1. Gene
  2. EFL1 - elongation factor like GTPase 1 Gene

EFL1 - elongation factor like GTPase 1 Gene

中文名称:延伸因子样 GTPase 1

种属: Homo sapiens

同用名: RIA1; SDS2; EFTUD1; FAM42A; HsT19294

基因 ID: 79631 | 基因类型: protein coding

关于 EFL1

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,130,233-82,262,734 (from NCBI)

This gene has 17 transcripts (splice variants), 219 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.4), small intestine (RPKM 6.4) and 25 other tissues.

功能概要

启用 GTPase 活性和核糖体结合活性。参与 GTP 代谢过程和成熟核糖体组装。预计是核糖核蛋白复合物的一部分。与 Shwachman-Diamond 综合征有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022]

EFL1 基因产物(4)

mRNA Protein Name
NM_001040610.3 NP_001035700.1 elongation factor-like GTPase 1 isoform 2
NM_001322844.2 NP_001309773.1 elongation factor-like GTPase 1 isoform 3
NM_001322845.2 NP_001309774.1 elongation factor-like GTPase 1 isoform 1
NM_024580.6 NP_078856.4 elongation factor-like GTPase 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activity IDA
IDA: 通过直接分析推断
21536732 GOA
enables ribosome binding IMP
IMP: 通过突变表型推断
21536732 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GTP metabolic process IDA
IDA: 通过直接分析推断
21536732 GOA
involved in cytosolic ribosome assembly IMP
IMP: 通过突变表型推断
21536732 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EFL1 蛋白结构

GTP_EFTU

GTP_EFTU: Elongation factor Tu GTP binding domain (18 - 255)

GTP_EFTU_D2

GTP_EFTU_D2: Elongation factor Tu domain 2 (505 - 599)

EFG_II

EFG_II: Elongation Factor G, domain II (615 - 678)

EFG_C

EFG_C: Elongation factor G C-terminus (980 - 1064)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1120 a.a.
蛋白主名 其他名称

elongation factor-like GTPase 1

elongation factor Tu GTP binding domain containing 1

关联疾病

疾病名称 别名
Shwachman-Diamond Syndrome 2

SDS2

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Exocrine Pancreatic Insufficiency
Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Trichothiodystrophy 4, Nonphotosensitive

Amish Brittle Hair Brain Syndrome

TTD4

Trichothiodystrophy, Nonphotosensitive 1

Hair-Brain Syndrome

Bids Syndrome

Ttdn1

Abhs

Pollitt Syndrome

Trichothiodystrophy-Neurocutaneous Syndrome

Nonphotosensitive Trichothiodystrophy 4

Trichorrhexis Nodosa Syndrome

Trichothiodystrophy 4, Non-Photosensitive

Trichothiodystrophy Non-Photosensitive 1

Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF

Spondylometaphyseal Dysplasia, Sutcliffe Type

Spondylometaphyseal Dysplasia Corner Fracture Type

Spondylometaphyseal Dysplasia, 'Corner Fracture' Type

Spondylometaphyseal Dysplasia Sutcliffe Type

Sutcliffe Type Of Spondylometaphyseal Dysplasia

Spondylometaphyseal Dysplasia - Sutcliffe Type

Smd, Corner Fractures Type

Smd, Sutcliffe Type

Sutcliffe Smd

Dysplasia, Spondylometaphyseal, Corner Fracture Type

Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome

Pancytopenia
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Anauxetic Dysplasia 1

Anauxetic Dysplasia

Spondylometaepiphyseal Dysplasia, Menger Type

Spondylometaepiphyseal Dysplasia, Anauxetic Type

Spondyloepimetaphyseal Dysplasia, Anauxetic Type

ANXD1

Anxd

Spondylometaepiphyseal Dysplasia Anauxetic Type

Spondylometaepiphyseal Dysplasia Menger Type

Ad

Spondyloepimetaphyseal Dysplasia, Menger Type

Dysplasia, Anauxetic, Type 1

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Felis catus EFL1 VGNC VGNC:61747
Rattus norvegicus EFL1 RGD RGD:1306521
Canis familiaris EFL1 VGNC VGNC:40225
Mus musculus EFL1 MGD MGI:2141969
Macaca mulatta EFL1 VGNC VGNC:72112
Bos taurus EFL1 VGNC VGNC:28354