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    ZFYVE27 zinc finger, FYVE domain containing 27 [ Homo sapiens ]

    Gene ID: 118813, updated on 11-May-2012
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    Summary

    Official Symbol
    ZFYVE27provided by HGNC
    Official Full Name
    zinc finger, FYVE domain containing 27provided by HGNC
    Primary source
    HGNC:26559
    See related
    Ensembl:ENSG00000155256; HPRD:15735; MIM:610243; Vega:OTTHUMG00000018867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPG33; PROTRUDIN; RP11-459F3.2
    Summary
    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]
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    Genomic context

    Location :
    10q24.2
    Sequence :
    Chromosome: 10; NC_000010.10 (99496878..99520664)
    See ZFYVE27 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene arginine vasopressin-induced 1 Neighboring gene MARVEL domain containing 1 Neighboring gene secreted frizzled-related protein 5 Neighboring gene uncharacterized LOC100505561

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation. Matsuzaki F, et al. Mol Biol Cell, 2011 Dec. PMID 21976701.
    2. Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein. Saita S, et al. J Biol Chem, 2009 May 15. PMID 19289470.
    3. The role of ZFYVE27/protrudin in hereditary spastic paraplegia. Martignoni M, et al. Am J Hum Genet, 2008 Jul. PMID 18606302.
    4. Protrudin induces neurite formation by directional membrane trafficking. Shirane M, et al. Science, 2006 Nov 3. PMID 17082457.
    5. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Mannan AU, et al. Am J Hum Genet, 2006 Aug. PMID 16826525.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Protrudin-KIF5 complex contributes to the vesicular transport in neurons.
      Title: Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    3. VAP-A is an important regulator both of the subcellular localization of protrudin and of its ability to stimulate neurite outgrowth.
      Title: Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein.
    4. The role of ZFYVE27/protrudin in hereditary spastic paraplegia is reported.
      Title: The role of ZFYVE27/protrudin in hereditary spastic paraplegia.
    5. protrudin regulates Rab11-dependent membrane recycling to promote the directional membrane trafficking required for neurite formation [protrudin]
      Title: Protrudin induces neurite formation by directional membrane trafficking.
    6. Mutation affects neuronal intracellular trafficking in the corticospinal tract, which is consistent with the pathology of hereditary spastic paraplegia.
      Title: ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Spastic paraplegia 33, autosomal dominant

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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    nerve growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein localization in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    growth cone membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    protrudin
    Names
    protrudin
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017075.1 RefSeqGene

      Range
      5001..28787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002261.3 → NP_001002261.1  protrudin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK097945, AL358938, AL561314, AL834235, BF063694
      Consensus CDS
      CCDS31262.1
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000348593, ENST00000356257
      Conserved Domains (1) summary
      cd00065
      Location:354 – 412
      Blast Score: 124
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    2. NM_001002262.3 → NP_001002262.1  protrudin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, uses an alternate in-frame splice site in the middle portion of the coding region, and lacks an in-frame alternate exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AK074876, AL358938, AL561314, BC030621, BF063694, DC302372
      Consensus CDS
      CCDS31264.1
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000353069, OTTHUMP00000020231, ENST00000359980, OTTHUMT00000049748
      Conserved Domains (1) summary
      cd00065
      Location:342 – 400
      Blast Score: 124
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    3. NM_001174119.1 → NP_001167590.1  protrudin isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses two alternate in-frame splice sites, and lacks two in-frame alternate exons compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.
      Source sequence(s)
      AK074876, AK296588, AL358938, AL561314, BF063694, DC302372
      Consensus CDS
      CCDS53562.1
      UniProtKB/TrEMBL
      B7Z404
      UniProtKB/TrEMBL
      G8JLC3
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000337993, ENST00000337540
      Conserved Domains (1) summary
      cd00065
      Location:310 – 368
      Blast Score: 124
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    4. NM_001174120.1 → NP_001167591.1  protrudin isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate in-frame splice site, and lacks three in-frame alternate exons compared to variant 1. This results in a shorter protein (isoform e), compared to isoform a.
      Source sequence(s)
      AK097945, AL358938, BF063694, DC302372
      Consensus CDS
      CCDS53563.1
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000350148, ENST00000357540
      Conserved Domains (1) summary
      cd00065
      Location:256 – 314
      Blast Score: 121
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    5. NM_001174121.1 → NP_001167592.1  protrudin isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks three in-frame alternate exons compared to variant 1. This results in a shorter protein (isoform f), compared to isoform a.
      Source sequence(s)
      AK296295, AL358938, AL561314, BF063694, DC302372
      Consensus CDS
      CCDS53565.1
      UniProtKB/TrEMBL
      B7Z3S0
      UniProtKB/TrEMBL
      G8JLF0
      Related
      ENSP00000359642, ENST00000370610
      Conserved Domains (1) summary
      cd00065
      Location:249 – 307
      Blast Score: 116
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    6. NM_001174122.1 → NP_001167593.1  protrudin isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, uses an alternate in-frame splice site, and lacks four in-frame alternate exons compared to variant 1. This results in a shorter protein (isoform g), compared to isoform a.
      Source sequence(s)
      AK074876, AK299735, AL358938, BF063694, DC302372
      Consensus CDS
      CCDS53564.1
      UniProtKB/TrEMBL
      B7Z626
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000359646, ENST00000370613
      Conserved Domains (1) summary
      cd00065
      Location:224 – 282
      Blast Score: 125
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    7. NM_144588.6 → NP_653189.3  protrudin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AK074876, AL358938, AL561314, BC030621, BF063694, DC302372
      Consensus CDS
      CCDS31263.1
      UniProtKB/Swiss-Prot
      Q5T4F4
      Related
      ENSP00000377282, OTTHUMP00000020228, ENST00000393677, OTTHUMT00000049745
      Conserved Domains (1) summary
      cd00065
      Location:349 – 407
      Blast Score: 124
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      99496878..99520664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      93122130..93145914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL358938.8 CAI14270.1
      CAI14271.1
      CAI14272.1
    genomic CH471066.2 EAW49895.1
      EAW49896.1
      EAW49897.1
      EAW49898.1
      EAW49899.1
      EAW49900.1
      EAW49901.1
      EAW49902.1
    mRNA AK057481.1 BAB71506.1
    mRNA AK074876.1 BAC11260.1
    mRNA AK097945.1 BAC05200.1
    mRNA AK296295.1 BAH12306.1
    mRNA AK296588.1 BAH12390.1
    mRNA AK299735.1 BAH13112.1
    mRNA AK300438.1 BAH13285.1
    mRNA AL561314.3 None
    mRNA AL834235.1 CAD38913.2
    mRNA BC030621.2 AAH30621.2
    mRNA BF063694.1 None
    mRNA BF508037.1 None
    mRNA BI758753.1 None
    mRNA BM544601.1 None
    mRNA BU838354.1 None
    mRNA BX647836.1 None
    mRNA CB150532.1 None
    mRNA DC302372.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T4F4.1 GenPept UniProtKB/Swiss-Prot:Q5T4F4
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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