SIPA1L3 - signal induced proliferation associated 1 like 3 Gene

Homo sapiens

Also known as SPAL3; SPAR3; CTRCT45

Gene ID: 23094 | Gene type: protein coding

About SIPA1L3

Cytogenetic location: 19q13.13-q13.2 Genomic coordinates (GRCh38): 19:37,907,208-38,208,369 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 6.9), duodenum (RPKM 6.5) and 24 other tissues.

Summary

This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the Cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in Cell Culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 Cell Culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]

SIPA1L3 Products(1)

mRNA	Protein	Name
NM_015073.3	NP_055888.1	signal-induced proliferation-associated 1-like protein 3

SIPA1L3 Protein Structure

Rap_GAP

SPAR_C

0
300
600
900
1200
1500
1781 a.a.

Protein Preferred Names

Protein Names

signal-induced proliferation-associated 1-like protein 3

SIPA1-like protein 3

Related Diseases

Diseases

Alias

Cataract 45

CTRCT45

Cataract 44

CTRCT44	Total Early-Onset Cataract
Cataract 44 And Hypotrichosis	Cataract And Hypotrichosis
Cataract, Type 44

Hepatic Angiomyolipoma

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Cataract 18

Cataract, Autosomal Recessive Congenital 2	Catc2
CTRCT18	Autosomal Recessive Congenital Cataract 2
Cataract 18, Autosomal Recessive	Cataract 18 Autosomal Recessive
Cataract, Type 18

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12931	SIPA1L3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SIPA1L3	VGNC	VGNC:77298
Bos taurus	SIPA1L3	VGNC	VGNC:53042
Canis familiaris	SIPA1L3	VGNC	VGNC:46182
Mus musculus	SIPA1L3	MGD	MGI:1921456
Rattus norvegicus	SIPA1L3	RGD	RGD:1311432

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