Q96JB8 (MPP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: MAGUK p55 subfamily member 4 Alternative name(s): Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein Discs large homolog 6 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 637 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in retinal photoreceptors development By similarity. |
| Subunit structure | Interacts with MPDZ. May interact with GRIA2 By similarity. Forms a complex with CRB1 and MPP5. Interacts with FASLG. Ref.6 Ref.8 |
| Subcellular location | Cytoplasm. Note: Detected at the outer limiting membrane (OLM) and in the outer plexiform layer (OPL) of the retina. At the OLM, detected apical to the adherens junction (AJ). Ref.6 |
| Tissue specificity | Expressed in the retina (at protein level). Highly expressed in the retina. Lower amounts are detected in brain, testis, ARPE-19, RPE/choroid and fetal eye. Isoform 5 is retina-specific. Ref.1 Ref.5 Ref.6 Ref.7 |
| Sequence similarities | Belongs to the MAGUK family. Contains 1 guanylate kinase-like domain. Contains 2 L27 domains. Contains 1 PDZ (DHR) domain. Contains 1 SH3 domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat SH3 domain |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | protein localization to synapse Inferred from electronic annotation. Source: Compara |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell presynaptic membraneInferred from electronic annotation. Source: Compara |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96JB8-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96JB8-2) The sequence of this isoform differs from the canonical sequence as follows: 245-257: Missing. 332-363: SISMEEEDDMKIDEKCVEADEETFESEELSED → Y | ||||||
| Isoform 3 (identifier: Q96JB8-3) The sequence of this isoform differs from the canonical sequence as follows: 121-164: Missing. 311-637: Missing. | ||||||
| Isoform 4 (identifier: Q96JB8-4) The sequence of this isoform differs from the canonical sequence as follows: 121-164: Missing. 311-337: KQREFWWSQPYQPHTCLKSTLSISMEE → WSFALVAQAGVQWHYLDSLQPLPPGFKRFSCLSLPRSWDYI 358-362: Missing. | ||||||
| Isoform 5 (identifier: Q96JB8-5) The sequence of this isoform differs from the canonical sequence as follows: 93-164: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 637 | 637 | MAGUK p55 subfamily member 4 | PRO_0000094577 | |||||
Regions | |||||||||
| Domain | 24 – 80 | 57 | L27 1 | ||||||
| Domain | 87 – 137 | 51 | L27 2 | ||||||
| Domain | 154 – 235 | 82 | PDZ | ||||||
| Domain | 242 – 312 | 71 | SH3 | ||||||
| Domain | 427 – 616 | 190 | Guanylate kinase-like | ||||||
| Coiled coil | 568 – 621 | 54 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 93 – 164 | 72 | Missing in isoform 5. | VSP_013991 | |||||
| Alternative sequence | 121 – 164 | 44 | Missing in isoform 3 and isoform 4. | VSP_003157 | |||||
| Alternative sequence | 245 – 257 | 13 | Missing in isoform 2. | VSP_003159 | |||||
| Alternative sequence | 311 – 637 | 327 | Missing in isoform 3. | VSP_003158 | |||||
| Alternative sequence | 311 – 337 | 27 | KQREF…ISMEE → WSFALVAQAGVQWHYLDSLQ PLPPGFKRFSCLSLPRSWDY I in isoform 4. | VSP_013992 | |||||
| Alternative sequence | 332 – 363 | 32 | SISME…ELSED → Y in isoform 2. | VSP_003160 | |||||
| Alternative sequence | 358 – 362 | 5 | Missing in isoform 4. | VSP_013993 | |||||
| Natural variant | 44 | 1 | G → S. Ref.1 Ref.2 Ref.3 Corresponds to variant rs6725443 [ dbSNP | Ensembl ]. | VAR_022643 | |||||
| Natural variant | 562 | 1 | V → I. Corresponds to variant rs11894115 [ dbSNP | Ensembl ]. | VAR_050015 | |||||
Experimental info | |||||||||
| Sequence conflict | 5 | 1 | D → G in BAD18399. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins." Stoehr H., Weber B.H.F. Genomics 74:377-384(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT SER-44. Tissue: Retina. |
| [2] | "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. Ikeda J.-E.Nat. Genet. 29:166-173(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), VARIANT SER-44. Tissue: Brain. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT SER-44. Tissue: Teratocarcinoma. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa." Conte I., Lestingi M., den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E., Baiget M., Banfi S., Ciccodicola A. Gene 297:33-38(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION (ISOFORM 5), TISSUE SPECIFICITY. |
| [6] | "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors." Kantardzhieva A., Gosens I., Alexeeva S., Punte I.M., Versteeg I., Krieger E., Neefjes-Mol C.A., den Hollander A.I., Letteboer S.J.F., Klooster J., Cremers F.P.M., Roepman R., Wijnholds J. Invest. Ophthalmol. Vis. Sci. 46:2192-2201(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CRB1 AND MPP5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [7] | "Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina." Stoehr H., Molday L.L., Molday R.S., Weber B.H.F., Biedermann B., Reichenbach A., Kraemer F. J. Comp. Neurol. 481:31-41(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [8] | "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening." Voss M., Lettau M., Janssen O. BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FASLG. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF316032 mRNA. Translation: AAK71862.1. AB053302 mRNA. Translation: BAB69012.1. AB053303 mRNA. Translation: BAB69013.1. AK131208 mRNA. Translation: BAD18399.1. AC007279 Genomic DNA. Translation: AAY15057.1. |
| IPI | IPI00157237. IPI00220204. IPI00220205. IPI00604511. IPI01013504. |
| RefSeq | NP_149055.1. NM_033066.2. |
| UniGene | Hs.63085. |
3D structure databases | |
| ProteinModelPortal | Q96JB8. |
| SMR | Q96JB8. Positions 62-135, 151-233, 245-313, 428-627. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96JB8. 1 interaction. |
| STRING | 9606.ENSP00000387278. |
PTM databases | |
| PhosphoSite | Q96JB8. |
Polymorphism databases | |
| DMDM | 296438297. |
Proteomic databases | |
| PaxDb | Q96JB8. |
| PRIDE | Q96JB8. |
Protocols and materials databases | |
| DNASU | 58538. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000315506; ENSP00000319363; ENSG00000082126. ENST00000409474; ENSP00000387278; ENSG00000082126. |
| GeneID | 58538. |
| KEGG | hsa:58538. |
| UCSC | uc002uyj.4. human. uc002uyk.4. human. uc002uym.1. human. uc010ftk.3. human. |
Organism-specific databases | |
| CTD | 58538. |
| GeneCards | GC02M202509. |
| HGNC | HGNC:13680. MPP4. |
| HPA | HPA036387. |
| MIM | 606575. gene. |
| neXtProt | NX_Q96JB8. |
| PharmGKB | PA30927. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0194. |
| HOGENOM | HOG000233034. |
| HOVERGEN | HBG001858. |
| InParanoid | Q96JB8. |
| OMA | FYSRDVN. |
| OrthoDB | EOG4F7NK0. |
Gene expression databases | |
| ArrayExpress | Q96JB8. |
| Bgee | Q96JB8. |
| CleanEx | HS_MPP4. |
| Genevestigator | Q96JB8. |
| GermOnline | ENSG00000082126. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008144. Guanylate_kin. IPR008145. Guanylate_kin/L-typ_Ca_channel. IPR020590. Guanylate_kinase_CS. IPR004172. L27. IPR014775. L27_C. IPR001478. PDZ. IPR001452. SH3_domain. [Graphical view] |
| Pfam | PF00625. Guanylate_kin. 1 hit. PF02828. L27. 1 hit. PF00595. PDZ. 1 hit. PF00018. SH3_1. 1 hit. [Graphical view] |
| SMART | SM00072. GuKc. 1 hit. SM00569. L27. 2 hits. SM00228. PDZ. 1 hit. SM00326. SH3. 1 hit. [Graphical view] |
| SUPFAM | SSF50156. PDZ. 1 hit. SSF50044. SH3. 1 hit. |
| PROSITE | PS00856. GUANYLATE_KINASE_1. 1 hit. PS50052. GUANYLATE_KINASE_2. 1 hit. PS51022. L27. 2 hits. PS50106. PDZ. 1 hit. PS50002. SH3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 58538. |
| NextBio | 65122. |
| SOURCE | Search... |
Entry information
| Entry name | MPP4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96JB8 Secondary accession number(s): C9IZK4 Q96Q44 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
