SEC23IP - SEC23 interacting protein Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11196

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
Molecular Function GO Annotation Evidence References 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

SAM_1: SAM domain (Sterile alpha motif) (645 - 700)

DDHD

DDHD: DDHD domain (779 - 989)

  • 0
  • 200
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  • 1000 a.a.
Protein Preferred Names Protein Names

SEC23-interacting protein

  • intracellular phospholipase A1 beta

SEC23IP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SEC23IP Q9Y6Y8 SSC5D Homo sapiens A1L4H1 25416956
Intra
SEC23IP Q9Y6Y8 IFT25 Homo sapiens Q9Y547 25416956
Intra
SEC23IP Q9Y6Y8 IFT25 Homo sapiens Q9Y547 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

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
Others SEC23IP NCBI