Q9JIF9 (MYOTI_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myotilin

Alternative name(s):
Myofibrillar titin-like Ig domains protein
Titin immunoglobulin domain protein

Gene names

Name:	Myot
Synonyms:	Ttid

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	496 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells By similarity.
Subunit structure	Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC, and MYOZ2. Interacts with the C-terminal region of MYOZ1 By similarity.
Subcellular location	Cell membrane › sarcolemma By similarity. Cytoplasm › cytoskeleton By similarity. Cytoplasm › myofibril › sarcomere › Z line By similarity. Note: Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines of skeletal muscle By similarity.
Sequence similarities	Belongs to the myotilin/palladin family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Cytoskeleton Membrane
Domain	Immunoglobulin domain Repeat
Ligand	Actin-binding
Molecular function	Muscle protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Z disc Inferred from direct assay PubMed 19047374. Source: MGI cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	alpha-actinin binding Inferred from sequence orthology PubMed 10958653. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 496	496	Myotilin		PRO_0000072688
Regions
	Domain	248 – 333	86	Ig-like C2-type 1
	Domain	347 – 439	93	Ig-like C2-type 2
	Region	78 – 149	72	Necessary for interaction with ACTN1 By similarity
	Region	213 – 496	284	Necessary for interaction with ACTA1 By similarity
	Region	213 – 491	279	Necessary for interaction with FLNC By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q9JIF9 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: BC4E2C0537F091D3	FASTA	496	55,316
	10 20 30 40 50 60 MFNYERPKHF IQPQNPCGSR LQPPGPEVSG FPSQTKQSSI VIQPRQCTEQ RFSASSTVSS 70 80 90 100 110 120 HITVSSSAYP APQQLAGPNP GQKVTATYNQ SPASFLSSIL PSQPDYCNSK IPSTVDSNYQ 130 140 150 160 170 180 QSSVNQPVNA MSSQAANARP TPKTPDHEIQ GSKEALIQDL ERKLKCKDTL LHNGNQRLTY 190 200 210 220 230 240 EEKMARRLLG PQNAAAVFQA QNSDVQDSPQ HNPEQARLHV PTSQVRSRSS SRAEANDQDA 250 260 270 280 290 300 IQEKFYPPRF IQVPENMSIE EGRFCRMDFK VSGLPAPDVS WYLNGRPVQS DELHKMIVSE 310 320 330 340 350 360 KGFHSLIFEV VRASDAGPYA CVARNRAGEA TFTVQLDVLA KEHKRAPMFI FKPQSKKVFE 370 380 390 400 410 420 GETVKLECQI SAIPPPKLFW KRNNEMVQFN TDRISLYHDN AGRVTLLIKD VNKKDAGWYT 430 440 450 460 470 480 VSAVNEAGVT TCNTRLDVTA RPIQTLPAPK QLRVRPTFSK YLALNGRGLD VKQAFNPEGE 490 FQRLAAQSGL YESEEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A." Mologni L., Salmikangas P., Fougerousse F., Beckmann J.S., Carpen O. Mech. Dev. 103:121-125(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle.
[2]	"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]. Strain: FVB/N. Tissue: Mammary gland.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF230979 mRNA. Translation: AAF76465.1. BC016214 mRNA. Translation: AAH16214.1.
IPI	IPI00120508.
RefSeq	NP_001028793.1. NM_001033621.3.
UniGene	Mm.143804.
3D structure databases
ProteinModelPortal	Q9JIF9.
SMR	Q9JIF9. Positions 247-492.
ModBase	Search...
PTM databases
PhosphoSite	Q9JIF9.
Proteomic databases
PRIDE	Q9JIF9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000025349; ENSMUSP00000025349; ENSMUSG00000024471. ENSMUST00000115498; ENSMUSP00000111160; ENSMUSG00000024471.
GeneID	58916.
KEGG	mmu:58916.
Organism-specific databases
CTD	9499.
MGI	MGI:1889800. Myot.
Phylogenomic databases
eggNOG	NOG147321.
GeneTree	ENSGT00690000101977.
HOGENOM	HOG000028074.
HOVERGEN	HBG066530.
InParanoid	Q9JIF9.
OMA	DSVKLEC.
OrthoDB	EOG4NVZM2.
Gene expression databases
ArrayExpress	Q9JIF9.
Bgee	Q9JIF9.
CleanEx	MM_MYOT.
Genevestigator	Q9JIF9.
GermOnline	ENSMUSG00000024471. Mus musculus.
Family and domain databases
Gene3D	2.60.40.10. 3 hits.
InterPro	IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. [Graphical view]
Pfam	PF07679. I-set. 2 hits. [Graphical view]
SMART	SM00409. IG. 1 hit. SM00408. IGc2. 1 hit. [Graphical view]
PROSITE	PS50835. IG_LIKE. 2 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	314480.
SOURCE	Search...

Entry information

Entry name

MYOTI_MOUSE

Accession

Primary (citable) accession number: Q9JIF9

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 94 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program