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

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

中文名称:含 pleckstrin 同源性、MyTH4 和 FERM 结构域 H1

种属: Homo sapiens

基因 ID: 57475 | 基因类型: protein coding

关于 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.

功能概要

预计位于细胞骨架中。 [由基因组资源联盟提供,2022 年 4 月]

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

PLEKHH1 基因产物(1)

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

PLEKHH1 蛋白结构

PH

PH: PH domain (580 - 672)

MyTH4

MyTH4: MyTH4 domain (877 - 985)

FERM_M

FERM_M: FERM central domain (1107 - 1230)

  • 0
  • 300
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  • 900
  • 1200
  • 1364 a.a.
蛋白主名 其他名称

pleckstrin homology domain-containing family H member 1

PH domain-containing family H member 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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