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Q96JB8 (MPP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:MPP4
Synonyms:ALS2CR5, DLG6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length637 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 637637MAGUK p55 subfamily member 4
PRO_0000094577

Regions

Domain24 – 8057L27 1
Domain87 – 13751L27 2
Domain154 – 23582PDZ
Domain242 – 31271SH3
Domain427 – 616190Guanylate kinase-like
Coiled coil568 – 62154 Potential

Natural variations

Alternative sequence93 – 16472Missing in isoform 5.
VSP_013991
Alternative sequence121 – 16444Missing in isoform 3 and isoform 4.
VSP_003157
Alternative sequence245 – 25713Missing in isoform 2.
VSP_003159
Alternative sequence311 – 637327Missing in isoform 3.
VSP_003158
Alternative sequence311 – 33727KQREF…ISMEE → WSFALVAQAGVQWHYLDSLQ PLPPGFKRFSCLSLPRSWDY I in isoform 4.
VSP_013992
Alternative sequence332 – 36332SISME…ELSED → Y in isoform 2.
VSP_003160
Alternative sequence358 – 3625Missing in isoform 4.
VSP_013993
Natural variant441G → S. Ref.1 Ref.2 Ref.3
Corresponds to variant rs6725443 [ dbSNP | Ensembl ].
VAR_022643
Natural variant5621V → I.
Corresponds to variant rs11894115 [ dbSNP | Ensembl ].
VAR_050015

Experimental info

Sequence conflict51D → G in BAD18399. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: B180AE8635E32CDD

FASTA63772,779
        10         20         30         40         50         60 
MIQSDKGADP PDKKDMKLST ATNPQNGLSQ ILRLVLQELS LFYGRDVNGV CLLYDLLHSP 

        70         80         90        100        110        120 
WLQALLKIYD CLQEFKEKKL VPATPHAQVL SYEVVELLRE TPTSPEIQEL RQMLQAPHFK 

       130        140        150        160        170        180 
ALLSAHDTIA QKDFEPLLPP LPDNIPESEE AMRIVCLVKN QQPLGATIKR HEMTGDILVA 

       190        200        210        220        230        240 
RIIHGGLAER SGLLYAGDKL VEVNGVSVEG LDPEQVIHIL AMSRGTIMFK VVPVSDPPVN 

       250        260        270        280        290        300 
SQQMVYVRAM TEYWPQEDPD IPCMDAGLPF QKGDILQIVD QNDALWWQAR KISDPATCAG 

       310        320        330        340        350        360 
LVPSNHLLKR KQREFWWSQP YQPHTCLKST LSISMEEEDD MKIDEKCVEA DEETFESEEL 

       370        380        390        400        410        420 
SEDKEEFVGY GQKFFIAGFR RSMRLCRRKS HLSPLHASVC CTGSCYSAVG APYEEVVRYQ 

       430        440        450        460        470        480 
RRPSDKYRLI VLMGPSGVGV NELRRQLIEF NPSHFQSAVP HTTRTKKSYE MNGREYHYVS 

       490        500        510        520        530        540 
KETFENLIYS HRMLEYGEYK GHLYGTSVDA VQTVLVEGKI CVMDLEPQDI QGVRTHELKP 

       550        560        570        580        590        600 
YVIFIKPSNM RCMKQSRKNA KVITDYYVDM KFKDEDLQEM ENLAQRMETQ FGQFFDHVIV 

       610        620        630 
NDSLHDACAQ LLSAIQKAQE EPQWVPATWI SSDTESQ 

« Hide

Isoform 2 [UniParc].

Checksum: 2AE3ACCFDCAB8236
Show »

FASTA59367,565
Isoform 3 [UniParc].

Checksum: 4B29F97B2268AB26
Show »

FASTA26629,771
Isoform 4 [UniParc].

Checksum: 45A4EC99FA4BB75B
Show »

FASTA60268,755
Isoform 5 [UniParc].

Checksum: 4A18FB861772DBA3
Show »

FASTA56564,600

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. expand/collapse author list , Rouleau G.A., Hayden M.R., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.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.
RefSeqNP_149055.1. NM_033066.2.
XP_005246790.1. XM_005246733.2.
XP_005246791.1. XM_005246734.2.
UniGeneHs.63085.

3D structure databases

ProteinModelPortalQ96JB8.
SMRQ96JB8. Positions 17-237, 244-628.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121853. 1 interaction.
IntActQ96JB8. 1 interaction.
STRING9606.ENSP00000387278.

PTM databases

PhosphoSiteQ96JB8.

Polymorphism databases

DMDM296438297.

Proteomic databases

PaxDbQ96JB8.
PRIDEQ96JB8.

Protocols and materials databases

DNASU58538.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000315506; ENSP00000319363; ENSG00000082126. [Q96JB8-2]
ENST00000409474; ENSP00000387278; ENSG00000082126. [Q96JB8-1]
GeneID58538.
KEGGhsa:58538.
UCSCuc002uyj.4. human. [Q96JB8-4]
uc002uyk.4. human. [Q96JB8-1]
uc002uym.1. human. [Q96JB8-3]
uc010ftk.3. human. [Q96JB8-2]

Organism-specific databases

CTD58538.
GeneCardsGC02M202509.
HGNCHGNC:13680. MPP4.
HPAHPA036387.
MIM606575. gene.
neXtProtNX_Q96JB8.
PharmGKBPA30927.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0194.
HOGENOMHOG000233034.
HOVERGENHBG001858.
InParanoidQ96JB8.
OMAEDPAIPC.
OrthoDBEOG79CXZ5.
PhylomeDBQ96JB8.
TreeFamTF314263.

Gene expression databases

ArrayExpressQ96JB8.
BgeeQ96JB8.
CleanExHS_MPP4.
GenevestigatorQ96JB8.

Family and domain databases

Gene3D2.30.42.10. 1 hit.
3.40.50.300. 2 hits.
InterProIPR008145. GK/Ca_channel_bsu.
IPR008144. Guanylate_kin-like.
IPR020590. Guanylate_kinase_CS.
IPR004172. L27.
IPR014775. L27_C.
IPR027417. P-loop_NTPase.
IPR001478. PDZ.
IPR001452. SH3_domain.
[Graphical view]
PfamPF00625. Guanylate_kin. 1 hit.
PF02828. L27. 1 hit.
PF00595. PDZ. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTSM00072. GuKc. 1 hit.
SM00569. L27. 2 hits.
SM00228. PDZ. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
SSF50156. SSF50156. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS00856. 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]
ProtoNetSearch...

Other

GenomeRNAi58538.
NextBio65122.
PROQ96JB8.
SOURCESearch...

Entry information

Entry nameMPP4_HUMAN
AccessionPrimary (citable) accession number: Q96JB8
Secondary accession number(s): C9IZK4 expand/collapse secondary AC list , Q53TT3, Q6ZNH6, Q96Q43, Q96Q44
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM