1. Gene
  2. MLIP - muscular LMNA interacting protein Gene

MLIP - muscular LMNA interacting protein Gene

中文名称:肌肉 LMNA 相互作用蛋白

种属: Homo sapiens

同用名: CIP; MMCKR; C6orf142

基因 ID: 90523 | 基因类型: protein coding

关于 MLIP

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:54,018,970-54,266,280 (from NCBI)

This gene has 13 transcripts (splice variants) and 169 orthologues. Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue.

功能概要

预测启用核纤层蛋白结合活性和转录辅阻遏物活性。预计参与应激反应心肌肥大的负调节; RNA 聚合酶 II 对转录的负调控;和 RNA 聚合酶 II 对转录的正调控。预计位于核腔内。预计活跃于 PML 体内;核包膜;和肌膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear lumen. Predicted to be active in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Apr 2022]

MLIP 基因产物(3)

mRNA Protein Name
NM_001281746.2 NP_001268675.1 muscular LMNA-interacting protein isoform 2
NM_001281747.2 NP_001268676.1 muscular LMNA-interacting protein isoform 1
NM_138569.3 NP_612636.2 muscular LMNA-interacting protein isoform 3
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

MLIP 蛋白结构

MLIP

MLIP: Muscular LMNA-interacting protein (117 - 372)

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  • 458 a.a.
蛋白主名 其他名称

muscular LMNA-interacting protein

cardiac ISL1-interacting protein

关联疾病

疾病名称 别名
Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

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
Mus musculus MLIP MGD MGI:1916892
Canis familiaris MLIP VGNC VGNC:43259
Rattus norvegicus MLIP RGD RGD:1590513
Macaca mulatta MLIP VGNC VGNC:83434
Bos taurus MLIP VGNC VGNC:31499
Felis catus MLIP VGNC VGNC:63523