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Protein

Protein myomaker

Gene

MYMK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction. Associates with MYMX to promote myoblast fusion.1 Publication

GO - Biological processi

Keywordsi

Biological processMyogenesis

Protein family/group databases

TCDBi1.N.2.1.1. the myoblast fusion complex (mfc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein myomakerBy similarity
Alternative name(s):
Myoblast fusion makerBy similarity
Transmembrane protein 226
Transmembrane protein 8C
Gene namesi
Name:MYMKImported
Synonyms:TMEM226Imported, TMEM8CImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000187616.4.
HGNCiHGNC:33778. MYMK.
MIMi615345. gene.
neXtProtiNX_A6NI61.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21
Transmembranei65 – 85HelicalSequence analysisAdd BLAST21
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Transmembranei176 – 196HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Carey-Fineman-Ziter syndrome (CFZS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.
See also OMIM:254940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07926291P → T in CFZS; unknown pathological significance; supports cell fusion in a heterologous cell fusion assay in vitro; decreased localization at the plasma membrane; partially rescues of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. 1 PublicationCorresponds to variant dbSNP:rs137868995Ensembl.1
Natural variantiVAR_079263100G → S in CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish. 1 PublicationCorresponds to variant dbSNP:rs964335184Ensembl.1
Natural variantiVAR_079264154I → T in CFZS; decreased localization at the plasma membrane; reduced cell fusion in a heterologous cell fusion assay in vitro compared to wild-type; partially rescues of mymk knockout fish. 1 Publication1
Natural variantiVAR_079265185C → R in CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi254940. phenotype.
OpenTargetsiENSG00000187616.
PharmGKBiPA165586306.

Polymorphism and mutation databases

BioMutaiTMEM8C.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003190621 – 221Protein myomakerAdd BLAST221

Proteomic databases

PaxDbiA6NI61.
PRIDEiA6NI61.

PTM databases

iPTMnetiA6NI61.
PhosphoSitePlusiA6NI61.

Expressioni

Gene expression databases

BgeeiENSG00000187616.

Organism-specific databases

HPAiHPA051846.
HPA055785.

Interactioni

Subunit structurei

Interacts with MYMX.By similarity

Structurei

3D structure databases

ProteinModelPortaliA6NI61.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM8 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJAZ. Eukaryota.
ENOG410YFRW. LUCA.
GeneTreeiENSGT00390000004668.
HOGENOMiHOG000155572.
InParanoidiA6NI61.
OMAiMVYLFTM.
OrthoDBiEOG091G0KBQ.
PhylomeDBiA6NI61.

Family and domain databases

InterProiView protein in InterPro
IPR021910. NGX6/PGAP6/MYMK.
PANTHERiPTHR14319. PTHR14319. 1 hit.
PfamiView protein in Pfam
PF12036. DUF3522. 1 hit.

Sequencei

Sequence statusi: Complete.

A6NI61-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTLVAKLLL PTLSSLAFLP TVSIAAKRRF HMEAMVYLFT LFFVALHHAC
60 70 80 90 100
NGPGLSVLCF MRHDILEYFS VYGTALSMWV SLMALADFDE PKRSTFVMFG
110 120 130 140 150
VLTIAVRIYH DRWGYGVYSG PIGTAILIIA AKWLQKMKEK KGLYPDKSVY
160 170 180 190 200
TQQIGPGLCF GALALMLRFF FEDWDYTYVH SFYHCALAMS FVLLLPKVNK
210 220
KAGSPGTPAK LDCSTLCCAC V
Length:221
Mass (Da):24,699
Last modified:July 24, 2007 - v1
Checksum:i8A163CD15CC25290
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07926291P → T in CFZS; unknown pathological significance; supports cell fusion in a heterologous cell fusion assay in vitro; decreased localization at the plasma membrane; partially rescues of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. 1 PublicationCorresponds to variant dbSNP:rs137868995Ensembl.1
Natural variantiVAR_079263100G → S in CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish. 1 PublicationCorresponds to variant dbSNP:rs964335184Ensembl.1
Natural variantiVAR_079264154I → T in CFZS; decreased localization at the plasma membrane; reduced cell fusion in a heterologous cell fusion assay in vitro compared to wild-type; partially rescues of mymk knockout fish. 1 Publication1
Natural variantiVAR_079265185C → R in CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX324209 Genomic DNA. No translation available.
CCDSiCCDS35170.1.
RefSeqiNP_001073952.1. NM_001080483.2.
UniGeneiHs.512467.

Genome annotation databases

EnsembliENST00000339996; ENSP00000419712; ENSG00000187616.
GeneIDi389827.
KEGGihsa:389827.
UCSCiuc011mdk.2. human.

Similar proteinsi

Entry informationi

Entry nameiMYMK_HUMAN
AccessioniPrimary (citable) accession number: A6NI61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: July 24, 2007
Last modified: December 20, 2017
This is version 74 of the entry and version 1 of the sequence. See 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 9
    Human chromosome 9: 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