1. Gene
  2. MIPOL1 - mirror-image polydactyly 1 Gene

MIPOL1 - mirror-image polydactyly 1 Gene

中文名称:镜样多指畸形 1

种属: Homo sapiens

同用名: CCDC193

基因 ID: 145282 | 基因类型: protein coding

关于 MIPOL1

Cytogenetic location: 14q13.3-q21.1 Genomic coordinates (GRCh38): 14:37,197,937-37,585,618 (from NCBI)

This gene has 30 transcripts (splice variants) and 177 orthologues. Broad expression in prostate (RPKM 1.7), testis (RPKM 0.6) and 20 other tissues.

功能概要

该基因编码含有卷曲螺旋结构域的蛋白质。所编码的蛋白质可能起到肿瘤抑制因子的作用。导致由该位点编码的蛋白质截断的易位与镜像多指畸形有关,也称为 Laurin-Sandrow 综合症。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2010 年 9 月]

This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]

MIPOL1 基因产物(14)

mRNA Protein Name
NM_001195296.2 NP_001182225.1 mirror-image polydactyly gene 1 protein isoform 1
NM_001195297.2 NP_001182226.1 mirror-image polydactyly gene 1 protein isoform 1
NM_001388067.1 NP_001374996.1 mirror-image polydactyly gene 1 protein isoform 1
NM_001388068.1 NP_001374997.1 mirror-image polydactyly gene 1 protein isoform 1
NM_001388069.1 NP_001374998.1 mirror-image polydactyly gene 1 protein isoform 2
NM_001388070.1 NP_001374999.1 mirror-image polydactyly gene 1 protein isoform 3
NM_001388071.1 NP_001375000.1 mirror-image polydactyly gene 1 protein isoform 3
NM_001388072.1 NP_001375001.1 mirror-image polydactyly gene 1 protein isoform 3
NM_001388073.1 NP_001375002.1 mirror-image polydactyly gene 1 protein isoform 4
NM_001388074.1 NP_001375003.1 mirror-image polydactyly gene 1 protein isoform 5
NM_001388075.1 NP_001375004.1 mirror-image polydactyly gene 1 protein isoform 5
NM_001388077.1 NP_001375006.1 mirror-image polydactyly gene 1 protein isoform 6
NM_001412440.1 NP_001399369.1 mirror-image polydactyly gene 1 protein isoform 7
NM_138731.7 NP_620059.1 mirror-image polydactyly gene 1 protein isoform 1
蛋白主名 其他名称

mirror-image polydactyly gene 1 protein

关联疾病

疾病名称 别名
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Laurin-Sandrow Syndrome

Sandrow Syndrome

Tetramelic Mirror-Image Polydactyly

Mirror-Image Polydactyly

Mirror Hands And Feet With Nasal Defects

Tmip

LSS

Mip

Mirror Hands And Feets-Nasal Defects Syndrome

Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius

Miccor Hands And Feet With Nasal Defects

Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius

Fibula Ulna Duplication Tibia Radius Absence

Laurin Sandrow Syndrome

Duplication Of Fibula And Ulna With Absence Of Tibia And Radius

Segmental Laurin-Sandrow Syndrome

Laurin-Sandrow Syndrome, Segmental

Bronchus Adenoma

Bronchial Adenoma

Adenoma Of The Bronchus

Acute Laryngitis

Acute Laryngitis Nos

Laryngeal Inflammation

Laryngitis Nos

Larynx Inflammation

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 MIPOL1 VGNC VGNC:106823
Canis familiaris MIPOL1 VGNC VGNC:43243
Felis catus MIPOL1 VGNC VGNC:80911
Rattus norvegicus MIPOL1 RGD RGD:6504372
Mus musculus MIPOL1 MGD MGI:1920740
Macaca mulatta MIPOL1 VGNC VGNC:74801