WIPI1 - WD repeat domain, phosphoinositide interacting 1 Gene

Also Known as ATG18; ATG18A; WIPI49

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55062

About WIPI1

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,421,281-68,457,496 (from NCBI)

This gene has 11 transcripts (splice variants), 256 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 11.9), heart (RPKM 11.3) and 25 other tissues.

Summary

This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with Phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

WIPI1 Products (2)

mRNA Protein Name
NM_001320772.2 NP_001307701.1 WD repeat domain phosphoinositide-interacting protein 1 isoform b
NM_017983.7 NP_060453.3 WD repeat domain phosphoinositide-interacting protein 1 isoform a

WIPI1 Protein Structure

WD40

WD40: WD domain, G-beta repeat (179 - 210)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 446 a.a.
Protein Preferred Names Protein Names

WD repeat domain phosphoinositide-interacting protein 1

  • WIPI-1 alpha

WIPI1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81976 WIPI1 Antibody (YA1721) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Neurodegeneration With Brain Iron Accumulation 5
  • NBIA5

  • Beta-Propeller Protein-Associated Neurodegeneration

  • Bpan

  • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

  • Senda

  • Neurodegeneration With Brain Iron Accumulation Type 5

  • Neurodegeneration With Brain Iron Accululation 5

  • Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

  • Neurodegeneration, With Brain Iron Accululation, Type 5

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

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

Orthologs Information

Species Symbol Source ID
Bos taurus WIPI1 VGNC VGNC:36942
Mus musculus WIPI1 MGD MGI:1261864
Felis catus WIPI1 VGNC VGNC:67074
Rattus norvegicus WIPI1 RGD RGD:1307754
Macaca mulatta WIPI1 VGNC VGNC:79497
Canis familiaris WIPI1 VGNC VGNC:48412
Others WIPI1 NCBI