SEC23IP - SEC23 interacting protein Gene

Homo sapiens

Also known as P125; P125A; iPLA1A; MSTP053; iPLA1beta

Gene ID: 11196 | Gene type: protein coding

About SEC23IP

Cytogenetic location: 10q26.11-q26.12 Genomic coordinates (GRCh38): 10:119,892,730-119,944,657 (from NCBI)

This gene has 8 transcripts (splice variants), 213 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 7.9), stomach (RPKM 7.7) and 25 other tissues.

Summary

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

SEC23IP Products(2)

mRNA	Protein	Name
NM_001411070.1	NP_001397999.1	SEC23-interacting protein isoform 2
NM_007190.4	NP_009121.1	SEC23-interacting protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

SEC23IP Protein Structure

SAM_1

DDHD

0
200
400
600
800
1000 a.a.

Protein Preferred Names

Protein Names

SEC23-interacting protein

intracellular phospholipase A1 beta

SEC23IP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SEC23IP	Q9Y6Y8	SSC5D	Homo sapiens	A1L4H1	Y2H Array	25416956
Intra	SEC23IP	Q9Y6Y8	IFT25	Homo sapiens	Q9Y547	Validated Y2H	25416956
Intra	SEC23IP	Q9Y6Y8	IFT25	Homo sapiens	Q9Y547	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spastic Paraplegia 54, Autosomal Recessive

SPG54	Hereditary Spastic Paraplegia 54
Autosomal Recessive Spastic Paraplegia Type 54	Autosomal Recessive Spastic Paraplegia 54
Paraplegia, Spastic, Type 54, Autosomal Recessive

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS12614	SEC23IP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SEC23IP	VGNC	VGNC:77255
Mus musculus	SEC23IP	MGD	MGI:2450915
Canis familiaris	SEC23IP	VGNC	VGNC:45971
Bos taurus	SEC23IP	VGNC	VGNC:34412
Felis catus	SEC23IP	VGNC	VGNC:97619
Rattus norvegicus	SEC23IP	RGD	RGD:1309328

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