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Aliases for ZFYVE27 Gene

Aliases for ZFYVE27 Gene

  • Zinc Finger FYVE-Type Containing 27 2 3 5
  • Spastic Paraplegia 33 Protein 3 4
  • Protrudin 2 3
  • SPG33 3 4
  • Zinc Finger FYVE Domain-Containing Protein 27 4
  • Zinc Finger, FYVE Domain Containing 27 2
  • Zinc Finger FYVE Domain Containing 27 3

External Ids for ZFYVE27 Gene

Previous GeneCards Identifiers for ZFYVE27 Gene

  • GC10P099162
  • GC10P099486
  • GC10P093122

Summaries for ZFYVE27 Gene

Entrez Gene Summary for ZFYVE27 Gene

  • This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

GeneCards Summary for ZFYVE27 Gene

ZFYVE27 (Zinc Finger FYVE-Type Containing 27) is a Protein Coding gene. Diseases associated with ZFYVE27 include Spastic Paraplegia 33, Autosomal Dominant and Spastic Paraplegia 33. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot for ZFYVE27 Gene

  • Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner (PubMed:19289470). Contributes to both the formation and stabilization of the tubular ER network (PubMed:24668814). Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831). Acts as an adapter protein and facilitates the interaction of KIF5A with VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 and the ZFYVE27-KIF5A complex contributes to the transport of these proteins in neurons. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a KIF5A/B-dependent manner (PubMed:21976701).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZFYVE27 Gene

Genomics for ZFYVE27 Gene

Regulatory Elements for ZFYVE27 Gene

Enhancers for ZFYVE27 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F097772 0.2 ENCODE 22.4 +35.5 35534 1.0 GLIS2 ZNF366 GATA2 SP3 ZBTB2 ZEB2 KLF16 SMARCA4 IKZF1 GLIS1 ZFYVE27 CRTAC1 SFRP5 PIR33458
GH10F097681 1.5 FANTOM5 ENCODE 18.9 -50.5 -50503 9.4 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MORN4 MARVELD1 ZFYVE27 SLIT1-AS1 RRP12 R3HCC1L PI4K2A AVPI1 PIR48246
GH10F097790 0.2 ENCODE 18.4 +53.9 53928 0.2 ZNF362 ZFYVE27 CRTAC1 SFRP5 PIR33458
GH10F097639 1 FANTOM5 ENCODE 15.9 -96.0 -95955 2.7 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 GLIS2 ZNF143 FOS KLF13 MORN4 ZFYVE27 ANKRD2 AVPI1 C10orf62 ENSG00000249967 HOGA1 MMS19 UBTD1 PI4K2A
GH10F097759 0.5 ENCODE 14.1 +22.5 22478 0.2 ARID4B ZNF48 ZSCAN9 RAD21 ZNF121 ZNF335 GLIS2 ZNF143 MIXL1 THAP11 ZFYVE27 SFRP5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZFYVE27 on UCSC Golden Path with GeneCards custom track

Promoters for ZFYVE27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001426388 379 1401 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for ZFYVE27 Gene

Chromosome:
10
Start:
97,737,121 bp from pter
End:
97,760,907 bp from pter
Size:
23,787 bases
Orientation:
Plus strand

Genomic View for ZFYVE27 Gene

Genes around ZFYVE27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFYVE27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFYVE27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE27 Gene

Proteins for ZFYVE27 Gene

  • Protein details for ZFYVE27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T4F4-ZFY27_HUMAN
    Recommended name:
    Protrudin
    Protein Accession:
    Q5T4F4
    Secondary Accessions:
    • B7Z3S0
    • B7Z404
    • B7Z626
    • G8JLC3
    • G8JLF0
    • J3KP98
    • Q5T4F1
    • Q5T4F2
    • Q5T4F3
    • Q8N1K0
    • Q8N6D6
    • Q8NCA0
    • Q8NDE4
    • Q96M08

    Protein attributes for ZFYVE27 Gene

    Size:
    411 amino acids
    Molecular mass:
    45843 Da
    Quaternary structure:
    • Can form homooligomers (monomers, dimers and tetramers) (PubMed:23969831). Interacts with RAB11A (GDP-bound form); regulates RAB11A (PubMed:17082457). Interacts with FKBP8; may negatively regulate ZFYVE27 phosphorylation (PubMed:17082457, PubMed:18459960). Interacts with VAPA (via MSP domain); may regulate ZFYVE27 retention in the endoplasmic reticulum and its function in cell projections formation (PubMed:19289470, PubMed:21976701). Interacts with VAPB (via MSP domain) (PubMed:19289470, PubMed:21976701). Interacts with REEP1, REEP5 and ATL1 (PubMed:24668814, PubMed:23969831). Interacts with ATL2, ATL3 and SPAST (PubMed:23969831). Interacts with KIF5A and RTN3 (PubMed:21976701). Interacts with RAB11B (GDP-bound form), SURF4, KIF5B and KIF5C (By similarity).
    SequenceCaution:
    • Sequence=CAD38913.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZFYVE27 Gene

    Alternative splice isoforms for ZFYVE27 Gene

neXtProt entry for ZFYVE27 Gene

Post-translational modifications for ZFYVE27 Gene

  • Phosphorylated. Phosphorylation is induced by NGF through the MAPK/ERK pathway and modulates interaction with RAB11A.
  • Glycosylation at Asn 209
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZFYVE27 Gene

Domains & Families for ZFYVE27 Gene

Gene Families for ZFYVE27 Gene

Protein Domains for ZFYVE27 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T4F4

UniProtKB/Swiss-Prot:

ZFY27_HUMAN :
  • Contains 1 FYVE-type zinc finger.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with ZFYVE27: view

Function for ZFYVE27 Gene

Molecular function for ZFYVE27 Gene

UniProtKB/Swiss-Prot Function:
Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner (PubMed:19289470). Contributes to both the formation and stabilization of the tubular ER network (PubMed:24668814). Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831). Acts as an adapter protein and facilitates the interaction of KIF5A with VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 and the ZFYVE27-KIF5A complex contributes to the transport of these proteins in neurons. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a KIF5A/B-dependent manner (PubMed:21976701).

Gene Ontology (GO) - Molecular Function for ZFYVE27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17082457
GO:0043621 protein self-association IDA 23969831
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFYVE27: view
genes like me logo Genes that share phenotypes with ZFYVE27: view

Human Phenotype Ontology for ZFYVE27 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFYVE27 Gene

Localization for ZFYVE27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFYVE27 Gene

Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, growth cone membrane; Multi-pass membrane protein. Note=Localizes at both dendrites and axons (By similarity). Localizes to endoplasmic reticulum tubular network. {ECO:0000250 UniProtKB:Q3TXX3, ECO:0000269 PubMed:23969831, ECO:0000269 PubMed:24668814}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZFYVE27 Gene COMPARTMENTS Subcellular localization image for ZFYVE27 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
plasma membrane 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ZFYVE27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 19289470
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ZFYVE27: view

Pathways & Interactions for ZFYVE27 Gene

SuperPathways for ZFYVE27 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with ZFYVE27: view

Pathways by source for ZFYVE27 Gene

1 KEGG pathway for ZFYVE27 Gene

Gene Ontology (GO) - Biological Process for ZFYVE27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IDA 21976701
GO:0031175 neuron projection development IDA 17082457
GO:0045773 positive regulation of axon extension ISS --
GO:0048011 neurotrophin TRK receptor signaling pathway ISS --
GO:0071787 endoplasmic reticulum tubular network assembly IMP 23969831
genes like me logo Genes that share ontologies with ZFYVE27: view

No data available for SIGNOR curated interactions for ZFYVE27 Gene

Transcripts for ZFYVE27 Gene

Unigene Clusters for ZFYVE27 Gene

Zinc finger, FYVE domain containing 27:
Representative Sequences:

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Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE27 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: - - -
SP6: - -
SP7: - -
SP8: - - - - - - - -
SP9: - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - - -
SP13: - - -
SP14:
SP15: -
SP16: - - - - - - -
SP17:
SP18:

ExUns: 14 ^ 15a · 15b · 15c ^ 16 ^ 17
SP1:
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for ZFYVE27 Gene

GeneLoc Exon Structure for
ZFYVE27
ECgene alternative splicing isoforms for
ZFYVE27

Expression for ZFYVE27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFYVE27 Gene

Protein differential expression in normal tissues from HIPED for ZFYVE27 Gene

This gene is overexpressed in Urine (58.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFYVE27 Gene



Protein tissue co-expression partners for ZFYVE27 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFYVE27 Gene:

ZFYVE27

SOURCE GeneReport for Unigene cluster for ZFYVE27 Gene:

Hs.744075
genes like me logo Genes that share expression patterns with ZFYVE27: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ZFYVE27 Gene

Orthologs for ZFYVE27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZFYVE27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFYVE27 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia ZFYVE27 34 35
  • 90.35 (n)
cow
(Bos Taurus)
Mammalia ZFYVE27 34 35
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia Zfyve27 34
  • 86.14 (n)
mouse
(Mus musculus)
Mammalia Zfyve27 34 16 35
  • 85.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE27 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZFYVE27 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE27 34 35
  • 70.32 (n)
lizard
(Anolis carolinensis)
Reptilia ZFYVE27 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve27 34
  • 65.4 (n)
zebrafish
(Danio rerio)
Actinopterygii zfyve27 34 35
  • 59.35 (n)
Species where no ortholog for ZFYVE27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZFYVE27 Gene

ENSEMBL:
Gene Tree for ZFYVE27 (if available)
TreeFam:
Gene Tree for ZFYVE27 (if available)

Paralogs for ZFYVE27 Gene

No data available for Paralogs for ZFYVE27 Gene

Variants for ZFYVE27 Gene

Sequence variations from dbSNP and Humsavar for ZFYVE27 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs35077384 Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244], Pathogenic 97,749,494(-) CTGTG(A/C)CCAGA nc-transcript-variant, reference, missense
rs10882993 Likely benign 97,744,873(+) GAGAG(G/T)TCGCC intron-variant, nc-transcript-variant, reference, missense
rs17108378 Likely benign 97,743,140(+) TCAAC(A/G)TCTTG intron-variant, nc-transcript-variant, reference, missense
rs75060573 Likely benign 97,744,838(+) AGGAA(A/G)TATCA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs372715032 Uncertain significance 97,751,374(+) GTCAT(A/G)GAGTC intron-variant, splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for ZFYVE27 Gene

Variant ID Type Subtype PubMed ID
nsv552026 CNV loss 21841781

Variation tolerance for ZFYVE27 Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.72; 66.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZFYVE27 Gene

Human Gene Mutation Database (HGMD)
ZFYVE27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFYVE27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE27 Gene

Disorders for ZFYVE27 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZFYVE27 Gene - From: OMIM, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 33, autosomal dominant
  • spg33
spastic paraplegia 33
  • spastic paraplegia 33, autosomal dominant
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZFY27_HUMAN
  • Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244]: A form of spastic paraplegia, 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. {ECO:0000269 PubMed:16826525}. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.

Relevant External Links for ZFYVE27

Genetic Association Database (GAD)
ZFYVE27
Human Genome Epidemiology (HuGE) Navigator
ZFYVE27
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZFYVE27
genes like me logo Genes that share disorders with ZFYVE27: view

No data available for Genatlas for ZFYVE27 Gene

Publications for ZFYVE27 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
  2. Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. (PMID: 24668814) Hashimoto Y. … Nakayama K.I. (J. Biol. Chem. 2014) 3 4 64
  3. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J. … Blackstone C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  4. Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation. (PMID: 21976701) Matsuzaki F. … Nakayama K.I. (Mol. Biol. Cell 2011) 3 4 64
  5. Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein. (PMID: 19289470) Saita S. … Nakayama K.I. (J. Biol. Chem. 2009) 3 4 64

Products for ZFYVE27 Gene

Sources for ZFYVE27 Gene

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