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Q96JB8

- MPP4_HUMAN

UniProt

Q96JB8 - MPP4_HUMAN

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Protein

MAGUK p55 subfamily member 4

Gene
MPP4, ALS2CR5, DLG6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play a role in retinal photoreceptors development By similarity.

GO - Biological processi

  1. protein localization to synapse Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
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 namesi
Name:MPP4
Synonyms:ALS2CR5, DLG6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:13680. MPP4.

Subcellular locationi

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).1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. intracellular membrane-bounded organelle Source: HPA
  3. nucleus Source: HPA
  4. presynaptic membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30927.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 637637MAGUK p55 subfamily member 4PRO_0000094577Add
BLAST

Proteomic databases

PaxDbiQ96JB8.
PRIDEiQ96JB8.

PTM databases

PhosphoSiteiQ96JB8.

Expressioni

Tissue specificityi

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.4 Publications

Gene expression databases

ArrayExpressiQ96JB8.
BgeeiQ96JB8.
CleanExiHS_MPP4.
GenevestigatoriQ96JB8.

Organism-specific databases

HPAiHPA036387.

Interactioni

Subunit structurei

Interacts with MPDZ. May interact with GRIA2 By similarity. Forms a complex with CRB1 and MPP5. Interacts with FASLG.2 Publications

Protein-protein interaction databases

BioGridi121853. 1 interaction.
IntActiQ96JB8. 1 interaction.
STRINGi9606.ENSP00000387278.

Structurei

3D structure databases

ProteinModelPortaliQ96JB8.
SMRiQ96JB8. Positions 62-235, 245-313, 428-627.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 8057L27 1Add
BLAST
Domaini87 – 13751L27 2Add
BLAST
Domaini154 – 23582PDZAdd
BLAST
Domaini242 – 31271SH3Add
BLAST
Domaini427 – 616190Guanylate kinase-likeAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili568 – 62154 Reviewed predictionAdd
BLAST

Sequence similaritiesi

Belongs to the MAGUK family.
Contains 2 L27 domains.
Contains 1 PDZ (DHR) domain.
Contains 1 SH3 domain.

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

eggNOGiCOG0194.
HOGENOMiHOG000233034.
HOVERGENiHBG001858.
InParanoidiQ96JB8.
OMAiEDPAIPC.
OrthoDBiEOG79CXZ5.
PhylomeDBiQ96JB8.
TreeFamiTF314263.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR008145. 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]
PfamiPF00625. Guanylate_kin. 1 hit.
PF02828. L27. 1 hit.
PF00595. PDZ. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00072. GuKc. 1 hit.
SM00569. L27. 2 hits.
SM00228. PDZ. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
SSF50156. SSF50156. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00856. 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]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JB8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MIQSDKGADP PDKKDMKLST ATNPQNGLSQ ILRLVLQELS LFYGRDVNGV    50
CLLYDLLHSP WLQALLKIYD CLQEFKEKKL VPATPHAQVL SYEVVELLRE 100
TPTSPEIQEL RQMLQAPHFK ALLSAHDTIA QKDFEPLLPP LPDNIPESEE 150
AMRIVCLVKN QQPLGATIKR HEMTGDILVA RIIHGGLAER SGLLYAGDKL 200
VEVNGVSVEG LDPEQVIHIL AMSRGTIMFK VVPVSDPPVN SQQMVYVRAM 250
TEYWPQEDPD IPCMDAGLPF QKGDILQIVD QNDALWWQAR KISDPATCAG 300
LVPSNHLLKR KQREFWWSQP YQPHTCLKST LSISMEEEDD MKIDEKCVEA 350
DEETFESEEL SEDKEEFVGY GQKFFIAGFR RSMRLCRRKS HLSPLHASVC 400
CTGSCYSAVG APYEEVVRYQ RRPSDKYRLI VLMGPSGVGV NELRRQLIEF 450
NPSHFQSAVP HTTRTKKSYE MNGREYHYVS KETFENLIYS HRMLEYGEYK 500
GHLYGTSVDA VQTVLVEGKI CVMDLEPQDI QGVRTHELKP YVIFIKPSNM 550
RCMKQSRKNA KVITDYYVDM KFKDEDLQEM ENLAQRMETQ FGQFFDHVIV 600
NDSLHDACAQ LLSAIQKAQE EPQWVPATWI SSDTESQ 637
Length:637
Mass (Da):72,779
Last modified:May 18, 2010 - v2
Checksum:iB180AE8635E32CDD
GO
Isoform 2 (identifier: Q96JB8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-257: Missing.
     332-363: SISMEEEDDMKIDEKCVEADEETFESEELSED → Y

Show »
Length:593
Mass (Da):67,565
Checksum:i2AE3ACCFDCAB8236
GO
Isoform 3 (identifier: Q96JB8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     121-164: Missing.
     311-637: Missing.

Show »
Length:266
Mass (Da):29,771
Checksum:i4B29F97B2268AB26
GO
Isoform 4 (identifier: Q96JB8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     121-164: Missing.
     311-337: KQREFWWSQPYQPHTCLKSTLSISMEE → WSFALVAQAGVQWHYLDSLQPLPPGFKRFSCLSLPRSWDYI
     358-362: Missing.

Show »
Length:602
Mass (Da):68,755
Checksum:i45A4EC99FA4BB75B
GO
Isoform 5 (identifier: Q96JB8-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-164: Missing.

Show »
Length:565
Mass (Da):64,600
Checksum:i4A18FB861772DBA3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441G → S.3 Publications
Corresponds to variant rs6725443 [ dbSNP | Ensembl ].
VAR_022643
Natural varianti562 – 5621V → I.
Corresponds to variant rs11894115 [ dbSNP | Ensembl ].
VAR_050015

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei93 – 16472Missing in isoform 5. VSP_013991Add
BLAST
Alternative sequencei121 – 16444Missing in isoform 3 and isoform 4. VSP_003157Add
BLAST
Alternative sequencei245 – 25713Missing in isoform 2. VSP_003159Add
BLAST
Alternative sequencei311 – 637327Missing in isoform 3. VSP_003158Add
BLAST
Alternative sequencei311 – 33727KQREF…ISMEE → WSFALVAQAGVQWHYLDSLQ PLPPGFKRFSCLSLPRSWDY I in isoform 4. VSP_013992Add
BLAST
Alternative sequencei332 – 36332SISME…ELSED → Y in isoform 2. VSP_003160Add
BLAST
Alternative sequencei358 – 3625Missing in isoform 4. VSP_013993

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51D → G in BAD18399. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS46491.1. [Q96JB8-1]
RefSeqiNP_149055.1. NM_033066.2.
XP_005246790.1. XM_005246733.2. [Q96JB8-4]
XP_005246791.1. XM_005246734.2. [Q96JB8-2]
UniGeneiHs.63085.

Genome annotation databases

EnsembliENST00000315506; ENSP00000319363; ENSG00000082126. [Q96JB8-2]
ENST00000409474; ENSP00000387278; ENSG00000082126. [Q96JB8-1]
GeneIDi58538.
KEGGihsa:58538.
UCSCiuc002uyj.4. human. [Q96JB8-4]
uc002uyk.4. human. [Q96JB8-1]
uc002uym.1. human. [Q96JB8-3]
uc010ftk.3. human. [Q96JB8-2]

Polymorphism databases

DMDMi296438297.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS46491.1. [Q96JB8-1 ]
RefSeqi NP_149055.1. NM_033066.2.
XP_005246790.1. XM_005246733.2. [Q96JB8-4 ]
XP_005246791.1. XM_005246734.2. [Q96JB8-2 ]
UniGenei Hs.63085.

3D structure databases

ProteinModelPortali Q96JB8.
SMRi Q96JB8. Positions 62-235, 245-313, 428-627.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121853. 1 interaction.
IntActi Q96JB8. 1 interaction.
STRINGi 9606.ENSP00000387278.

PTM databases

PhosphoSitei Q96JB8.

Polymorphism databases

DMDMi 296438297.

Proteomic databases

PaxDbi Q96JB8.
PRIDEi Q96JB8.

Protocols and materials databases

DNASUi 58538.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000315506 ; ENSP00000319363 ; ENSG00000082126 . [Q96JB8-2 ]
ENST00000409474 ; ENSP00000387278 ; ENSG00000082126 . [Q96JB8-1 ]
GeneIDi 58538.
KEGGi hsa:58538.
UCSCi uc002uyj.4. human. [Q96JB8-4 ]
uc002uyk.4. human. [Q96JB8-1 ]
uc002uym.1. human. [Q96JB8-3 ]
uc010ftk.3. human. [Q96JB8-2 ]

Organism-specific databases

CTDi 58538.
GeneCardsi GC02M202509.
HGNCi HGNC:13680. MPP4.
HPAi HPA036387.
MIMi 606575. gene.
neXtProti NX_Q96JB8.
PharmGKBi PA30927.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0194.
HOGENOMi HOG000233034.
HOVERGENi HBG001858.
InParanoidi Q96JB8.
OMAi EDPAIPC.
OrthoDBi EOG79CXZ5.
PhylomeDBi Q96JB8.
TreeFami TF314263.

Miscellaneous databases

GenomeRNAii 58538.
NextBioi 65122.
PROi Q96JB8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96JB8.
Bgeei Q96JB8.
CleanExi HS_MPP4.
Genevestigatori Q96JB8.

Family and domain databases

Gene3Di 2.30.42.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR008145. 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 ]
Pfami PF00625. Guanylate_kin. 1 hit.
PF02828. L27. 1 hit.
PF00595. PDZ. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view ]
SMARTi SM00072. GuKc. 1 hit.
SM00569. L27. 2 hits.
SM00228. PDZ. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
SSF50156. SSF50156. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEi 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiMPP4_HUMAN
AccessioniPrimary (citable) accession number: Q96JB8
Secondary accession number(s): C9IZK4
, Q53TT3, Q6ZNH6, Q96Q43, Q96Q44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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