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Protein

Myocardial zonula adherens protein

Gene

MYZAP

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

Functioni

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).By similarity

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31245-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Myocardial zonula adherens protein
Alternative name(s):
GRINL1A upstream protein
Short name:
Gup
Gene namesi
Name:MYZAP
Synonyms:MYOZAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:43444. MYZAP.

Subcellular locationi

  • Cytoplasmcytoskeleton By similarity
  • Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • CytoplasmmyofibrilsarcomereI band By similarity
  • CytoplasmmyofibrilsarcomereZ line By similarity
  • Cell junction 2 Publications

  • 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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi436Q → G: No effect on DYNLL1-binding; when associated with G-448. 1 Publication1
Mutagenesisi448R → G: No effect on DYNLL1-binding; when associated with G-436. 1 Publication1
Mutagenesisi450Y → G: No effect on DYNLL1-binding. 1 Publication1

Organism-specific databases

DisGeNETi100820829.
145781.
81488.
OpenTargetsiENSG00000137878.
ENSG00000263155.
PharmGKBiPA28986.

Polymorphism and mutation databases

BioMutaiMYZAP.
DMDMi238064959.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000037601321 – 466Myocardial zonula adherens proteinAdd BLAST446

Proteomic databases

MaxQBiP0CAP1.
PaxDbiP0CAP1.
PeptideAtlasiP0CAP1.
PRIDEiP0CAP1.
TopDownProteomicsiP0CAP1-7. [P0CAP1-7]

PTM databases

iPTMnetiP0CAP1.
PhosphoSitePlusiP0CAP1.

Expressioni

Tissue specificityi

Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis.2 Publications

Gene expression databases

BgeeiENSG00000263155.
ExpressionAtlasiP0CAP1. baseline and differential.
GenevisibleiP0CAP1. HS.

Organism-specific databases

HPAiHPA039827.

Interactioni

Subunit structurei

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.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DYNLL1P631676EBI-7929343,EBI-349105

Protein-protein interaction databases

BioGridi123498. 56 interactors.
126937. 2 interactors.
IntActiP0CAP1. 3 interactors.
MINTiMINT-1370040.
STRINGi9606.ENSP00000267853.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KXSNMR-A70-79[»]
ProteinModelPortaliP0CAP1.
SMRiP0CAP1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP0CAP1.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili96 – 142Sequence analysisAdd BLAST47
Coiled coili174 – 418Sequence analysisAdd BLAST245

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi424 – 425Required for DYNLL1-binding2

Sequence similaritiesi

Belongs to the MYZAP family.Curated

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410II7W. Eukaryota.
ENOG410ZUQB. LUCA.
GeneTreeiENSGT00530000063232.
InParanoidiP0CAP1.
OrthoDBiEOG091G01MP.
PhylomeDBiP0CAP1.

Family and domain databases

InterProiIPR028273. Myozap.
[Graphical view]
PANTHERiPTHR23171:SF2. PTHR23171:SF2. 1 hit.

Sequences (11)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 11 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P0CAP1-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE
60 70 80 90 100
RKEQLLDLSN GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE
110 120 130 140 150
MNYIKDVRAT LEKVRKRMYG DYDEMRQKIR QLTQELSVSH AQQEYLENHI
160 170 180 190 200
QTQSSALDRF NAMNSALASD SIGLQKTLVD VTLENSNIKD QIRNLQQTYE
210 220 230 240 250
ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE MTKKLYSQYE
260 270 280 290 300
EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG
310 320 330 340 350
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR
360 370 380 390 400
ERIRHLDDMV HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG
410 420 430 440 450
ENNELQSRLD YLTETQAKTE VETREIGVGC DLLPSQTGRT REIVMPSRNY
460
TPYTRVLELT MKKTLT
Length:466
Mass (Da):54,206
Last modified:May 26, 2009 - v1
Checksum:i2A6B9C464B8641B4
GO
Isoform 2 (identifier: P0CAP1-2) [UniParc]FASTAAdd to basket
Also known as: Gcom2

The sequence of this isoform differs from the canonical sequence as follows:
     435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RRCKQSSQRKN

Show »
Length:445
Mass (Da):51,824
Checksum:iB5586CECD9FE1E47
GO
Isoform 3 (identifier: P0CAP1-3) [UniParc]FASTAAdd to basket
Also known as: Gcom13

The sequence of this isoform differs from the canonical sequence as follows:
     108-138: Missing.

Show »
Length:435
Mass (Da):50,381
Checksum:i50120C5144877080
GO
Isoform 4 (identifier: P0CAP1-4) [UniParc]FASTAAdd to basket
Also known as: Gcom9, Gup2

The sequence of this isoform differs from the canonical sequence as follows:
     374-401: Missing.

Show »
Length:438
Mass (Da):50,913
Checksum:iC87A8E4F6C075852
GO
Isoform 5 (identifier: P0CAP1-5) [UniParc]FASTAAdd to basket
Also known as: Gcom10

The sequence of this isoform differs from the canonical sequence as follows:
     375-466: ESLKKKLQQK...LELTMKKTLT → MSHELFSRFSLRLFGR

Show »
Length:390
Mass (Da):45,519
Checksum:i8188CE8C6E4A4EBF
GO
Isoform 6 (identifier: P0CAP1-6) [UniParc]FASTAAdd to basket
Also known as: Gcom3

The sequence of this isoform differs from the canonical sequence as follows:
     402-466: NNELQSRLDY...LELTMKKTLT → GRKGLKGRLKMSC

Show »
Length:414
Mass (Da):48,149
Checksum:iA2F670D7A9752679
GO
Isoform 7 (identifier: P0CAP1-7) [UniParc]FASTAAdd to basket
Also known as: Gcom4

The sequence of this isoform differs from the canonical sequence as follows:
     402-466: NNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → VTFSTK

Show »
Length:407
Mass (Da):47,397
Checksum:i498D9F157C6B072E
GO
Isoform 8 (identifier: P0CAP1-8) [UniParc]FASTAAdd to basket
Also known as: Gcom5

The sequence of this isoform differs from the canonical sequence as follows:
     374-466: IESLKKKLQQ...LELTMKKTLT → VTFSTK

Show »
Length:379
Mass (Da):44,104
Checksum:i981B1A2DA4E222F9
GO
Isoform 9 (identifier: P0CAP1-9) [UniParc]FASTAAdd to basket
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

Show »
Length:415
Mass (Da):48,231
Checksum:iF58E12AF16EE9267
GO
Isoform 10 (identifier: P0CAP1-10) [UniParc]FASTAAdd to basket
Also known as: Gcom11

The sequence of this isoform differs from the canonical sequence as follows:
     107-175: Missing.

Show »
Length:397
Mass (Da):46,224
Checksum:i9F313D3BC8F5CBEF
GO
Isoform 11 (identifier: P0CAP1-11) [UniParc]FASTAAdd to basket
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.
Show »
Length:550
Mass (Da):64,046
Checksum:i6A30A8464C3EA8CB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti144 – 146Missing in ADA68358 (PubMed:20093627).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055453277A → V.2 PublicationsCorresponds to variant rs16977629dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037389107 – 175Missing in isoform 10. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_037390108 – 138Missing in isoform 9 and isoform 3. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_037391374 – 466IESLK…KKTLT → VTFSTK in isoform 8. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_037392374 – 401Missing in isoform 4 and isoform 9. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_037393375 – 466ESLKK…KKTLT → MSHELFSRFSLRLFGR in isoform 5. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_037394402 – 466NNELQ…KKTLT → GRKGLKGRLKMSC in isoform 6. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_037395402 – 466NNELQ…KKTLT → VTFSTK in isoform 7. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_037397435 – 466SQTGR…KKTLT → RLPFRQNDSSSHCQKSGSPI SSEERRRRDKQHLDDITAAR LLPLHHMPTQLLSIEESLAL QKQQKQNYEEMQAKLAAQKL AERLNIKMRSYNPEGESSGR YREVRDEDDDWSSDEF in isoform 11. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_037398435 – 466SQTGR…KKTLT → RRCKQSSQRKN in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_037396435 – 466SQTGR…KKTLT → RQSRKFEKVLNEFVQLLPLP HHLLWAFGNVCWRRHFGLLQ in isoform 9. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10162.1. [P0CAP1-1]
CCDS42044.1. [P0CAP1-4]
RefSeqiNP_001018100.1. NM_001018090.6. [P0CAP1-11]
NP_001018101.1. NM_001018091.6. [P0CAP1-2]
NP_001018110.1. NM_001018100.4.
NP_001018112.1. NM_001018102.2.
NP_689664.3. NM_152451.7. [P0CAP1-4]
UniGeneiHs.437256.
Hs.702937.
Hs.711270.

Genome annotation databases

EnsembliENST00000267853; ENSP00000267853; ENSG00000263155. [P0CAP1-1]
ENST00000380565; ENSP00000369939; ENSG00000263155. [P0CAP1-4]
GeneIDi100820829.
145781.
81488.
KEGGihsa:100820829.
hsa:145781.
hsa:81488.
UCSCiuc002aei.4. human. [P0CAP1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10162.1. [P0CAP1-1]
CCDS42044.1. [P0CAP1-4]
RefSeqiNP_001018100.1. NM_001018090.6. [P0CAP1-11]
NP_001018101.1. NM_001018091.6. [P0CAP1-2]
NP_001018110.1. NM_001018100.4.
NP_001018112.1. NM_001018102.2.
NP_689664.3. NM_152451.7. [P0CAP1-4]
UniGeneiHs.437256.
Hs.702937.
Hs.711270.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KXSNMR-A70-79[»]
ProteinModelPortaliP0CAP1.
SMRiP0CAP1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123498. 56 interactors.
126937. 2 interactors.
IntActiP0CAP1. 3 interactors.
MINTiMINT-1370040.
STRINGi9606.ENSP00000267853.

PTM databases

iPTMnetiP0CAP1.
PhosphoSitePlusiP0CAP1.

Polymorphism and mutation databases

BioMutaiMYZAP.
DMDMi238064959.

Proteomic databases

MaxQBiP0CAP1.
PaxDbiP0CAP1.
PeptideAtlasiP0CAP1.
PRIDEiP0CAP1.
TopDownProteomicsiP0CAP1-7. [P0CAP1-7]

Protocols and materials databases

DNASUi81488.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267853; ENSP00000267853; ENSG00000263155. [P0CAP1-1]
ENST00000380565; ENSP00000369939; ENSG00000263155. [P0CAP1-4]
GeneIDi100820829.
145781.
81488.
KEGGihsa:100820829.
hsa:145781.
hsa:81488.
UCSCiuc002aei.4. human. [P0CAP1-1]

Organism-specific databases

CTDi100820829.
145781.
81488.
DisGeNETi100820829.
145781.
81488.
GeneCardsiMYZAP.
HGNCiHGNC:43444. MYZAP.
HPAiHPA039827.
MIMi614071. gene.
neXtProtiNX_P0CAP1.
OpenTargetsiENSG00000137878.
ENSG00000263155.
PharmGKBiPA28986.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II7W. Eukaryota.
ENOG410ZUQB. LUCA.
GeneTreeiENSGT00530000063232.
InParanoidiP0CAP1.
OrthoDBiEOG091G01MP.
PhylomeDBiP0CAP1.

Enzyme and pathway databases

BioCyciZFISH:G66-31245-MONOMER.

Miscellaneous databases

ChiTaRSiMYZAP. human.
EvolutionaryTraceiP0CAP1.
GeneWikiiGRINL1A.
PROiP0CAP1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000263155.
ExpressionAtlasiP0CAP1. baseline and differential.
GenevisibleiP0CAP1. HS.

Family and domain databases

InterProiIPR028273. Myozap.
[Graphical view]
PANTHERiPTHR23171:SF2. PTHR23171:SF2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMYZAP_HUMAN
AccessioniPrimary (citable) accession number: P0CAP1
Secondary accession number(s): D2E9U7
, Q6EER8, Q6EES2, Q6EEV3, Q6EF00, Q6EF01, Q6EF02, Q6EF46, Q6EFN8, Q6EM48, Q6K046, Q6K050, Q6K051, Q6ZQZ3, Q8NC58, Q8NCF3, Q96DI5, Q96JB7, Q96NF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 26, 2009
Last sequence update: May 26, 2009
Last modified: November 2, 2016
This is version 68 of the entry and version 1 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

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.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.