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Aliases for ANKRD27 Gene

Aliases for ANKRD27 Gene

  • Ankyrin Repeat Domain 27 2 3 5
  • Vps9 Domain And Ankyrin-Repeat-Containing Protein 2 3
  • Ankyrin Repeat Domain 27 (VPS9 Domain) 2 3
  • VPS9 Domain-Containing Protein 3 4
  • VPS9-Ankyrin-Repeat Protein 3
  • PP12899 3
  • VARP 3

External Ids for ANKRD27 Gene

Previous GeneCards Identifiers for ANKRD27 Gene

  • GC00U913736
  • GC19M037751
  • GC19M037780
  • GC19M033087
  • GC19M029590

Summaries for ANKRD27 Gene

GeneCards Summary for ANKRD27 Gene

ANKRD27 (Ankyrin Repeat Domain 27) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. 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

Regulatory Elements for ANKRD27 Gene

Promoters for ANKRD27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD27 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD27 Gene

Chromosome:
19
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

Genes around ANKRD27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 257
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD27 Gene

Domains & Families for ANKRD27 Gene

Protein Domains for ANKRD27 Gene

Suggested Antigen Peptide Sequences for ANKRD27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96NW4

UniProtKB/Swiss-Prot:

ANR27_HUMAN :
  • Contains 1 VPS9 domain.
  • Contains 11 ANK repeats.
Domain:
  • Contains 1 VPS9 domain.
Similarity:
  • Contains 11 ANK repeats.
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:0000149 SNARE binding IBA --
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with ANKRD27: view
genes like me logo Genes that share phenotypes with ANKRD27: view

Animal Models for ANKRD27 Gene

MGI Knock Outs for ANKRD27:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 5
plasma membrane 5
vacuole 5
cytosol 3
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 16525121
GO:0005770 late endosome IDA 24856514
GO:0005829 cytosol IDA 16525121
GO:0042470 melanosome IEA --
GO:0097422 tubular endosome IDA 24856514
genes like me logo Genes that share ontologies with ANKRD27: view

Pathways & Interactions 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:0035544 negative regulation of SNARE complex assembly IDA 24856514
GO:0045022 early endosome to late endosome transport IDA 16525121
genes like me logo Genes that share ontologies with ANKRD27: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD27 Gene

Drugs & Compounds for ANKRD27 Gene

No Compound Related Data Available

Transcripts for ANKRD27 Gene

Unigene Clusters for ANKRD27 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for ANKRD27 Gene

This gene is overexpressed in Stomach (20.4), Peripheral blood mononuclear cells (14.2), Testis (13.0), and Placenta (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ANKRD27: view

Protein tissue co-expression partners for ANKRD27 Gene

Primer Products

In Situ Assay 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 ANKRD27 Gene

Orthologs for ANKRD27 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD27 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANKRD27 35
  • 86.93 (n)
  • 89.03 (a)
ANKRD27 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD27 35
  • 82.7 (n)
  • 82.26 (a)
ANKRD27 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd27 35
  • 81.12 (n)
  • 82.31 (a)
Ankrd27 16
Ankrd27 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKRD27 35
  • 99.11 (n)
  • 99.24 (a)
ANKRD27 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd27 35
  • 80.85 (n)
  • 81.87 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKRD27 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD27 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD27 35
  • 71.3 (n)
  • 74.15 (a)
ANKRD27 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD27 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd27 35
  • 63.74 (n)
  • 63.57 (a)
zebrafish
(Danio rerio)
Actinopterygii wu:fc41e04 35
  • 67.99 (n)
  • 67.27 (a)
ANKRD27 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5456 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003151 35
  • 43.9 (n)
  • 28.84 (a)
worm
(Caenorhabditis elegans)
Secernentea Y106G6H.14 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs2287669 - 32,619,298(-) CAGCC(A/G)GCTCA reference, missense
rs2302970 - 32,607,726(-) CATCC(A/C/G)CCTCC reference, missense
rs4207 -- 32,597,164(+) TTTCC(-/CTAT)CTATC utr-variant-3-prime
rs10553 -- 32,597,135(-) GGAAA(C/T)ACTTG utr-variant-3-prime
rs259216 -- 32,648,015(-) gtgct(C/T)ggatt 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

Variation tolerance for ANKRD27 Gene

Residual Variation Intolerance Score: 9.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.77; 83.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD27 Gene

HapMap Linkage Disequilibrium report
ANKRD27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD27 Gene

Disorders for ANKRD27 Gene

Relevant External Links for ANKRD27

Genetic Association Database (GAD)
ANKRD27
Human Genome Epidemiology (HuGE) Navigator
ANKRD27
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD27

No disorders were found for ANKRD27 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. VARP is recruited on to endosomes by direct interaction with retromer, where together they function in export to the cell surface. (PMID: 24856514) Hesketh G.G. … Owen D.J. (Dev. Cell 2014) 3
  4. GWAS identifies four novel eosinophilic esophagitis loci. (PMID: 25407941) Sleiman P.M. … Hakonarson H. (Nat Commun 2014) 3
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3

Products for ANKRD27 Gene

Sources for ANKRD27 Gene

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