• Gene id: 84079

Gene Summary

• Gene Symbol: ANKRD27   Gene   UCSC   Ensembl
• Aliases: PP12899, VARP
• Gene name: ankyrin repeat domain 27
• Alternate names: ankyrin repeat domain-containing protein 27, VPS9 domain-containing protein, VPS9-ankyrin-repeat protein, Vps9 domain and ankyrin-repeat-containing protein, ankyrin repeat domain 27 (VPS9 domain),
• Gene location: 19q13.11 (145835368: 145587324)     Exons: 14     NC_000005.10

Protein Summary

• Protein general information: Q96NW4  
  • Name: Ankyrin repeat domain containing protein 27 (VPS9 domain containing protein)
  • Length: 1050  
  • Mass: 116984
• Sequence:

  MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNGKDVFI
  QGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSE
  RFDRNIASFHRTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIF
  KYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSPQQKLVCLRKVVQLITQSPSQ
  RVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIEYIRQGSLSAKPPESE
  GFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQEDHDKDTVQKMCHPLCFCDDCEKLVSGRLND
  PSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVNATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQ
  DNNGNTPLHLACTYGHEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKET
  PLKCALNSKILSVMEAYHLSFERRQKSSEAPVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLR
  AVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKCAPAQKRLAKVPASGLGVNVTSQDGSSPLHV
  AALHGRADLIPLLLKHGANAGARNADQAVPLHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHEL
  VALLLQHGASINASNNKGNTALHEAVIEKHVFVVELLLLHGASVQVLNKRQRTAVDCAEQNSKIMELLQVVPSCV
  ASLDDVAETDRKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARDRSVPNLTEGSLHEPG
  RQSVTLRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLRRHTVEDAVVSQGPEAAGPLSTPQEVSASRS

• Structural information:
  • Protein Domains: (233..37-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR003123  IPR037191  
  • Prosite: PS50297 PS50088 PS51205
  • PDB: 4B93 4CYM 4CZ2
  • PDBsum: 4B93 4CYM 4CZ2
  • DIP: 57614
  • STRING: ENSP00000304292
• Other Databases: GeneCards:  ANKRD27  Malacards:  ANKRD27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990126	retrograde transport, endosome to plasma membrane	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0097422	tubular endosome	IBA	cellular component
GO:0048812	neuron projection morphogenesis	IBA	biological process
GO:0045022	early endosome to late endosome transport	IBA	biological process
GO:0030133	transport vesicle	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005770	late endosome	IBA	cellular component
GO:0005769	early endosome	IBA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0000149	SNARE binding	IBA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0035544	negative regulation of SNARE complex assembly	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0097422	tubular endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045022	early endosome to late endosome transport	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0035646	endosome to melanosome transport	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0050775	positive regulation of dendrite morphogenesis	IEA	biological process
GO:0000149	SNARE binding	IEA	molecular function
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0000149	SNARE binding	IEA	molecular function
GO:0030133	transport vesicle	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray