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Aliases for ANKRD27 Gene

Aliases for ANKRD27 Gene

  • Ankyrin Repeat Domain 27 (VPS9 Domain) 2 3
  • Vps9 Domain And Ankyrin-Repeat-Containing Protein 2 3
  • VPS9 Domain-Containing Protein 3 4
  • Ankyrin Repeat Domain-Containing Protein 27 3
  • VPS9-Ankyrin-Repeat Protein 3
  • PP12899 3
  • VARP 3

External Ids for ANKRD27 Gene

Summaries for ANKRD27 Gene

GeneCards Summary for ANKRD27 Gene

ANKRD27 (Ankyrin Repeat Domain 27 (VPS9 Domain)) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is OSTF1.

UniProtKB/Swiss-Prot for ANKRD27 Gene

  • May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514).

Gene Wiki entry for ANKRD27 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD27 Gene

Genomics for ANKRD27 Gene

Genomic Location for ANKRD27 Gene

Start:
32,597,001 bp from pter
End:
32,676,597 bp from pter
Size:
79,597 bases
Orientation:
Minus strand

Genomic View for ANKRD27 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKRD27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD27 Gene

Regulatory Elements for ANKRD27 Gene

Proteins for ANKRD27 Gene

  • Protein details for ANKRD27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NW4-ANR27_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 27
    Protein Accession:
    Q96NW4
    Secondary Accessions:
    • Q71MF5
    • Q86UC3
    • Q8ND80
    • Q9H0I4

    Protein attributes for ANKRD27 Gene

    Size:
    1050 amino acids
    Molecular mass:
    116984 Da
    Quaternary structure:
    • Interacts with RAB21 (GDP-bound form), VPS29, RAB32 (GTP-bound form), RAB38 (GTP-bound form), VAMP7, KIF5A, KIF5C, GOLGA4. Interacts with low affinity with RAB5. ANKRD27:RAB32 heterodimers can homodimerize to form tetramers. Can interact with RAB38 or RAB32, VPS29 and VAMP7 simultaneously (PubMed:16525121, PubMed:18477474, PubMed:19745841, PubMed:22705394, PubMed:23104059, PubMed:24856514).
    SequenceCaution:
    • Sequence=BAB70755.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANKRD27 Gene

neXtProt entry for ANKRD27 Gene

Proteomics data for ANKRD27 Gene at MOPED

Post-translational modifications for ANKRD27 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys257

No data available for DME Specific Peptides for ANKRD27 Gene

Domains for ANKRD27 Gene

Gene Families for ANKRD27 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for ANKRD27 Gene

UniProtKB/Swiss-Prot:

ANR27_HUMAN
Domain:
  • Contains 1 VPS9 domain.:
    • Q96NW4
Similarity:
  • Contains 11 ANK repeats.:
    • Q96NW4
genes like me logo Genes that share domains with ANKRD27: view

Function for ANKRD27 Gene

Molecular function for ANKRD27 Gene

UniProtKB/Swiss-Prot Function: May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514).

Gene Ontology (GO) - Molecular Function for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 16525121
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 16525121
GO:0017137 Rab GTPase binding IDA 16525121
genes like me logo Genes that share ontologies with ANKRD27: view

miRNA for ANKRD27 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ANKRD27 Gene

Localization for ANKRD27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD27 Gene

Early endosome. Late endosome. Cytoplasmic vesicle membrane. Lysosome. Cell membrane. Melanosome. Note=Colocalizes with VAMP7 in transport vesicles in the shaft of hippoocampal neurons (By similarity). {ECO:0000250 UniProtKB:Q3UMR0}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD27 Gene COMPARTMENTS Subcellular localization image for ANKRD27 gene
Compartment Confidence
endosome 5
lysosome 4
vacuole 4
plasma membrane 3
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IDA --
GO:0005769 early endosome IDA 16525121
GO:0005770 late endosome IDA 24856514
GO:0005886 plasma membrane IDA 24856514
genes like me logo Genes that share ontologies with ANKRD27: view

Pathways for ANKRD27 Gene

SuperPathways for ANKRD27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0035544 negative regulation of SNARE complex assembly IDA 24856514
GO:0043547 positive regulation of GTPase activity IEA --
GO:0045022 early endosome to late endosome transport IDA 16525121
GO:1990126 retrograde transport, endosome to plasma membrane IMP 24856514
genes like me logo Genes that share ontologies with ANKRD27: view

No data available for Pathways by source for ANKRD27 Gene

Transcripts for ANKRD27 Gene

Unigene Clusters for ANKRD27 Gene

Ankyrin repeat domain 27 (VPS9 domain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD27 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2:
SP3:

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b
SP1: -
SP2:
SP3:

Relevant External Links for ANKRD27 Gene

GeneLoc Exon Structure for
ANKRD27
ECgene alternative splicing isoforms for
ANKRD27

Expression for ANKRD27 Gene

mRNA expression in normal human tissues for ANKRD27 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKRD27 Gene

SOURCE GeneReport for Unigene cluster for ANKRD27 Gene Hs.59236

genes like me logo Genes that share expressions with ANKRD27: view

Orthologs for ANKRD27 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD27 36
  • 99.11 (n)
  • 99.24 (a)
ANKRD27 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD27 36
  • 86.93 (n)
  • 89.03 (a)
ANKRD27 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD27 36
  • 82.7 (n)
  • 82.26 (a)
ANKRD27 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd27 36
  • 81.12 (n)
  • 82.31 (a)
Ankrd27 16
Ankrd27 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD27 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD27 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd27 36
  • 80.85 (n)
  • 81.87 (a)
chicken
(Gallus gallus)
Aves ANKRD27 36
  • 71.3 (n)
  • 74.15 (a)
ANKRD27 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD27 37
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd27 36
  • 63.74 (n)
  • 63.57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5456 36
zebrafish
(Danio rerio)
Actinopterygii ANKRD27 37
  • 65 (a)
OneToOne
wu:fc41e04 36
  • 67.99 (n)
  • 67.27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003151 36
  • 43.9 (n)
  • 28.84 (a)
worm
(Caenorhabditis elegans)
Secernentea Y106G6H.14 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToOne
Species with no ortholog for ANKRD27:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ANKRD27 Gene

ENSEMBL:
Gene Tree for ANKRD27 (if available)
TreeFam:
Gene Tree for ANKRD27 (if available)

Paralogs for ANKRD27 Gene

Paralogs for ANKRD27 Gene

genes like me logo Genes that share paralogs with ANKRD27: view

Variants for ANKRD27 Gene

Sequence variations from dbSNP and Humsavar for ANKRD27 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs4207 -- 32,597,164(+) TTTCC(-/CTAT)CTATC utr-variant-3-prime
rs10553 -- 32,597,135(-) GGAAA(C/T)ACTTG utr-variant-3-prime
rs171824 -- 32,650,754(-) aaaaa(A/T)aaata intron-variant
rs174083 -- 32,650,274(-) acgcc(C/T)ggccA intron-variant
rs194588 -- 32,646,957(-) TGCCA(C/G)GTACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD27 Gene

Variant ID Type Subtype PubMed ID
nsv527490 CNV Loss 19592680
dgv3838n71 CNV Loss 21882294

Relevant External Links for ANKRD27 Gene

HapMap Linkage Disequilibrium report
ANKRD27

Disorders for ANKRD27 Gene

Relevant External Links for ANKRD27

Genetic Association Database (GAD)
ANKRD27
Human Genome Epidemiology (HuGE) Navigator
ANKRD27
genes like me logo Genes that share disorders with ANKRD27: view

No data available for UniProtKB/Swiss-Prot for ANKRD27 Gene

Publications for ANKRD27 Gene

  1. Varp is a Rab21 guanine nucleotide exchange factor and regulates endosome dynamics. (PMID: 16525121) Zhang X. … Chang Z. (J. Cell. Sci. 2006) 2 3 4
  2. Varp interacts with Rab38 and functions as its potential effector. (PMID: 18477474) Wang F. … Chang Z. (Biochem. Biophys. Res. Commun. 2008) 3 4
  3. Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth. (PMID: 19745841) Burgo A. … Galli T. (EMBO Rep. 2009) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  5. The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation. (PMID: 23104059) SchAofer I.B. … Owen D.J. (Nat. Struct. Mol. Biol. 2012) 3 4

Products for ANKRD27 Gene

Sources for ANKRD27 Gene

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