ANKRD27 - ankyrin repeat domain 27 Gene

Also Known as VARP; PP12899

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84079

About ANKRD27

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,597,006-32,675,180 (from NCBI)

This gene has 9 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in endosome; lysosome; and plasma membrane. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Apr 2022]

ANKRD27 Products (1)

mRNA	Protein	Name
NM_032139.3	NP_115515.2	ankyrin repeat domain-containing protein 27

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	16525121	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16525121	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	16525121	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within early endosome to late endosome transport	IDA IDA: Inferred from direct assay	16525121	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	24856514	GOA
involved in negative regulation of SNARE complex assembly	IDA IDA: Inferred from direct assay	24856514	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in early endosome	IDA IDA: Inferred from direct assay	16525121	GOA
located in late endosome	IDA IDA: Inferred from direct assay	24856514	GOA
located in lysosome	IDA IDA: Inferred from direct assay	24856514	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24856514	GOA
located in tubular endosome	IDA IDA: Inferred from direct assay	24856514	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKRD27 Protein Structure

VPS9

Ank_2

Ank

Ank_2

0
200
400
600
800
1000
1050 a.a.

Protein Preferred Names	Protein Names
ankyrin repeat domain-containing protein 27	VPS9 domain-containing protein

ANKRD27 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ANKRD27	Q96NW4	GOLGA4	Homo sapiens	Q13439	Y2H Fragment Pooling	22705394
Cross	ANKRD27	Q96NW4	Kif5a	Mus musculus	P33175	Anti Bait CoIP	22705394
Cross	ANKRD27	Q96NW4	Kif5a	Mus musculus	P33175	Anti Tag CoIP	22705394
Intra	ANKRD27	Q96NW4	KIF5A	Homo sapiens	Q12840	Anti Tag CoIP	22705394

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Esophagitis	Acute Esophagitis
Parastremmatic Dwarfism	Parastremmatic Dysplasia PSTD Dwarfism, Parastremmatic
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00720	ANKRD27 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ANKRD27	VGNC	VGNC:59804
Canis familiaris	ANKRD27	VGNC	VGNC:37892
Rattus norvegicus	ANKRD27	RGD	RGD:1307106
Mus musculus	ANKRD27	MGD	MGI:2444103
Bos taurus	ANKRD27	VGNC	VGNC:25919
Macaca mulatta	ANKRD27	VGNC	VGNC:69693
Others	ANKRD27	NCBI