1. Gene
  2. RTL1 - retrotransposon Gag like 1 Gene

RTL1 - retrotransposon Gag like 1 Gene

中文名称:逆转录转座子 Gag like 1

种属: Homo sapiens

同用名: HUR1; Mar1; MART1; PEG11; SIRH2

基因 ID: 388015 | 基因类型: protein coding

关于 RTL1

Cytogenetic location: 14q32.2-q32.31 Genomic coordinates (GRCh38): 14:100,879,753-100,903,722 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 10 paralogues and is associated with 6 phenotypes.

功能概要

该基因是一种反转录转座子衍生的、父系表达的印记基因,在胎儿晚期和胎盘中均高度表达。它有一个重叠的母体表达的反义转录物,其中包含几个通过 RNA 干扰 (RNAi) 机制靶向该基因转录物的 MicroRNA。该基因对于维持胎儿毛细血管至关重要。[RefSeq 提供,2009 年 7 月]

This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several MicroRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]

RTL1 基因产物(1)

mRNA Protein Name
NM_001134888.3 NP_001128360.1 retrotransposon-like protein 1

RTL1 蛋白结构

Retrotrans_gag

Retrotrans_gag: Retrotransposon gag protein (241 - 332)

gag-asp_proteas

gag-asp_proteas: gag-polyprotein putative aspartyl protease (421 - 473)

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  • 1358 a.a.
蛋白主名 其他名称

retrotransposon-like protein 1

Sushi-Ichi retrotransposon homolog 2

关联疾病

疾病名称 别名
Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat

Maternal Uniparental Disomy
Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66

Facial Hemiatrophy

Parry-Romberg Syndrome

Polyhydramnios
Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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 RTL1 VGNC VGNC:34199
Mus musculus RTL1 MGD MGI:2656842
Rattus norvegicus RTL1 RGD RGD:11378340
Canis familiaris RTL1 VGNC VGNC:45791
Macaca mulatta RTL1 VGNC VGNC:84761
Others RTL1 NCBI