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

MIPOL1 - mirror-image polydactyly 1 Gene

Homo sapiens

Also known as CCDC193

Gene ID: 145282 | Gene type: protein coding

About 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.

Summary

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 Products(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
Protein Preferred Names Protein Names

mirror-image polydactyly gene 1 protein

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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