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ZFYVE27 zinc finger FYVE-type containing 27 [ Homo sapiens (human) ]

Gene ID: 118813, updated on 3-Jun-2018
Official Symbol
ZFYVE27provided by HGNC
Official Full Name
zinc finger FYVE-type containing 27provided by HGNC
Primary source
HGNC:HGNC:26559
See related
Ensembl:ENSG00000155256 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
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]
Expression
Ubiquitous expression in small intestine (RPKM 6.9), duodenum (RPKM 6.9) and 25 other tissues See more
Orthologs
See ZFYVE27 in Genome Data Viewer
Location:
10q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (97737121..97760907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99496878..99520664)

Chromosome 10 - NC_000010.11Genomic 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 LOC107984260 Neighboring gene long intergenic non-protein coding RNA 866

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum tubular network formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
neurotrophin TRK receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
PubMed 
growth cone membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
protrudin
Names
spastic paraplegia 33 protein
zinc finger FYVE domain containing 27

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_001002261.3NP_001002261.1  protrudin isoform a

    See identical proteins and their annotated locations for NP_001002261.1

    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
    Conserved Domains (1) summary
    cd15723
    Location:354414
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  2. NM_001002262.3NP_001002262.1  protrudin isoform c

    See identical proteins and their annotated locations for NP_001002262.1

    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
    ENSP00000353069.3, OTTHUMP00000020231, ENST00000359980.5, OTTHUMT00000049748
    Conserved Domains (1) summary
    cd15723
    Location:342402
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  3. NM_001174119.1NP_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/Swiss-Prot
    Q5T4F4
    Related
    ENSP00000337993.7, ENST00000337540.11
    Conserved Domains (1) summary
    cd15723
    Location:310370
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  4. NM_001174120.1NP_001167591.1  protrudin isoform e

    See identical proteins and their annotated locations for NP_001167591.1

    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
    ENSP00000350148.4, ENST00000357540.8
    Conserved Domains (1) summary
    cd15723
    Location:256316
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  5. NM_001174121.1NP_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/Swiss-Prot
    Q5T4F4
    Related
    ENSP00000359642.3, ENST00000370610.7
    Conserved Domains (1) summary
    cd15723
    Location:249309
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  6. NM_001174122.1NP_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/Swiss-Prot
    Q5T4F4
    Related
    ENSP00000359646.3, ENST00000370613.7
    Conserved Domains (1) summary
    cd15723
    Location:224284
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  7. NM_144588.6NP_653189.3  protrudin isoform b

    See identical proteins and their annotated locations for NP_653189.3

    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
    ENSP00000377282.3, OTTHUMP00000020228, ENST00000393677.8, OTTHUMT00000049745
    Conserved Domains (1) summary
    cd15723
    Location:349409
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    97737121..97760907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269511.3XP_005269568.1  protrudin isoform X10

    See identical proteins and their annotated locations for XP_005269568.1

    Conserved Domains (1) summary
    cd15723
    Location:268328
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  2. XM_017015655.1XP_016871144.1  protrudin isoform X11

  3. XM_005269508.4XP_005269565.1  protrudin isoform X15

    See identical proteins and their annotated locations for XP_005269565.1

    Conserved Domains (1) summary
    cd15723
    Location:275335
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  4. XM_017015651.2XP_016871140.1  protrudin isoform X16

  5. XM_017015653.2XP_016871142.1  protrudin isoform X17

  6. XM_011539255.2XP_011537557.1  protrudin isoform X13

    See identical proteins and their annotated locations for XP_011537557.1

    Conserved Domains (1) summary
    cd15723
    Location:286346
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  7. XM_005269510.3XP_005269567.1  protrudin isoform X10

    See identical proteins and their annotated locations for XP_005269567.1

    Conserved Domains (1) summary
    cd15723
    Location:268328
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  8. XM_017015649.1XP_016871138.1  protrudin isoform X12

  9. XM_017015648.1XP_016871137.1  protrudin isoform X11

  10. XM_005269503.3XP_005269560.1  protrudin isoform X1

    See identical proteins and their annotated locations for XP_005269560.1

    UniProtKB/Swiss-Prot
    Q5T4F4
    Related
    ENSP00000409594.2, OTTHUMP00000020230, ENST00000423811.3, OTTHUMT00000049747
    Conserved Domains (1) summary
    cd15723
    Location:354414
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  11. XM_017015647.1XP_016871136.1  protrudin isoform X3

    Conserved Domains (1) summary
    cd15723
    Location:347407
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  12. XM_005269509.3XP_005269566.1  protrudin isoform X15

    See identical proteins and their annotated locations for XP_005269566.1

    Conserved Domains (1) summary
    cd15723
    Location:275335
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  13. XM_017015652.1XP_016871141.1  protrudin isoform X16

  14. XM_017015654.1XP_016871143.1  protrudin isoform X17

  15. XM_005269502.3XP_005269559.1  protrudin isoform X1

    See identical proteins and their annotated locations for XP_005269559.1

    UniProtKB/Swiss-Prot
    Q5T4F4
    Conserved Domains (1) summary
    cd15723
    Location:354414
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  16. XM_005269505.4XP_005269562.1  protrudin isoform X3

    Conserved Domains (1) summary
    cd15723
    Location:347407
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  17. XM_005269504.3XP_005269561.1  protrudin isoform X2

    See identical proteins and their annotated locations for XP_005269561.1

    UniProtKB/Swiss-Prot
    Q5T4F4
    Conserved Domains (1) summary
    cd15723
    Location:349409
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  18. XM_005269506.3XP_005269563.1  protrudin isoform X4

    See identical proteins and their annotated locations for XP_005269563.1

    UniProtKB/Swiss-Prot
    Q5T4F4
    Conserved Domains (1) summary
    cd15723
    Location:342402
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  19. XM_011539254.2XP_011537556.1  protrudin isoform X13

    See identical proteins and their annotated locations for XP_011537556.1

    Conserved Domains (1) summary
    cd15723
    Location:286346
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  20. XM_017015650.1XP_016871139.1  protrudin isoform X14

    UniProtKB/TrEMBL
    A0A0S2Z627
    Conserved Domains (1) summary
    cd15723
    Location:281341
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  21. XM_011539253.2XP_011537555.1  protrudin isoform X6

    Conserved Domains (1) summary
    cd15723
    Location:347389
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  22. XM_011539252.2XP_011537554.1  protrudin isoform X5

    Conserved Domains (1) summary
    cd15723
    Location:354396
    FYVE_protrudin; FYVE-related domain found in protrudin and similar proteins
  23. XM_017015644.1XP_016871133.1  protrudin isoform X7

  24. XM_017015645.1XP_016871134.1  protrudin isoform X8

  25. XM_017015646.1XP_016871135.1  protrudin isoform X9

    UniProtKB/TrEMBL
    B7Z6J9

RNA

  1. XR_002956957.1 RNA Sequence

  2. XR_945597.2 RNA Sequence

  3. XR_002956956.1 RNA Sequence

  4. XR_945594.2 RNA Sequence

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