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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
  • Ankyrin Repeat Domain-Containing Protein 27 3
  • 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. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (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). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).

Gene Wiki entry for ANKRD27 Gene

Additional gene information for ANKRD27 Gene

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

Genomics for ANKRD27 Gene

GeneHancer (GH) Regulatory Elements for ANKRD27 Gene

Promoters and enhancers for ANKRD27 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I032674 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 576.4 +1.2 1199 2.5 HDGF PKNOX1 CLOCK ARID4B SIN3A ZNF2 YY1 ZNF213 ZNF416 ZNF143 ANKRD27 RGS9BP GC19P032679 PIR59221 GPATCH1 ZNF507 CEP89 FAAP24 PDCD5 ENSG00000267557
GH19I032677 Enhancer 0.6 ENCODE 576.3 -0.9 -910 1 CTCF HLF SP2 ZBTB8A ATF2 BCL11B GLIS2 BCL11A GLIS1 ZNF341 ANKRD27 GC19P032679 PIR59221 RGS9BP GC19P032683 NUDT19
GH19I032580 Promoter/Enhancer 1.5 Ensembl ENCODE 19.3 +95.1 95061 2.3 HDGF SIN3A DMAP1 ZNF2 POLR2B ZNF766 ZNF213 ZNF207 ZNF143 KLF13 PDCD5 GPATCH1 CEP89 ANKRD27 SNORA68B ZNF507 GC19P032685
GH19I032651 Enhancer 1 FANTOM5 ENCODE 24.6 +23.4 23357 3.1 CTCF ZNF473 FEZF1 ZIC2 RAD21 YY1 HIC1 ZNF335 ZNF121 ZFHX2 ANKRD27 ZNF507 GPATCH1 CEP89 WDR88 PDCD5 NUDT19 RGS9BP RN7SL789P GC19M032613
GH19I032671 Enhancer 0.9 ENCODE 26.3 +4.7 4728 1.4 PKNOX1 ATF1 TCF12 ZNF121 ZNF766 GATA2 ATF7 RUNX3 NCOA1 ZNF592 ANKRD27 SNORA68B RGS9BP ENSG00000267557 NUDT19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD27 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD27 gene promoter:

Genomic Locations for ANKRD27 Gene

Genomic Locations for ANKRD27 Gene
chr19:32,597,001-32,676,597
(GRCh38/hg38)
Size:
79,597 bases
Orientation:
Minus strand
chr19:33,087,907-33,167,503
(GRCh37/hg19)

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, PubMed:21808068). A decreased interaction with RAB32 seen in the presence of SGSM2 (PubMed:21808068).
    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

Post-translational modifications for ANKRD27 Gene

  • Ubiquitination at Lys257
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD27 Gene

Domains & Families for ANKRD27 Gene

Gene Families for ANKRD27 Gene

Suggested Antigen Peptide Sequences for ANKRD27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).

Phenotypes From GWAS Catalog for ANKRD27 Gene

Gene Ontology (GO) - Molecular Function for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005085 guanyl-nucleotide exchange factor activity IDA 16525121
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 16525121
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
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:

Clone 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 hippocampal neurons (By similarity). {ECO:0000250 UniProtKB:Q3UMR0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD27 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 5
endosome 5
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 24856514
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 16525121
GO:0005770 late endosome IEA,IDA 24856514
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ANKRD27: view

Pathways & Interactions for ANKRD27 Gene

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

Pathways by source for ANKRD27 Gene

Gene Ontology (GO) - Biological Process for ANKRD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0035544 negative regulation of SNARE complex assembly IDA 24856514
GO:0035646 endosome to melanosome transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ANKRD27: view

No data available for 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANKRD27 Gene



Protein tissue co-expression partners for ANKRD27 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD27 Gene:

ANKRD27

SOURCE GeneReport for Unigene cluster for ANKRD27 Gene:

Hs.59236

Evidence on tissue expression from TISSUES for ANKRD27 Gene

  • Spleen(4.2)
genes like me logo Genes that share expression patterns with ANKRD27: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD27 33 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia ANKRD27 33 34
  • 86.93 (n)
dog
(Canis familiaris)
Mammalia ANKRD27 33 34
  • 82.7 (n)
mouse
(Mus musculus)
Mammalia Ankrd27 33 16 34
  • 81.12 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd27 33
  • 80.85 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD27 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD27 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD27 33 34
  • 71.3 (n)
lizard
(Anolis carolinensis)
Reptilia ANKRD27 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd27 33
  • 63.74 (n)
zebrafish
(Danio rerio)
Actinopterygii wu:fc41e04 33
  • 67.99 (n)
ANKRD27 34
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5456 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003151 33
  • 43.9 (n)
worm
(Caenorhabditis elegans)
Secernentea Y106G6H.14 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for ANKRD27 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs774841433 uncertain-significance, not specified 32,676,574(-) C/T upstream_transcript_variant
rs150936907 benign, not specified 32,676,959(-) G/A upstream_transcript_variant
rs259290 benign, not specified 32,676,549(-) G/A/T upstream_transcript_variant
rs259291 benign, not specified 32,676,973(-) G/A upstream_transcript_variant
rs35413309 benign, not specified 32,676,931(-) C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3644175 CNV loss 21293372
nsv1113998 CNV deletion 24896259
nsv527490 CNV loss 19592680

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)

Additional Variant Information for ANKRD27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD27

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

Disorders for ANKRD27 Gene

Additional Disease Information for ANKRD27

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

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 (Journal of cell science 2006) 2 3 4 58
  2. VARP is recruited on to endosomes by direct interaction with retromer, where together they function in export to the cell surface. (PMID: 24856514) Hesketh GG … Owen DJ (Developmental cell 2014) 3 4 58
  3. A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery. (PMID: 22705394) Burgo A … Galli T (Developmental cell 2012) 3 4 58
  4. The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation. (PMID: 23104059) Schäfer IB … Owen DJ (Nature structural & molecular biology 2012) 3 4 58
  5. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for ANKRD27 Gene

Sources for ANKRD27 Gene

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