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ANKRD27 ankyrin repeat domain 27 [ Homo sapiens (human) ]

Gene ID: 84079, updated on 17-Jun-2019

Summary

Official Symbol
ANKRD27provided by HGNC
Official Full Name
ankyrin repeat domain 27provided by HGNC
Primary source
HGNC:HGNC:25310
See related
Ensembl:ENSG00000105186
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VARP; PP12899
Expression
Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues See more
Orthologs

Genomic context

See ANKRD27 in Genome Data Viewer
Location:
19q13.11
Exon count:
30
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32597005..32675215, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33087907..33166102, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene dpy-19 like C-mannosyltransferase 3 Neighboring gene programmed cell death 5 Neighboring gene small nucleolar RNA, H/ACA box 68B Neighboring gene ribosomal protein S12 pseudogene 31 Neighboring gene RNA, 7SL, cytoplasmic 789, pseudogene Neighboring gene regulator of G protein signaling 9 binding protein Neighboring gene nudix hydrolase 19

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
GWAS identifies four novel eosinophilic esophagitis loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00040, DKFZp434L0718

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
early endosome to late endosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome to late endosome transport IDA
Inferred from Direct Assay
more info
PubMed 
endosome to melanosome transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of SNARE complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
retrograde transport, endosome to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde transport, endosome to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tubular endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tubular endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 27
Names
VPS9 domain-containing protein
VPS9-ankyrin-repeat protein
Vps9 domain and ankyrin-repeat-containing protein
ankyrin repeat domain 27 (VPS9 domain)

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.

mRNA and Protein(s)

  1. NM_032139.3NP_115515.2  ankyrin repeat domain-containing protein 27

    See identical proteins and their annotated locations for NP_115515.2

    Status: VALIDATED

    Source sequence(s)
    AA903176, AK054561
    Consensus CDS
    CCDS32986.1
    UniProtKB/Swiss-Prot
    Q96NW4
    Related
    ENSP00000304292.3, ENST00000306065.9
    Conserved Domains (4) summary
    cd00204
    Location:738863
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:780807
    ANK; ANK repeat [structural motif]
    pfam02204
    Location:264363
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl26073
    Location:567896
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    32597005..32675215 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027349.1XP_016882838.1  ankyrin repeat domain-containing protein 27 isoform X2

    Conserved Domains (5) summary
    cd00204
    Location:542667
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02204
    Location:68167
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam12796
    Location:585677
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:267319
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:584611
    ANK; ANK repeat [structural motif]
  2. XM_006723412.2XP_006723475.1  ankyrin repeat domain-containing protein 27 isoform X1

    See identical proteins and their annotated locations for XP_006723475.1

    UniProtKB/Swiss-Prot
    Q96NW4
    Conserved Domains (4) summary
    cd00204
    Location:738863
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:780807
    ANK; ANK repeat [structural motif]
    pfam02204
    Location:264363
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl26073
    Location:567896
    Ank_2; Ankyrin repeats (3 copies)
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