SCOP Domains:
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X4U - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q5T4F4
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043621 protein self-association
GO:0046872 metal ion binding

Biological Process:
GO:0016192 vesicle-mediated transport
GO:0031175 neuron projection development
GO:0045773 positive regulation of axon extension
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0071787 endoplasmic reticulum tubular network assembly
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0032584 growth cone membrane
GO:0042995 cell projection
GO:0055038 recycling endosome membrane
GO:0071782 endoplasmic reticulum tubular network


-  Descriptions from all associated GenBank mRNAs
  LF211327 - JP 2014500723-A/18830: Polycomb-Associated Non-Coding RNAs.
LF211328 - JP 2014500723-A/18831: Polycomb-Associated Non-Coding RNAs.
AK296295 - Homo sapiens cDNA FLJ59552 complete cds, highly similar to Zinc finger FYVE domain-containing protein 27.
AK057481 - Homo sapiens cDNA FLJ32919 fis, clone TESTI2006774.
AK300438 - Homo sapiens cDNA FLJ58326 complete cds, highly similar to Zinc finger FYVE domain-containing protein 27.
AK299735 - Homo sapiens cDNA FLJ59411 complete cds, highly similar to Zinc finger FYVE domain-containing protein 27.
AK097945 - Homo sapiens cDNA FLJ40626 fis, clone THYMU2014167.
BC030621 - Homo sapiens zinc finger, FYVE domain containing 27, mRNA (cDNA clone MGC:33516 IMAGE:4818199), complete cds.
JD468836 - Sequence 449860 from Patent EP1572962.
AK074876 - Homo sapiens cDNA FLJ90395 fis, clone NT2RP2005666.
AK296588 - Homo sapiens cDNA FLJ55096 complete cds, highly similar to Zinc finger FYVE domain-containing protein 27.
BX647836 - Homo sapiens mRNA; cDNA DKFZp686N2486 (from clone DKFZp686N2486).
JD400859 - Sequence 381883 from Patent EP1572962.
JD464614 - Sequence 445638 from Patent EP1572962.
JD191793 - Sequence 172817 from Patent EP1572962.
JD077174 - Sequence 58198 from Patent EP1572962.
JD470947 - Sequence 451971 from Patent EP1572962.
JD138953 - Sequence 119977 from Patent EP1572962.
JD393117 - Sequence 374141 from Patent EP1572962.
AL834235 - Homo sapiens mRNA; cDNA DKFZp547E092 (from clone DKFZp547E092).
JD541171 - Sequence 522195 from Patent EP1572962.
LF345644 - JP 2014500723-A/153147: Polycomb-Associated Non-Coding RNAs.
JD169907 - Sequence 150931 from Patent EP1572962.
CU688950 - Synthetic construct Homo sapiens gateway clone IMAGE:100018152 5' read ZFYVE27 mRNA.
KU178847 - Homo sapiens zinc finger FYVE domain containing 27 isoform 1 (ZFYVE27) mRNA, partial cds.
KU178848 - Homo sapiens zinc finger FYVE domain containing 27 isoform 4 (ZFYVE27) mRNA, partial cds.
KJ903678 - Synthetic construct Homo sapiens clone ccsbBroadEn_13072 ZFYVE27 gene, encodes complete protein.
KR709501 - Synthetic construct Homo sapiens clone CCSBHm_00002819 ZFYVE27 (ZFYVE27) mRNA, encodes complete protein.
LF345648 - JP 2014500723-A/153151: Polycomb-Associated Non-Coding RNAs.
LF345650 - JP 2014500723-A/153153: Polycomb-Associated Non-Coding RNAs.
LF211329 - JP 2014500723-A/18832: Polycomb-Associated Non-Coding RNAs.
LF345652 - JP 2014500723-A/153155: Polycomb-Associated Non-Coding RNAs.
JD402973 - Sequence 383997 from Patent EP1572962.
JD061265 - Sequence 42289 from Patent EP1572962.
JD418333 - Sequence 399357 from Patent EP1572962.
JD175434 - Sequence 156458 from Patent EP1572962.
JD480096 - Sequence 461120 from Patent EP1572962.
JD274506 - Sequence 255530 from Patent EP1572962.
JD076742 - Sequence 57766 from Patent EP1572962.
JD091056 - Sequence 72080 from Patent EP1572962.
JD235998 - Sequence 217022 from Patent EP1572962.
JD443886 - Sequence 424910 from Patent EP1572962.
JD483207 - Sequence 464231 from Patent EP1572962.
JD477260 - Sequence 458284 from Patent EP1572962.
JD515444 - Sequence 496468 from Patent EP1572962.
JD214165 - Sequence 195189 from Patent EP1572962.
JD337041 - Sequence 318065 from Patent EP1572962.
JD310178 - Sequence 291202 from Patent EP1572962.
JD098039 - Sequence 79063 from Patent EP1572962.
JD453882 - Sequence 434906 from Patent EP1572962.
JD185476 - Sequence 166500 from Patent EP1572962.
JD521879 - Sequence 502903 from Patent EP1572962.
LF345659 - JP 2014500723-A/153162: Polycomb-Associated Non-Coding RNAs.
JD078967 - Sequence 59991 from Patent EP1572962.
JD394172 - Sequence 375196 from Patent EP1572962.
JD159756 - Sequence 140780 from Patent EP1572962.
JD394029 - Sequence 375053 from Patent EP1572962.
JD163777 - Sequence 144801 from Patent EP1572962.
JD540689 - Sequence 521713 from Patent EP1572962.
JD296576 - Sequence 277600 from Patent EP1572962.
JD238874 - Sequence 219898 from Patent EP1572962.
JD151666 - Sequence 132690 from Patent EP1572962.
JD178212 - Sequence 159236 from Patent EP1572962.
JD177209 - Sequence 158233 from Patent EP1572962.
JD077628 - Sequence 58652 from Patent EP1572962.
JD486061 - Sequence 467085 from Patent EP1572962.
JD486062 - Sequence 467086 from Patent EP1572962.
JD054169 - Sequence 35193 from Patent EP1572962.
JD372133 - Sequence 353157 from Patent EP1572962.
JD079024 - Sequence 60048 from Patent EP1572962.
JD317494 - Sequence 298518 from Patent EP1572962.
JD108228 - Sequence 89252 from Patent EP1572962.
MA581221 - JP 2018138019-A/153147: Polycomb-Associated Non-Coding RNAs.
MA581225 - JP 2018138019-A/153151: Polycomb-Associated Non-Coding RNAs.
MA581227 - JP 2018138019-A/153153: Polycomb-Associated Non-Coding RNAs.
MA581229 - JP 2018138019-A/153155: Polycomb-Associated Non-Coding RNAs.
MA581236 - JP 2018138019-A/153162: Polycomb-Associated Non-Coding RNAs.
MA446904 - JP 2018138019-A/18830: Polycomb-Associated Non-Coding RNAs.
MA446905 - JP 2018138019-A/18831: Polycomb-Associated Non-Coding RNAs.
MA446906 - JP 2018138019-A/18832: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z3S0, B7Z404, B7Z626, G8JLC3, G8JLF0, J3KP98, NR_169797, Q5T4F1, Q5T4F2, Q5T4F3, Q5T4F4, Q8N1K0, Q8N6D6, Q8NCA0, Q8NDE4, Q96M08, SPG33 , uc330mpy.1, uc330mpy.2, ZFY27_HUMAN
UCSC ID: ENST00000684270.1_2
RefSeq Accession: NM_001385875.1
Protein: Q5T4F4 (aka ZFY27_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZFYVE27:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  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.