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Aliases for ZFYVE27 Gene

Aliases for ZFYVE27 Gene

  • Zinc Finger, FYVE Domain Containing 27 2 3
  • SPG33 3 6
  • Zinc Finger FYVE Domain-Containing Protein 27 4
  • Protrudin 2
  • PROTRUDIN 3

External Ids for ZFYVE27 Gene

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 Domain Containing 27) is a Protein Coding gene. Diseases associated with ZFYVE27 include spastic paraplegia 33, autosomal dominant and spastic paraplegia 33.

UniProtKB/Swiss-Prot for ZFYVE27 Gene

  • 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.

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

Genomic Location for ZFYVE27 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZFYVE27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE27 Gene

Regulatory Elements 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:
    • 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).
    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

Proteomics data for ZFYVE27 Gene at MOPED

Post-translational modifications for ZFYVE27 Gene

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

No data available for DME Specific Peptides for ZFYVE27 Gene

Domains for ZFYVE27 Gene

Gene Families for ZFYVE27 Gene

HGNC:
  • ZFYVE :Zinc fingers, FYVE domain containing

Protein Domains for ZFYVE27 Gene

UniProtKB/Swiss-Prot:

ZFY27_HUMAN
Similarity:
  • Contains 1 FYVE-type zinc finger.:
    • Q5T4F4
genes like me logo Genes that share domains with ZFYVE27: view

Function for ZFYVE27 Gene

Molecular function for ZFYVE27 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ZFYVE27 Gene

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

miRNA for ZFYVE27 Gene

miRTarBase miRNAs that target ZFYVE27

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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. Cell membrane; Multi-pass membrane protein. Note=Localizes at both dendrites and axons. {ECO:0000250}.

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 --
GO:0005783 endoplasmic reticulum IDA 19289470
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon ISS --
genes like me logo Genes that share ontologies with ZFYVE27: view

Pathways for ZFYVE27 Gene

SuperPathways for ZFYVE27 Gene

No Data Available

Interacting Proteins for ZFYVE27 Gene

Gene Ontology (GO) - Biological Process for ZFYVE27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0031175 neuron projection development IDA 17082457
GO:0048011 neurotrophin TRK receptor signaling pathway ISS --
GO:0072659 protein localization to plasma membrane ISS --
genes like me logo Genes that share ontologies with ZFYVE27: view

No data available for Pathways by source for ZFYVE27 Gene

Transcripts for ZFYVE27 Gene

Unigene Clusters for ZFYVE27 Gene

Zinc finger, FYVE domain containing 27:
Representative Sequences:

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 for ZFYVE27 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ZFYVE27 Gene

SOURCE GeneReport for Unigene cluster for ZFYVE27 Gene Hs.744075

genes like me logo Genes that share expressions with ZFYVE27: view

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 36
  • 99.44 (n)
  • 99.04 (a)
ZFYVE27 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE27 36
  • 90.1 (n)
  • 91.58 (a)
ZFYVE27 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE27 36
  • 90.35 (n)
  • 92.21 (a)
ZFYVE27 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve27 36
  • 85.77 (n)
  • 88.29 (a)
Zfyve27 16
Zfyve27 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZFYVE27 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE27 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfyve27 36
  • 86.14 (n)
  • 88.12 (a)
chicken
(Gallus gallus)
Aves ZFYVE27 36
  • 70.32 (n)
  • 70.07 (a)
ZFYVE27 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE27 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve27 36
  • 65.4 (n)
  • 66.33 (a)
zebrafish
(Danio rerio)
Actinopterygii zfyve27 36
  • 59.35 (n)
  • 52.2 (a)
zfyve27 37
  • 45 (a)
OneToOne
Species with no ortholog for ZFYVE27:
  • 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 MAF
rs13389 -- 97,760,679(+) TTGCC(A/G)AGCCA utr-variant-3-prime
rs883324 -- 97,749,962(-) ACAGA(C/G)GGGTA intron-variant
rs946777 -- 97,749,939(-) ACAGA(C/G)ATGTG intron-variant
rs946778 -- 97,749,700(-) GTTGC(A/C)CTTGT intron-variant
rs1047537 -- 97,760,608(+) TCTAC(A/C)CTCGA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv272632 CNV Insertion 20981092

Relevant External Links for ZFYVE27 Gene

HapMap Linkage Disequilibrium report
ZFYVE27
Human Gene Mutation Database (HGMD)
ZFYVE27

Disorders for ZFYVE27 Gene

(1) OMIM Diseases for ZFYVE27 Gene (610243)

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.

(1) University of Copenhagen DISEASES for ZFYVE27 Gene

Relevant External Links for ZFYVE27

Genetic Association Database (GAD)
ZFYVE27
Human Genome Epidemiology (HuGE) Navigator
ZFYVE27
genes like me logo Genes that share disorders with ZFYVE27: view

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
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49
  5. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. (PMID: 16826525) Mannan A.U. … Engel W. (Am. J. Hum. Genet. 2006) 3 4

Products for ZFYVE27 Gene

  • antibodies-online peptides for ZFYVE27
  • antibodies-online antibodies for ZFYVE27
  • antibodies-online kits for ZFYVE27

Sources for ZFYVE27 Gene

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