SIPA1L3 - signal induced proliferation associated 1 like 3 Gene

Also Known as SPAL3; SPAR3; CTRCT45

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23094

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in epithelial cell morphogenesis	IDA IDA: Inferred from direct assay	26231217	GOA
involved in establishment of epithelial cell polarity	IDA IDA: Inferred from direct assay	26231217	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical part of cell	IMP IMP: Inferred from mutant phenotype	26231217	GOA
located in stress fiber	IDA IDA: Inferred from direct assay	26231217	GOA
located in tricellular tight junction	IDA IDA: Inferred from direct assay	26231217	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

SIPA1L3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIPA1L3	O60292	YWHAZ	Homo sapiens	P63104	Anti Tag CoIP	33961781
Intra	SIPA1L3	O60292	YWHAZ	Homo sapiens	P63104	Pull Down	15161933

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

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