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TTN titin [ Homo sapiens (human) ]

Gene ID: 7273, updated on 12-Aug-2018

Summary

Official Symbol
TTNprovided by HGNC
Official Full Name
titinprovided by HGNC
Primary source
HGNC:HGNC:12403
See related
Ensembl:ENSG00000155657 MIM:188840; Vega:OTTHUMG00000154448
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; SALMY; LGMD2J
Summary
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
Expression
Biased expression in heart (RPKM 14.7), prostate (RPKM 1.9) and 1 other tissue See more
Orthologs

Genomic context

See TTN in Genome Data Viewer
Location:
2q31.2
Exon count:
365
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (178525989..178807423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179390716..179672150, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pejvakin Neighboring gene FK506 binding protein 7 Neighboring gene pleckstrin homology domain containing A3 Neighboring gene TTN antisense RNA 1 Neighboring gene uncharacterized LOC101927055 Neighboring gene RNA, U7 small nuclear 104 pseudogene Neighboring gene coiled-coil domain containing 141 Neighboring gene uncharacterized LOC105373766

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dilated cardiomyopathy 1G Compare labs
Distal myopathy Markesbery-Griggs type
MedGen: C1838244 OMIM: 600334 GeneReviews: Udd Distal Myopathy
Compare labs
Familial hypertrophic cardiomyopathy 9
MedGen: C1861065 OMIM: 613765 GeneReviews: Not available
Compare labs
Hereditary myopathy with early respiratory failure Compare labs
Limb-girdle muscular dystrophy, type 2J
MedGen: C1837342 OMIM: 608807 GeneReviews: Not available
Compare labs
Myopathy, early-onset, with fatal cardiomyopathy
MedGen: C2673677 OMIM: 611705 GeneReviews: Salih Myopathy
Compare labs
Primary dilated cardiomyopathy Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
NHGRI GWA Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog

Pathways from BioSystems

  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, DKFZp451N061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
actinin binding IDA
Inferred from Direct Assay
more info
PubMed 
actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calmodulin binding TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
muscle alpha-actinin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle alpha-actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
structural molecule activity conferring elasticity TAS
Traceable Author Statement
more info
PubMed 
telethonin binding IPI
Inferred from Physical Interaction
more info
PubMed 
telethonin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of muscle stretch IDA
Inferred from Direct Assay
more info
PubMed 
detection of muscle stretch TAS
Traceable Author Statement
more info
PubMed 
mitotic chromosome condensation IEP
Inferred from Expression Pattern
more info
PubMed 
muscle contraction NAS
Non-traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase A signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomerogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle myosin thick filament assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle thin filament assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
titin
Names
connectin
rhabdomyosarcoma antigen MU-RMS-40.14
NP_001243779.1
NP_001254479.2
NP_003310.4
NP_596869.4
NP_596870.2
NP_597676.3
NP_597681.4
XP_016860308.1
XP_016860309.1
XP_016860310.1
XP_016860311.1
XP_016860312.1
XP_024308862.1
XP_024308863.1
XP_024308864.1
XP_024308865.1
XP_024308866.1
XP_024308867.1
XP_024308868.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011618.3 RefSeqGene

    Range
    28380..309814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_391

mRNA and Protein(s)

  1. NM_001256850.1NP_001243779.1  titin isoform N2BA

    See identical proteins and their annotated locations for NP_001243779.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS74610.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000483597.1, ENST00000615779.5
    Conserved Domains (16) summary
    cd00096
    Location:58995968
    Ig; Immunoglobulin domain
    cd05747
    Location:3348533576
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2172021791
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:46784744
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:1642516509
    FN3; Fibronectin type 3 domain
    smart00220
    Location:3217832432
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2023220312
    IG; Immunoglobulin
    smart00410
    Location:2820728289
    IG_like; Immunoglobulin like
    cd00063
    Location:2582925921
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88888977
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3217732453
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:68246907
    ig; Immunoglobulin domain
    pfam02818
    Location:1095510981
    PPAK; PPAK motif
    pfam05104
    Location:1012010296
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam13895
    Location:1339813462
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2456924642
    Ig; Immunoglobulin domain
  2. NM_001267550.2NP_001254479.2  titin isoform IC

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199, KF459616
    Consensus CDS
    CCDS59435.1
    UniProtKB/TrEMBL
    A0A0A0MTS7
    Related
    ENSP00000467141.1, OTTHUMP00000263894, ENST00000589042.5, OTTHUMT00000450680
    Conserved Domains (17) summary
    cd00096
    Location:73407409
    Ig; Immunoglobulin domain
    cd05747
    Location:3512635217
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2256722640
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:49955061
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:1806618150
    FN3; Fibronectin type 3 domain
    smart00220
    Location:3381934073
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2187321953
    IG; Immunoglobulin
    smart00410
    Location:2984829930
    IG_like; Immunoglobulin like
    cd00063
    Location:2747027562
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:92059294
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3381834094
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:71417224
    ig; Immunoglobulin domain
    pfam02818
    Location:1127211298
    PPAK; PPAK motif
    pfam05104
    Location:1043710613
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam13895
    Location:1503915103
    Ig_2; Immunoglobulin domain
    pfam16031
    Location:1228612406
    TonB_N; TonB N-terminal region
    cl11960
    Location:2621026283
    Ig; Immunoglobulin domain
  3. NM_003319.4NP_003310.4  titin isoform N2-B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54421.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000434586.1, OTTHUMP00000233810, ENST00000460472.6, OTTHUMT00000335575
    Conserved Domains (13) summary
    cd00096
    Location:2405324120
    Ig; Immunoglobulin domain
    cd05747
    Location:2606126152
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1429614367
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:910976
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:90019085
    FN3; Fibronectin type 3 domain
    smart00220
    Location:2475425008
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1782317904
    IG; Immunoglobulin
    smart00410
    Location:2078320865
    IG_like; Immunoglobulin like
    cd00063
    Location:1840518497
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2475325029
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam13895
    Location:59746038
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1714517218
    Ig; Immunoglobulin domain
  4. NM_133378.4NP_596869.4  titin isoform N2-A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54424.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000343764.6, OTTHUMP00000233809, ENST00000342992.10, OTTHUMT00000335574
    Conserved Domains (16) summary
    cd00096
    Location:49725041
    Ig; Immunoglobulin domain
    cd05747
    Location:3255832649
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1999920072
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:37513817
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:1549815582
    FN3; Fibronectin type 3 domain
    smart00220
    Location:3125131505
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2728027362
    IG; Immunoglobulin
    smart00410
    Location:1930519385
    IG_like; Immunoglobulin like
    cd00063
    Location:2490224994
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:79618050
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3125031526
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:58975980
    ig; Immunoglobulin domain
    pfam02818
    Location:1002810054
    PPAK; PPAK motif
    pfam05104
    Location:91939369
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam13895
    Location:1247112535
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2364223715
    Ig; Immunoglobulin domain
  5. NM_133379.4NP_596870.2  titin isoform novex-3

    See identical proteins and their annotated locations for NP_596870.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-3) is the shortest transcript and encodes the shortest isoform (novex-3). Its last exon is nearly 8 kb and is not found in the other variants. The novex-3 isoform, which is found in all striated muscle, lacks the PEVK region and has a C-terminal truncation compared to longer isoforms. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC023270, BX537998
    Consensus CDS
    CCDS33337.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    UniProtKB/TrEMBL
    Q7Z3B7
    Related
    ENSP00000354117.4, OTTHUMP00000205904, ENST00000360870.9, OTTHUMT00000335713
    Conserved Domains (6) summary
    cd00096
    Location:35213594
    Ig; Immunoglobulin domain
    smart00408
    Location:9561022
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:31543233
    IG_like; Immunoglobulin like
    pfam07679
    Location:697
    I-set; Immunoglobulin I-set domain
    pfam09042
    Location:468491
    Titin_Z; Titin Z
    cl11960
    Location:2697
    Ig; Immunoglobulin domain
  6. NM_133432.3NP_597676.3  titin isoform novex-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54423.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000352154.5, ENST00000359218.10
    Conserved Domains (13) summary
    cd00096
    Location:2417824245
    Ig; Immunoglobulin domain
    cd05747
    Location:2618626277
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1442114492
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:910976
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:91269210
    FN3; Fibronectin type 3 domain
    smart00220
    Location:2487925133
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1686516945
    IG; Immunoglobulin
    smart00410
    Location:2090820990
    IG_like; Immunoglobulin like
    cd00063
    Location:1853018622
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2487825154
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam13895
    Location:60996163
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1727017343
    Ig; Immunoglobulin domain
  7. NM_133437.4NP_597681.4  titin isoform novex-2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199, KF459616
    Consensus CDS
    CCDS54422.1
    UniProtKB/TrEMBL
    A0A0A0MRA3
    Related
    ENSP00000340554.6, ENST00000342175.11
    Conserved Domains (13) summary
    cd00096
    Location:2424524312
    Ig; Immunoglobulin domain
    cd05747
    Location:2625326344
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1448814559
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:910976
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:91939277
    FN3; Fibronectin type 3 domain
    smart00220
    Location:2494625200
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1693217012
    IG; Immunoglobulin
    smart00410
    Location:2097521057
    IG_like; Immunoglobulin like
    cd00063
    Location:1859718689
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2494525221
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam13895
    Location:61666230
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1733717410
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    178525989..178807423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004821.1XP_016860310.1  titin isoform X5

  2. XM_017004820.1XP_016860309.1  titin isoform X4

  3. XM_024453099.1XP_024308867.1  titin isoform X11

    Conserved Domains (11) summary
    cd05747
    Location:2609126182
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:90319115
    FN3; Fibronectin type 3 domain
    smart00409
    Location:60046068
    IG; Immunoglobulin
    smart00410
    Location:47534823
    IG_like; Immunoglobulin like
    cd00063
    Location:1843518527
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2478325059
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    cd05748
    Location:1353213605
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2150821581
    Ig; Immunoglobulin domain
    cl26511
    Location:413725
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:20792169
    I-set; Immunoglobulin I-set domain
  4. XM_017004823.1XP_016860312.1  titin isoform X10

  5. XM_024453098.1XP_024308866.1  titin isoform X9

    Conserved Domains (14) summary
    cd05747
    Location:3217032261
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:1511015194
    FN3; Fibronectin type 3 domain
    smart00409
    Location:1208312147
    IG; Immunoglobulin
    smart00410
    Location:1092510989
    IG_like; Immunoglobulin like
    cd00063
    Location:2451424606
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88898978
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3086231138
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam05104
    Location:1012110297
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam16031
    Location:1021110304
    TonB_N; TonB N-terminal region
    cd05748
    Location:1961119684
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2433624410
    Ig; Immunoglobulin domain
    cl26464
    Location:1021110556
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:413725
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:96739755
    I-set; Immunoglobulin I-set domain
  6. XM_024453097.1XP_024308865.1  titin isoform X8

    Conserved Domains (13) summary
    cd05747
    Location:3219732288
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:1513715221
    FN3; Fibronectin type 3 domain
    smart00410
    Location:1211012174
    IG_like; Immunoglobulin like
    cd00063
    Location:2454124633
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88898978
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3088931165
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam02818
    Location:1044610472
    PPAK; PPAK motif
    pfam16031
    Location:1021110301
    TonB_N; TonB N-terminal region
    cd05748
    Location:1963819711
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2436324437
    Ig; Immunoglobulin domain
    cl26464
    Location:1020710496
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:996110336
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:96739755
    I-set; Immunoglobulin I-set domain
  7. XM_017004822.1XP_016860311.1  titin isoform X7

  8. XM_024453096.1XP_024308864.1  titin isoform X6

    Conserved Domains (15) summary
    cd05747
    Location:3308333174
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:1602316107
    FN3; Fibronectin type 3 domain
    smart00409
    Location:1299613060
    IG; Immunoglobulin
    smart00410
    Location:1174511815
    IG_like; Immunoglobulin like
    COG0810
    Location:1021010335
    TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]
    cd00063
    Location:2542725519
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88898978
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3177532051
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam02818
    Location:1076610792
    PPAK; PPAK motif
    cd05748
    Location:2052420597
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2850028573
    Ig; Immunoglobulin domain
    cl25526
    Location:1109711187
    TonB_N; TonB N-terminal region
    cl26464
    Location:1071511185
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:1011410669
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:91779267
    I-set; Immunoglobulin I-set domain
  9. XM_024453094.1XP_024308862.1  titin isoform X2

    Conserved Domains (15) summary
    cd05747
    Location:3327333364
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:1621316297
    FN3; Fibronectin type 3 domain
    smart00409
    Location:1318613250
    IG; Immunoglobulin
    smart00410
    Location:1193512005
    IG_like; Immunoglobulin like
    COG0810
    Location:1021010335
    TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]
    cd00063
    Location:2561725709
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88898978
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3196532241
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam02818
    Location:1095610982
    PPAK; PPAK motif
    cd05748
    Location:2071420787
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2869028763
    Ig; Immunoglobulin domain
    cl25526
    Location:1128711377
    TonB_N; TonB N-terminal region
    cl26464
    Location:250375
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:1011410663
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:91779267
    I-set; Immunoglobulin I-set domain
  10. XM_024453095.1XP_024308863.1  titin isoform X3

    Conserved Domains (15) summary
    cd05747
    Location:3327233363
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:1621216296
    FN3; Fibronectin type 3 domain
    smart00409
    Location:1318513249
    IG; Immunoglobulin
    smart00410
    Location:1193412004
    IG_like; Immunoglobulin like
    COG0810
    Location:1021010335
    TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]
    cd00063
    Location:2561625708
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:88898978
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3196432240
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam02818
    Location:1095610982
    PPAK; PPAK motif
    cd05748
    Location:2071320786
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:2868928762
    Ig; Immunoglobulin domain
    cl25526
    Location:1128611376
    TonB_N; TonB N-terminal region
    cl26464
    Location:250375
    Atrophin-1; Atrophin-1 family
    cl26511
    Location:1011410663
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28434
    Location:91779267
    I-set; Immunoglobulin I-set domain
  11. XM_017004819.1XP_016860308.1  titin isoform X1

  12. XM_024453100.1XP_024308868.1  titin isoform X12

    Conserved Domains (13) summary
    cd05747
    Location:2270922800
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
    smart00060
    Location:56495733
    FN3; Fibronectin type 3 domain
    smart00409
    Location:26222686
    IG; Immunoglobulin
    smart00410
    Location:13711441
    IG_like; Immunoglobulin like
    cd00063
    Location:1505315145
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:2068420771
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2140121677
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam02818
    Location:734760
    PPAK; PPAK motif
    cd05748
    Location:1015010223
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    cl11960
    Location:1379313866
    Ig; Immunoglobulin domain
    cl25526
    Location:723813
    TonB_N; TonB N-terminal region
    cl26464
    Location:40488
    Atrophin-1; Atrophin-1 family
    cl28434
    Location:18141897
    I-set; Immunoglobulin I-set domain
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