PLEKHH1 - pleckstrin homology, MyTH4 and FERM domain containing H1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57475

About PLEKHH1

This gene has 16 transcripts (splice variants), 192 orthologues and 1 paralogue. Biased expression in thyroid (RPKM 29.6), brain (RPKM 19.8) and 13 other tissues.

Summary

Predicted to be located in Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHH1 Products (1)

mRNA Protein Name
NM_020715.3 NP_065766.1 pleckstrin homology domain-containing family H member 1

PLEKHH1 Protein Structure

PH

PH: PH domain (580 - 672)

MyTH4

MyTH4: MyTH4 domain (877 - 985)

FERM_M

FERM_M: FERM central domain (1107 - 1230)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1364 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family H member 1

  • PH domain-containing family H member 1

Related Diseases

Diseases Alias
Lice Infestation
  • Pediculosis

  • Louse Infestation

  • Mixed Pediculosis

  • Lice Infestations

  • Infestation By Pediculus

  • Mixed Pediculosis Infestation

  • Pediculosis + Lice

  • Pediculosis And Phthirus Infection

  • Pediculosis And Phthirus Infections

  • Pediculosis And Phthirus Infestation

  • Infestation By Anoplura

  • Pediculus Infestation

  • Lice Nos

Mowat-Wilson Syndrome
  • MOWS

  • Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

  • Hirschsprung Disease-Mental Retardation Syndrome

  • Mowat-Wilson Syndrome Due To Monosomy 2q22

  • Hirschsprung Disease Mental Retardation Syndrome

  • Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

  • Hirschsprung Disease - Intellectual Disability Syndrome

  • Hirschsprung Disease Intellectual Disability Syndrome

  • Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

  • Mws

  • Hirschsprung Disease-Intellectual Disability Syndrome

  • Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

  • Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

  • Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

  • Mowat-Wilson Syndrome Due To 2q22 Microdeletion

  • Mowat-Wilson Syndrome Due To Del(2)Q(22)

  • Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

  • Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

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 PLEKHH1 VGNC VGNC:33020
Felis catus PLEKHH1 VGNC VGNC:64233
Canis familiaris PLEKHH1 VGNC VGNC:44682
Mus musculus PLEKHH1 MGD MGI:2144989
Rattus norvegicus PLEKHH1 RGD RGD:1308362
Macaca mulatta PLEKHH1 VGNC VGNC:76053
Others PLEKHH1 NCBI