MPP4 - MAGUK p55 scaffold protein 4 Gene

Also Known as DLG6; ALS2CR5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 58538

About MPP4

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:201,644,874-201,698,644 (from NCBI)

This gene has 12 transcripts (splice variants), 277 orthologues and 7 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central Src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MPP4 Products (1)

mRNA Protein Name
NM_033066.3 NP_149055.2 MAGUK p55 subfamily member 4
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15914641 GOA
Cellular Component GO Annotation Evidence References Source
located in adherens junction IDA
IDA: Inferred from direct assay
15914641 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
15914641 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

MPP4 Protein Structure

L27

L27: L27 domain (91 - 136)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (159 - 231)

SH3_1

SH3_1: SH3 domain (268 - 304)

Guanylate_kin

Guanylate_kin: Guanylate kinase (427 - 617)

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  • 637 a.a.
Protein Preferred Names Protein Names

MAGUK p55 subfamily member 4

  • amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein

MPP4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MPP4 Q96JB8 CRB1 Homo sapiens P82279 15914641
Intra
MPP4 Q96JB8 CRB1 Homo sapiens P82279 15914641
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Nanophthalmos
  • Nanophthalmia

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 MPP4 VGNC VGNC:74734
Mus musculus MPP4 MGD MGI:2386681
Rattus norvegicus MPP4 RGD RGD:620016
Bos taurus MPP4 VGNC VGNC:106825
Canis familiaris MPP4 VGNC VGNC:43345
Felis catus MPP4 VGNC VGNC:97516
Others MPP4 NCBI