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  2. LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

中文名称:La 核糖核蛋白 7,转录调节因子

种属: Homo sapiens

同用名: ALAZS; PIP7S; hLARP7; HDCMA18P

基因 ID: 51574 | 基因类型: protein coding

关于 LARP7

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:112,637,143-112,657,586 (from NCBI)

This gene has 39 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 17.7), thyroid (RPKM 16.5) and 25 other tissues.

功能概要

该基因编码的蛋白质存在于 7SK snRNP (小核核糖核蛋白) 中。这种 snRNP 复合物抑制细胞周期蛋白依赖性激酶,正转录延伸因子 b,这是启动子处暂停的 RNA 聚合酶 II 开始转录延伸所必需的。该基因的假基因位于 3 号染色体上。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 5 月]

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LARP7 基因产物(12)

mRNA Protein Name
NM_001267039.4 NP_001253968.2 la-related protein 7 isoform 1
NM_001370974.1 NP_001357903.1 la-related protein 7 isoform 3
NM_001370975.1 NP_001357904.1 la-related protein 7 isoform 3
NM_001370976.1 NP_001357905.1 la-related protein 7 isoform 4
NM_001370977.1 NP_001357906.1 la-related protein 7 isoform 4
NM_001370978.1 NP_001357907.1 la-related protein 7 isoform 1
NM_001370979.1 NP_001357908.1 la-related protein 7 isoform 5
NM_001370980.1 NP_001357909.1 la-related protein 7 isoform 5
NM_001370981.1 NP_001357910.1 la-related protein 7 isoform 6
NM_001370982.1 NP_001357911.1 la-related protein 7 isoform 6
NM_015454.3 NP_056269.1 la-related protein 7 isoform 1
NM_016648.4 NP_057732.2 la-related protein 7 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 7SK snRNA binding IDA
IDA: 通过直接分析推断
18249148 GOA
enables U6 snRNA binding IDA
IDA: 通过直接分析推断
32017898 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18281698 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 7SK snRNP IDA
IDA: 通过直接分析推断
18249148 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28254838 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
19906723 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

LARP7 蛋白结构

La

La: La domain (38 - 97)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 188)

RRM_3

RRM_3: RNA binding motif (454 - 552)

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  • 500
  • 582 a.a.
蛋白主名 其他名称

la-related protein 7

La ribonucleoprotein domain family member 7

LARP7 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
Anti Tag CoIP
35271311
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
Pull Down
18483487
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
Anti Tag CoIP
33961781
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
TAP
18281698
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
Anti Bait CoIP
18483487
种属内
LARP7 Q4G0J3 CDK9 Homo sapiens P50750
Anti Bait CoIP
18281698
种属内
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
Anti Tag CoIP
35271311
种属内
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
Anti Bait CoIP
18281698
种属内
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
TAP
18281698
种属内
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
Anti Tag CoIP
33961781
种属内
LARP7 Q4G0J3 HEXIM1 Homo sapiens O94992
Anti Bait CoIP
18483487
种属内
LARP7 Q4G0J3 DDX21 Homo sapiens Q9NR30
Anti Tag CoIP
33961781
种属内
LARP7 Q4G0J3 OASL Homo sapiens Q15646
Pull Down
30833792
种属内
LARP7 Q4G0J3 LRRK2 Homo sapiens Q5S007
Protein Array
29513927
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Alazami Syndrome

Microcephalic Primordial Dwarfism, Alazami Type

ALAZS

Facial Dysmorphism, Intellectual Disability, And Primordial Dwarfism

Facial Dysmorphism Intellectual Disability And Primordial Dwarfism

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Coffin-Siris Syndrome 9

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

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
Canis familiaris LARP7 VGNC VGNC:42591
Rattus norvegicus LARP7 RGD RGD:1592474
Felis catus LARP7 VGNC VGNC:63196
Macaca mulatta LARP7 VGNC VGNC:74118
Mus musculus LARP7 MGD MGI:107634
Bos taurus LARP7 VGNC VGNC:30794