TITIN_HUMAN
Source: hRBCD ; ID: IPI00179357PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TTN
Protein names and data: TITIN_HUMAN , Titin; 2.7.11.1 , Connectin; Rhabdomyosarcoma antigen MU-RMS-40.14 Lenght: 34350 a.a.
Mass: 3816030 Da
fasta formatted sequence
Function: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
Disease: ( OMIM: 188840 600334 603689 604145 608807 611705 613765 ) Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. Note=The disease is caused by mutations affecting the gene represented in this entry. Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Note=The disease is caused by mutations affecting the gene represented in this entry. Early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:611705]: Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (Probable). Nucleus.
Tissue specificity: Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level).
Genetic variants
54 - 54 V -> M (in CMD1G; affects interaction with TCAP/telethonin). VAR_02668560 - 60 D -> Y (in dbSNP:rs35683768). VAR_040078 35683768
115 - 115 V -> M (in a metastatic melanoma sample; somatic mutation). VAR_040079
279 - 279 R -> W (in HMERF; disrupts NBR1-binding). VAR_026634
328 - 328 R -> C (in dbSNP:rs16866538). VAR_026686 16866538
360 - 360 R -> T (in dbSNP:rs56128843). VAR_040080 56128843
498 - 498 V -> I. VAR_040081
740 - 740 R -> L (in CMH9; dbSNP:rs28933405). VAR_026687 28933405
743 - 743 A -> V (in CMD1G; affects interaction with TCAP/telethonin). VAR_026688
799 - 799 T -> M (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040082
811 - 811 T -> I (in dbSNP:rs35813871). VAR_040083 35813871
922 - 922 R -> H (in dbSNP:rs56046320). VAR_040084 56046320
937 - 937 E -> D (in a gastric adenocarcinoma sample; somatic mutation). VAR_040085
976 - 976 W -> R (in CMD1G). VAR_026689
1081 - 1081 A -> T (in dbSNP:rs55914517). VAR_040086 55914517
1137 - 1137 G -> R. VAR_040087
1201 - 1201 K -> E (in dbSNP:rs10497520). VAR_040088 10497520
1202 - 1202 V -> A. VAR_040089
1249 - 1249 S -> L (in dbSNP:rs1552280). VAR_056081 1552280
1295 - 1295 S -> L (in dbSNP:rs1552280). VAR_040090 1552280
1345 - 1345 G -> D (in dbSNP:rs36021856). VAR_040091 36021856
1347 - 1347 A -> T (in a metastatic melanoma sample; somatic mutation). VAR_040092
1350 - 1350 R -> H (in a gastric adenocarcinoma sample; somatic mutation). VAR_040093
1353 - 1353 V -> L (in dbSNP:rs36062108). VAR_040094 36062108
1393 - 1393 I -> V (in dbSNP:rs16866531). VAR_040095 16866531
1416 - 1416 R -> C. VAR_040096
1441 - 1441 R -> P. VAR_040097
1544 - 1544 I -> V. VAR_040098
1572 - 1572 R -> Q (in dbSNP:rs12476289). VAR_040099 12476289
1658 - 1658 R -> G (in dbSNP:rs56270960). VAR_040100 56270960
1664 - 1664 R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation). VAR_040101
1692 - 1692 G -> D (in a lung squamous cell carcinoma sample; somatic mutation). VAR_040102
1744 - 1744 P -> L. VAR_040103
1772 - 1772 S -> G. VAR_040104
1907 - 1907 T -> I (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040105
1998 - 1998 R -> H. VAR_040106
2107 - 2107 P -> L (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040107
2118 - 2118 I -> T (in dbSNP:rs56404770). VAR_040108 56404770
2164 - 2164 A -> T (in dbSNP:rs56285559). VAR_040109 56285559
2240 - 2240 D -> Y. VAR_040110
2392 - 2392 G -> S (in dbSNP:rs4894048). VAR_040111 4894048
2432 - 2432 L -> F (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_040112
2610 - 2610 M -> I (in dbSNP:rs56142888). VAR_040113 56142888
2771 - 2771 I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation). VAR_040114
2823 - 2823 V -> F (in dbSNP:rs33917087). VAR_040115 33917087
2831 - 2831 S -> N (in dbSNP:rs2306636). VAR_040116 2306636
2930 - 2930 V -> I (in dbSNP:rs56373393). VAR_040117 56373393
3026 - 3026 N -> I (in dbSNP:rs11900987). VAR_056082 11900987
3154 - 3154 K -> R. VAR_040118
3191 - 3191 Q -> E. VAR_040119
3238 - 3238 P -> L (in a bladder carcinoma sample; somatic mutation). VAR_040120
3250 - 3250 V -> G. VAR_040121
3261 - 3261 V -> M. VAR_040122
3367 - 3367 R -> Q. VAR_040123
3419 - 3419 S -> N (in dbSNP:rs2291310). VAR_056083 2291310
3482 - 3482 E -> K (in a metastatic melanoma sample; somatic mutation). VAR_040124
3491 - 3491 P -> S. VAR_040125
3570 - 3570 E -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation). VAR_040126
3590 - 3590 L -> V. VAR_040127
3637 - 3637 P -> S (in dbSNP:rs2627037). VAR_056084 2627037
3762 - 3762 I -> V. VAR_040128
3799 - 3799 S -> Y (in CMD1G). VAR_026690
3877 - 3877 I -> F. VAR_040129
3965 - 3965 I -> L. VAR_040130
4084 - 4084 R -> Q. VAR_026691
4215 - 4215 T -> P. VAR_026635
4238 - 4238 G -> W. VAR_040131
4283 - 4283 L -> F. VAR_026636
4291 - 4291 I -> T (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040132
4303 - 4303 G -> D. VAR_040133
4427 - 4427 D -> E. VAR_040134
4465 - 4465 S -> N (in CMD1G). VAR_026692
8288 - 8288 A -> V (in dbSNP:rs16866412). VAR_056085 16866412
8474 - 8474 I -> T (in dbSNP:rs4893852). VAR_056086 4893852
12310 - 12310 G -> E. VAR_040135
12383 - 12383 H -> R. VAR_040136
12469 - 12469 V -> A. VAR_040137
12642 - 12642 R -> C (in a gastric adenocarcinoma sample; somatic mutation). VAR_040138
12657 - 12657 E -> K (in a Wilms tumor; somatic mutation). VAR_040139
12679 - 12679 K -> E. VAR_040140
12720 - 12720 S -> F (in a metastatic melanoma sample; somatic mutation). VAR_040141
12798 - 12798 R -> C. VAR_040142
13049 - 13049 E -> G. VAR_040143
13083 - 13083 E -> K (in a metastatic melanoma sample; somatic mutation). VAR_040144
13096 - 13096 R -> L. VAR_040145
13099 - 13099 Q -> R (in a lung small cell carcinoma sample; somatic mutation). VAR_040146
13297 - 13297 V -> A. VAR_040147
13399 - 13399 I -> M. VAR_040148
13418 - 13418 A -> T. VAR_040149
13428 - 13428 E -> V. VAR_040150
13430 - 13430 I -> T. VAR_040151
13434 - 13434 R -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation). VAR_040152
13469 - 13469 D -> N. VAR_040153
13495 - 13495 K -> N. VAR_040154
13785 - 13785 N -> S (in a breast pleomorphic lobular carcinoma sample; somatic mutation). VAR_040155
13870 - 13870 Q -> H (in a lung small cell carcinoma sample; somatic mutation). VAR_040156
14109 - 14109 V -> I. VAR_040157
14131 - 14131 R -> Q. VAR_040158
14208 - 14208 P -> T. VAR_040159
14728 - 14728 L -> V (in a lung adenocarcinoma sample; somatic mutation). VAR_040160
14999 - 14999 S -> T. VAR_040161
15021 - 15021 N -> T. VAR_040162
15520 - 15520 A -> V. VAR_040163
15555 - 15555 R -> I (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040164
15620 - 15620 R -> Q. VAR_040165
15629 - 15629 S -> I. VAR_040166
15635 - 15635 Y -> C (in a gastric adenocarcinoma sample; somatic mutation). VAR_040167
15700 - 15700 R -> Q. VAR_040168
15705 - 15705 L -> P. VAR_040169
15837 - 15837 I -> M. VAR_040170
16046 - 16046 G -> V. VAR_069432
16058 - 16058 R -> H. VAR_040171
16067 - 16067 K -> I. VAR_040172
16090 - 16090 I -> T. VAR_040173
16195 - 16195 R -> H (in a gastric adenocarcinoma sample; somatic mutation). VAR_040174
16409 - 16409 R -> C. VAR_040175
16424 - 16424 R -> P. VAR_040176
16575 - 16575 V -> M (in dbSNP:rs3813243). VAR_056087 3813243
16629 - 16629 I -> M. VAR_040177
16877 - 16877 K -> R. VAR_040178
17060 - 17060 N -> D. VAR_040179
17637 - 17637 I -> V. VAR_040180
17838 - 17838 R -> H. VAR_040181
17866 - 17866 D -> N. VAR_040182
17906 - 17906 G -> E (in a metastatic melanoma sample; somatic mutation). VAR_040183
18094 - 18094 E -> A. VAR_040184
18109 - 18109 G -> S. VAR_040185
18164 - 18164 R -> T (in an ovarian serous carcinoma sample; somatic mutation). VAR_040186
18221 - 18221 P -> L. VAR_040187
18222 - 18222 A -> T. VAR_040188
18726 - 18726 R -> Q. VAR_040189
18835 - 18835 V -> A (in a breast infiltrating ductal carcinoma sample; somatic mutation). VAR_040190
18881 - 18881 R -> K (in a metastatic melanoma sample; somatic mutation). VAR_040191
18939 - 18939 N -> S. VAR_040192
19000 - 19000 R -> Q. VAR_040193
19060 - 19060 L -> Q (in a lung large cell carcinoma sample; somatic mutation). VAR_040194
19091 - 19091 R -> K (in a lung large cell carcinoma sample; somatic mutation). VAR_040195
19224 - 19224 P -> S (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040196
19367 - 19367 T -> I. VAR_040197
19392 - 19392 E -> K (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_040198
19480 - 19480 A -> S (in a gastric adenocarcinoma sample; somatic mutation). VAR_040199
19495 - 19495 D -> G. VAR_040200
19665 - 19665 R -> H. VAR_040201
19762 - 19762 T -> I. VAR_040202
19947 - 19947 G -> R. VAR_040203
19956 - 19956 V -> M. VAR_040204
19992 - 19992 R -> Q. VAR_040205
20057 - 20057 R -> C. VAR_040206
20075 - 20075 S -> L. VAR_040207
20179 - 20179 T -> K. VAR_040208
20198 - 20198 A -> T. VAR_040209
20198 - 20198 A -> V. VAR_040210
20331 - 20331 R -> H. VAR_040211
20359 - 20359 R -> K (in dbSNP:rs9808036). VAR_056088 9808036
20408 - 20408 A -> T (in a metastatic melanoma sample; somatic mutation). VAR_040212
20564 - 20564 R -> K. VAR_040213
20718 - 20718 V -> I. VAR_040214
20726 - 20726 S -> P. VAR_040215
20892 - 20892 T -> N. VAR_040216
20894 - 20894 S -> R. VAR_040217
21125 - 21125 D -> E. VAR_040218
21403 - 21403 P -> S. VAR_040219
21730 - 21730 R -> C. VAR_040220
21747 - 21747 R -> Q. VAR_040221
21851 - 21851 C -> R (in a gastric adenocarcinoma sample; somatic mutation). VAR_040222
21925 - 21925 G -> R. VAR_040223
21995 - 21995 R -> H. VAR_040224
22045 - 22045 A -> V. VAR_040225
22149 - 22149 R -> H. VAR_040226
22160 - 22160 V -> I. VAR_040227
22261 - 22261 I -> T. VAR_040228
22306 - 22306 K -> N. VAR_040229
22357 - 22357 R -> H. VAR_040230
22408 - 22408 L -> P. VAR_040231
22537 - 22537 Q -> H (in a gastric adenocarcinoma sample; somatic mutation). VAR_040232
22584 - 22584 P -> L. VAR_040233
22646 - 22646 L -> P (in a gastric adenocarcinoma sample; somatic mutation). VAR_040234
22670 - 22670 T -> A. VAR_040235
22770 - 22770 A -> D. VAR_040236
22801 - 22801 A -> T (in a metastatic melanoma sample; somatic mutation). VAR_040237
22823 - 22823 R -> W (in a metastatic melanoma sample; somatic mutation). VAR_040238
22968 - 22968 E -> Q. VAR_040239
23074 - 23074 P -> L. VAR_040240
23079 - 23079 L -> F (in a metastatic melanoma sample; somatic mutation). VAR_040241
23282 - 23282 D -> N (in a breast infiltrating ductal carcinoma sample; somatic mutation). VAR_040242
23303 - 23303 H -> Y (in a metastatic melanoma sample; somatic mutation). VAR_040243
23306 - 23306 R -> C. VAR_040244
23515 - 23515 A -> S (in a lung squamous cell carcinoma sample; somatic mutation). VAR_040245
23551 - 23551 E -> Q (in a gastric adenocarcinoma sample; somatic mutation). VAR_040246
23807 - 23807 S -> N. VAR_040247
23872 - 23872 D -> N (in an ovarian serous carcinoma sample; somatic mutation). VAR_040248
23891 - 23891 V -> A. VAR_040249
23933 - 23933 Y -> H. VAR_040250
23939 - 23939 T -> M. VAR_040251
23952 - 23952 F -> L (in a gastric adenocarcinoma sample; somatic mutation). VAR_040252
24098 - 24098 A -> G. VAR_040253
24098 - 24098 A -> T (in dbSNP:rs4894028). VAR_056089 4894028
24119 - 24119 N -> S. VAR_040254
24133 - 24133 V -> I. VAR_040255
24159 - 24159 V -> A (in a head and neck squamous cell carcinoma sample; somatic mutation). VAR_040256
24239 - 24239 T -> A. VAR_040257
24265 - 24265 E -> K. VAR_040258
24584 - 24584 I -> T. VAR_040259
24781 - 24781 I -> T. VAR_040260
24799 - 24799 R -> H. VAR_040261
24954 - 24954 D -> H. VAR_040262
24980 - 24980 T -> M. VAR_040263
25659 - 25659 R -> H. VAR_040264
25679 - 25679 A -> T. VAR_040265
25720 - 25720 P -> A. VAR_040266
25821 - 25821 T -> K. VAR_040267
25859 - 25859 E -> K (in a metastatic melanoma sample; somatic mutation). VAR_040268
25879 - 25879 N -> K. VAR_040269
25923 - 25923 A -> V. VAR_040270
26045 - 26045 V -> I. VAR_040271
26059 - 26059 K -> E (in a lung small cell carcinoma sample; somatic mutation). VAR_040272
26134 - 26134 I -> V. VAR_040273
26477 - 26477 R -> C. VAR_040274
26843 - 26843 D -> Y. VAR_040275
27346 - 27346 K -> R. VAR_040276
27652 - 27652 R -> C. VAR_040277
27728 - 27728 G -> V. VAR_040278
27754 - 27754 F -> L. VAR_040279
27755 - 27755 I -> T. VAR_040280
27929 - 27929 I -> V. VAR_040281
28132 - 28132 I -> L. VAR_040282
28168 - 28168 R -> Q. VAR_040283
28538 - 28538 R -> H. VAR_040284
28572 - 28572 I -> T. VAR_040285
28948 - 28948 A -> T. VAR_040286
28986 - 28986 I -> V. VAR_040287
28993 - 28993 G -> E. VAR_040288
28998 - 28998 L -> V. VAR_040289
29070 - 29070 V -> M. VAR_040290
29090 - 29090 I -> V. VAR_040291
29419 - 29419 R -> C. VAR_040292
29479 - 29479 L -> P. VAR_040293
29880 - 29880 S -> L (in a colorectal adenocarcinoma sample; somatic mutation). VAR_040294
29976 - 29976 D -> E. VAR_040295
30042 - 30042 S -> G. VAR_040296
30107 - 30107 R -> C. VAR_040297
30125 - 30125 S -> F. VAR_040298
30211 - 30211 L -> P. VAR_040299
30412 - 30412 I -> T. VAR_040300
30617 - 30617 T -> S (in a renal chromophobe cancer sample; somatic mutation). VAR_040301
30674 - 30674 T -> I. VAR_040302
30809 - 30809 V -> I (in a gastric adenocarcinoma sample; somatic mutation). VAR_040303
30818 - 30818 F -> I. VAR_040304
30825 - 30825 E -> K. VAR_040305
30856 - 30856 I -> T. VAR_040306
30887 - 30887 G -> D. VAR_040307
30887 - 30887 G -> S. VAR_040308
30897 - 30897 R -> H. VAR_040309
30907 - 30907 R -> H. VAR_040310
30946 - 30946 R -> H. VAR_040311
31081 - 31081 I -> F. VAR_040312
31107 - 31107 R -> C. VAR_040313
31124 - 31124 A -> G. VAR_040314
31156 - 31156 N -> S. VAR_040315
31246 - 31246 P -> T. VAR_040316
31330 - 31330 R -> H. VAR_040317
31690 - 31690 C -> R. VAR_040318
31724 - 31724 R -> Q. VAR_040319
31725 - 31725 V -> I. VAR_040320
31732 - 31732 G -> S. VAR_040321
31886 - 31886 V -> I. VAR_040322
32097 - 32097 R -> C. VAR_040323
32171 - 32171 T -> N (in a lung large cell carcinoma sample; somatic mutation). VAR_040324
32248 - 32248 V -> I. VAR_040325
32281 - 32281 Q -> H. VAR_040326
32323 - 32323 R -> H. VAR_040327
32411 - 32411 R -> W (in a gastric adenocarcinoma sample; somatic mutation). VAR_040328
32558 - 32558 I -> V. VAR_040329
32610 - 32610 M -> V. VAR_040330
32637 - 32637 G -> V. VAR_040331
32742 - 32742 E -> Q. VAR_069433
32922 - 32922 V -> A. VAR_040332
32943 - 32943 L -> R (in a gastric adenocarcinoma sample; somatic mutation). VAR_040333
32953 - 32953 R -> H. VAR_040334
32996 - 32996 R -> Q (in CMD1G). VAR_026693
33213 - 33213 V -> L. VAR_040335
33242 - 33242 R -> C (in a gastric adenocarcinoma sample; somatic mutation). VAR_040336
33387 - 33387 T -> M. VAR_040337
33419 - 33419 E -> D. VAR_040338
33536 - 33536 V -> M. VAR_040339
33568 - 33568 K -> Q. VAR_040340
33616 - 33616 E -> K. VAR_040341
33620 - 33620 P -> L. VAR_040342
33886 - 33886 E -> V. VAR_040343
33899 - 33899 I -> T. VAR_040344
33904 - 33904 L -> P (in a gastric adenocarcinoma sample; somatic mutation). VAR_040345
33955 - 33955 T -> I. VAR_040346
34115 - 34115 V -> A. VAR_040347
34306 - 34306 I -> N (in TMD). VAR_026694
34315 - 34315 L -> P (in TMD). VAR_026695
Database cross-references
UniProt: Q8WZ42Ensembl: ENST00000342175
Ensembl: ENST00000342992
Ensembl: ENST00000359218
Ensembl: ENST00000360870
Ensembl: ENST00000436599
Ensembl: ENST00000460472
Ensembl: ENST00000589042
Ensembl: ENST00000591111
MIM: 188840
MIM: 600334
MIM: 603689
MIM: 604145
MIM: 608807
MIM: 611705
MIM: 613765
neXtProt: NX_Q8WZ42
Antibodypedia: Q8WZ42 (may not find the protein thus also not any antibody)
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