Format

Send to:

Choose Destination

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

Gene ID: 84079, updated on 8-Jul-2021

Summary

Official Symbol
ANKRD27provided by HGNC
Official Full Name
ankyrin repeat domain 27provided by HGNC
Primary source
HGNC:HGNC:25310
See related
Ensembl:ENSG00000105186 MIM:618957
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ANKRD27 in Genome Data Viewer
Location:
19q13.11
Exon count:
30
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32597005..32675215, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33087912..33166086, 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
GWAS identifies four novel eosinophilic esophagitis loci.
GeneReviews: Not available

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
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in tubular endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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 Updated Annotation Release 109.20210514

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)
Support Center