MIPOL1
Description
The MIPOL1 (mirror-image polydactyly 1) is a protein-coding gene located on chromosome 14.
MIPOL1 (Mirror Image Polydactyly 1), also known as CCDC193 (Coiled-coil domain containing 193), is a protein that in humans is encoded by the MIPOL1 gene. Mutation of this gene is associated with mirror-image polydactyly (also known as Laurin-Sandrow syndrome.) in humans, which is a rare genetic condition characterized by mirror-image duplication of digits.
== Gene == MIPOL1 is also known as CCDC193 (Coiled-coil domain containing 193).
=== Locus === The MIPOL1 gene is located at 14q13.3-q21.1 on the plus strand, spanning base pairs 37,197,888 to 37,579,207 (in the human GRCh38 primary assembly, length: 381,320 base pairs), consisting of 15 exons and 11 introns. Some notable genes in its neighborhood include SLC25A21 (mutation of this gene causes synpolydactyly) and FOXA1.
== mRNA == MIPOL1 has at least 15 known splice isoforms produced by alternative splicing.
== Protein ==
=== Properties === The unmodified MIPOL1 protein isoform 1 in humans has an isoelectric point of 5.6 and molecular weight 51.5 kDa. Relative to other human proteins, MIPOL1 consists of unusually low amounts of Proline and Glycine and higher amounts of Glutamic acid and Glutamine.
=== Isoforms === There are at least three known isoforms of this protein in humans produced by alternative splicing: isoform 1, of length 442 amino acids, isoform 2 of length 261 amino acids and isoform 3 of length 169 amino acids.
=== Domains and motifs === MIPOL1 contains two coiled-coil domains in its C-terminus at positions 107 – 212 and 253 – 435 (shown in Fig.1).
MIPOL1 is also known as CCDC193.
