P0CAP1 (MYZAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 40.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myocardial zonula adherens protein Alternative name(s): GRINL1A upstream protein Short name=Gup | ||||
| Gene names |
| ||||
| 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 | 466 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF By similarity. Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 By similarity. |
| Subunit structure | Interacts with DSP, MPRIP and TJP1/ZO1. Interaction with MPRIP inhibits the activation of transcription factor SRF By similarity. Interacts with GRIN1. Interacts with DYNLL1. Ref.7 Ref.8 Ref.9 |
| Subcellular location | Cytoplasm › cytoskeleton By similarity. Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Cytoplasm › myofibril › sarcomere › I band By similarity. Cytoplasm › myofibril › sarcomere › Z line By similarity. Cell junction. Note: Detected predominantly at the intercalated disk in cardiomyocytes, and at low levels on sarcomeric Z disks. Colocalizes with F-actin. Colocalizes with cortical actin By similarity. Ref.7 Ref.9 |
| Tissue specificity | Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis. Ref.1 Ref.2 |
| Miscellaneous | The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene. |
| Sequence similarities | Belongs to the MYZAP family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cell membrane Cytoplasm Cytoskeleton Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Signal |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | intracellular signal transduction Inferred from sequence or structural similarity. Source: UniProtKB |
| Cellular_component | I band Inferred from sequence or structural similarity. Source: UniProtKB Z discInferred from electronic annotation. Source: UniProtKB-SubCell cell junctionInferred from electronic annotation. Source: UniProtKB-SubCell cytoskeletonInferred from electronic annotation. Source: UniProtKB-SubCell extrinsic to internal side of plasma membraneInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 11 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: P0CAP1-1) Also known as: Gcom8; Gup1; 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: P0CAP1-2) Also known as: Gcom2; The sequence of this isoform differs from the canonical sequence as follows: 435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RRCKQSSQRKN | ||||||
| Isoform 3 (identifier: P0CAP1-3) Also known as: Gcom13; The sequence of this isoform differs from the canonical sequence as follows: 108-138: Missing. | ||||||
| Isoform 4 (identifier: P0CAP1-4) Also known as: Gcom9; Gup2; The sequence of this isoform differs from the canonical sequence as follows: 374-401: Missing. | ||||||
| Isoform 5 (identifier: P0CAP1-5) Also known as: Gcom10; The sequence of this isoform differs from the canonical sequence as follows: 375-466: ESLKKKLQQK...LELTMKKTLT → MSHELFSRFSLRLFGR | ||||||
| Isoform 6 (identifier: P0CAP1-6) Also known as: Gcom3; The sequence of this isoform differs from the canonical sequence as follows: 402-466: NNELQSRLDY...LELTMKKTLT → GRKGLKGRLKMSC | ||||||
| Isoform 7 (identifier: P0CAP1-7) Also known as: Gcom4; The sequence of this isoform differs from the canonical sequence as follows: 402-466: NNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → VTFSTK | ||||||
| Isoform 8 (identifier: P0CAP1-8) Also known as: Gcom5; The sequence of this isoform differs from the canonical sequence as follows: 374-466: IESLKKKLQQ...LELTMKKTLT → VTFSTK | ||||||
| Isoform 9 (identifier: P0CAP1-9) Also known as: Gcom6; The sequence of this isoform differs from the canonical sequence as follows: 108-138: Missing. 374-401: Missing. 435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RQSRKFEKVLNEFVQLLPLPHHLLWAFGNVCWRRHFGLLQ | ||||||
| Isoform 10 (identifier: P0CAP1-10) Also known as: Gcom11; The sequence of this isoform differs from the canonical sequence as follows: 107-175: Missing. | ||||||
| Isoform 11 (identifier: P0CAP1-11) Also known as: Gcom1; GRINL1A complex locus protein 1; The sequence of this isoform differs from the canonical sequence as follows: 435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RLPFRQNDSS...EDDDWSSDEF | ||||||
| Note: Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 20 | 20 | Potential | ||||||||
| Chain | 21 – 466 | 446 | Myocardial zonula adherens protein | PRO_0000376013 | |||||||
Regions | |||||||||||
| Coiled coil | 96 – 142 | 47 | Potential | ||||||||
| Coiled coil | 174 – 418 | 245 | Potential | ||||||||
| Motif | 424 – 425 | 2 | Required for DYNLL1-binding | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 5 | 1 | Phosphothreonine By similarity | ||||||||
| Modified residue | 6 | 1 | Phosphoserine By similarity | ||||||||
Natural variations | |||||||||||
| Alternative sequence | 107 – 175 | 69 | Missing in isoform 10. | VSP_037389 | |||||||
| Alternative sequence | 108 – 138 | 31 | Missing in isoform 9 and isoform 3. | VSP_037390 | |||||||
| Alternative sequence | 374 – 466 | 93 | IESLK…KKTLT → VTFSTK in isoform 8. | VSP_037391 | |||||||
| Alternative sequence | 374 – 401 | 28 | Missing in isoform 4 and isoform 9. | VSP_037392 | |||||||
| Alternative sequence | 375 – 466 | 92 | ESLKK…KKTLT → MSHELFSRFSLRLFGR in isoform 5. | VSP_037393 | |||||||
| Alternative sequence | 402 – 466 | 65 | NNELQ…KKTLT → GRKGLKGRLKMSC in isoform 6. | VSP_037394 | |||||||
| Alternative sequence | 402 – 466 | 65 | NNELQ…KKTLT → VTFSTK in isoform 7. | VSP_037395 | |||||||
| Alternative sequence | 435 – 466 | 32 | SQTGR…KKTLT → RLPFRQNDSSSHCQKSGSPI SSEERRRRDKQHLDDITAAR LLPLHHMPTQLLSIEESLAL QKQQKQNYEEMQAKLAAQKL AERLNIKMRSYNPEGESSGR YREVRDEDDDWSSDEF in isoform 11. | VSP_037397 | |||||||
| Alternative sequence | 435 – 466 | 32 | SQTGR…KKTLT → RRCKQSSQRKN in isoform 2. | VSP_037398 | |||||||
| Alternative sequence | 435 – 466 | 32 | SQTGR…KKTLT → RQSRKFEKVLNEFVQLLPLP HHLLWAFGNVCWRRHFGLLQ in isoform 9. | VSP_037396 | |||||||
| Natural variant | 277 | 1 | A → V. Ref.2 Ref.3 Corresponds to variant rs16977629 [ dbSNP | Ensembl ]. | VAR_055453 | |||||||
Experimental info | |||||||||||
| Mutagenesis | 436 | 1 | Q → G: No effect on DYNLL1-binding; when associated with G-448. Ref.8 | ||||||||
| Mutagenesis | 448 | 1 | R → G: No effect on DYNLL1-binding; when associated with G-436. Ref.8 | ||||||||
| Mutagenesis | 450 | 1 | Y → G: No effect on DYNLL1-binding. Ref.8 | ||||||||
| Sequence conflict | 144 – 146 | 3 | Missing in ADA68358. Ref.2 | ||||||||
Secondary structure | |||||||||||
Helix Strand Turn | |||||||||||
| Beta strand | 70 – 77 | 8 | |||||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes." Roginski R.S., Mohan Raj B.K., Birditt B., Rowen L. Genomics 84:265-276(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11), TISSUE SPECIFICITY. Tissue: Brain and Lung. |
| [2] | "Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo." Seeger T.S., Frank D., Rohr C., Will R., Just S., Grund C., Lyon R., Luedde M., Koegl M., Sheikh F., Rottbauer W., Franke W.W., Katus H.A., Olson E.N., Frey N. Circ. Res. 106:880-890(2010) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-277, TISSUE SPECIFICITY. |
| [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 1), VARIANT VAL-277. Tissue: Heart. |
| [4] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain cortex. |
| [7] | "GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity." Roginski R.S., Goubaeva F., Mikami M., Fried-Cassorla E., Nair M.R., Yang J. NeuroReport 19:1721-1726(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GRIN1, SUBCELLULAR LOCATION. |
| [8] | "Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A." Garcia-Mayoral M.F., Martinez-Moreno M., Albar J.P., Rodriguez-Crespo I., Bruix M. FEBS J. 277:2340-2350(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DYNLL1, MUTAGENESIS OF GLN-436; ARG-448 AND TYR-450. |
| [9] | "Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration." Huo L., Wen W., Wang R., Kam C., Xia J., Feng W., Zhang M. EMBO J. 30:665-678(2011) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 70-79 IN COMPLEX WITH TJP1, SUBCELLULAR LOCATION, INTERACTION WITH TJP1. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AY207007 mRNA. Translation: AAO39707.1. AY207459 mRNA. Translation: AAP41548.1. AY208913 mRNA. Translation: AAP41549.1. AY237639 mRNA. Translation: AAP75897.1. AY331564 mRNA. Translation: AAQ76825.1. AY333779 mRNA. Translation: AAQ76826.1. AY334560 mRNA. Translation: AAQ76827.1. AY334561 mRNA. Translation: AAQ76828.1. AY334562 mRNA. Translation: AAQ76829.1. AY341345 mRNA. Translation: AAQ76831.1. AY353056 mRNA. Translation: AAQ76832.1. AY353057 mRNA. Translation: AAQ76833.1. AY353058 mRNA. Translation: AAQ76834.1. AY353060 mRNA. Translation: AAQ76836.1. FJ970029 mRNA. Translation: ADA68358.1. AK055535 mRNA. Translation: BAB70944.1. AC025271 Genomic DNA. No translation available. AC090651 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77522.1. CH471082 Genomic DNA. Translation: EAW77527.1. BC101645 mRNA. Translation: AAI01646.1. BC112148 mRNA. Translation: AAI12149.1. | ||||||||||||
| IPI | IPI00427956. IPI00455411. IPI00455420. IPI00550577. IPI00550600. IPI00619933. IPI00619949. IPI00887423. IPI00887584. IPI00887916. IPI00889014. | ||||||||||||
| RefSeq | NP_001018100.1. NM_001018090.4. NP_001018101.1. NM_001018091.4. NP_001018110.1. NM_001018100.3. NP_001018112.1. NM_001018102.1. NP_689664.3. NM_152451.6. | ||||||||||||
| UniGene | Hs.437256. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | P0CAP1. | ||||||||||||
| SMR | P0CAP1. Positions 352-377. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| MINT | MINT-1370040. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P0CAP1. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 238064959. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | P0CAP1. | ||||||||||||
| PRIDE | P0CAP1. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 81488. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000267853; ENSP00000267853; ENSG00000263155. ENST00000380565; ENSP00000369939; ENSG00000263155. | ||||||||||||
| GeneID | 100820829. 145781. 81488. | ||||||||||||
| KEGG | hsa:100820829. hsa:145781. hsa:81488. | ||||||||||||
| UCSC | uc002aei.3. human. uc002aej.3. human. uc002aem.3. human. uc002aeo.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 100820829. 145781. 81488. | ||||||||||||
| GeneCards | GC15P057887. | ||||||||||||
| HGNC | HGNC:43444. MYZAP. | ||||||||||||
| HPA | HPA039827. | ||||||||||||
| MIM | 614071. gene. | ||||||||||||
| neXtProt | NX_P0CAP1. | ||||||||||||
| PharmGKB | PA28986. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG81402. | ||||||||||||
| OMA | MEKERHQ. | ||||||||||||
| PhylomeDB | P0CAP1. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P0CAP1. | ||||||||||||
| Bgee | P0CAP1. | ||||||||||||
| Genevestigator | P0CAP1. | ||||||||||||
Family and domain databases | |||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | MYZAP. human. | ||||||||||||
| EvolutionaryTrace | P0CAP1. | ||||||||||||
| NextBio | 71714. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | MYZAP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P0CAP1 Secondary accession number(s): D2E9U7 Q96NF5 | ||||||||
| Entry history |
| ||||||||
| 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 15 Human chromosome 15: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
