1. Gene
  2. ELMOD1 - ELMO domain containing 1 Gene

ELMOD1 - ELMO domain containing 1 Gene

中文名称:含 ELMO 域 1

种属: Homo sapiens

基因 ID: 55531 | 基因类型: protein coding

关于 ELMOD1

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:107,591,147-107,666,779 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues and 5 paralogues. Biased expression in brain (RPKM 21.6), skin (RPKM 11.2) and 2 other tissues.

功能概要

启用 GTPase 激活剂活动。预计参与 GTPase 活性的正向调节。 [由基因组资源联盟提供,2022 年 4 月]

Enables GTPase activator activity. Predicted to be involved in positive regulation of GTPase activity. [provided by Alliance of Genome Resources, Apr 2022]

ELMOD1 基因产物(3)

mRNA Protein Name
NM_001130037.2 NP_001123509.1 ELMO domain-containing protein 1 isoform 2
NM_001308018.2 NP_001294947.1 ELMO domain-containing protein 1 isoform 3
NM_018712.4 NP_061182.3 ELMO domain-containing protein 1 isoform 1

ELMOD1 蛋白结构

ELMO_CED12

ELMO_CED12: ELMO/CED-12 family (117 - 303)

  • 0
  • 100
  • 200
  • 300
  • 334 a.a.
蛋白主名 其他名称

ELMO domain-containing protein 1

ELMO/CED-12 domain containing 1

关联疾病

疾病名称 别名
Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

Acute Laryngitis

Acute Laryngitis Nos

Laryngeal Inflammation

Laryngitis Nos

Larynx Inflammation

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Macaca mulatta ELMOD1 VGNC VGNC:72109
Mus musculus ELMOD1 MGD MGI:3583900
Bos taurus ELMOD1 VGNC VGNC:28441
Rattus norvegicus ELMOD1 RGD RGD:1564186
Felis catus ELMOD1 VGNC VGNC:61818
Canis familiaris ELMOD1 VGNC VGNC:40312