Q13148

※ Protein Information

Tag	Content
UniProt Accession	TADBP_HUMAN; Q13148;
Entrez ID	23435
GenBank Protein ID	NM_007375.3; XM_017000863.1; XM_017000864.1; XM_017000865.1; XM_017000866.1; XM_017000867.1; XM_017000868.1;
GenBank Nucleotide ID	NP_031401.1; XP_016856352.1; XP_016856353.1; XP_016856354.1; XP_016856355.1; XP_016856356.1; XP_016856357.1;
Protein Name	TAR DNA-binding protein 43 (TDP-43)
Gene Name	TARDBP; TDP43
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR. Functional Description DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.
Sequence (Fasta)	MSEYIRVTED ENDEPIEIPS EDDGTVLLST VTAQFPGACG LRYRNPVSQC MRGVRLVEGI 60 LHAPDAGWGN LVYVVNYPKD NKRKMDETDA SSAVKVKRAV QKTSDLIVLG LPWKTTEQDL 120 KEYFSTFGEV LMVQVKKDLK TGHSKGFGFV RFTEYETQVK VMSQRHMIDG RWCDCKLPNS 180 KQSQDEPLRS RKVFVGRCTE DMTEDELREF FSQYGDVMDV FIPKPFRAFA FVTFADDQIA 240 QSLCGEDLII KGISVHISNA EPKHNSNRQL ERSGRFGGNP GGFGNQGGFG NSRGGGAGLG 300 NNQGSNMGGG MNFGAFSINP AMMAAAQAAL QSSWGMMGML ASQQNQSGPS GNNQNQGNMQ 360 REPNQAFGSG NNSYSGSNSG AAIGWGSASN AGSGSGFNGG FGSSMDSKSS GWGM 415 Fasta Sequence >Q13148\|TARDBP; TDP43\|Homo sapiens (Human) MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKEYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSQDEPLRSRKVFVGRCTEDMTEDELREFFSQYGDVMDVFIPKPFRAFAFVTFADDQIAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLGNNQGSNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQNQGNMQREPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Phosphorylation	Brain disease		P		23831027
1	[Reference]: These results indicate that insoluble TDP-43 has prion-like properties that may play a role in the progression of TDP-43 proteinopathy.
2	Serine Phosphorylation	Amyotrophic lateral sclerosis		P	S379	18546284
2	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
3	Serine Phosphorylation	Frontotemporal lobar degeneration		P	S379	18546284
3	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
4	Serine Phosphorylation	Amyotrophic lateral sclerosis		P	S403	18546284
4	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
5	Serine Phosphorylation	Frontotemporal lobar degeneration		P	S403	18546284
5	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
6	Serine Phosphorylation	Frontotemporal lobar degeneration		P	S404	18546284
6	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
7	Serine Phosphorylation	Amyotrophic lateral sclerosis		P	S404	18546284
7	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
8	Serine Phosphorylation	Amyotrophic lateral sclerosis		P	S409	18546284
8	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
9	Serine Phosphorylation	Frontotemporal lobar degeneration		P	S409	18546284
9	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
10	Serine Phosphorylation	Frontotemporal lobar degeneration		P	S410	18546284
10	[Reference]: These results suggest that phosphorylated TDP-43 is a major component of the inclusions, and that abnormal phosphorylation of TDP-43 is a critical step in the pathogenesis of FTLD-U and ALS
11	Serine Phosphorylation	Amyotrophic lateral sclerosis	tumor tissue	U	S410	18546284; 18656473; 19125255; 19235466
11	[Reference]: A monoclonal antibody specific for phosphoserines 409 and 410 of TDP-43 (mAb pS409/410) has been produced. It strongly stained TDP-43-positive inclusions in brain of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, but did not stain nuclei, in which normal TDP-43 is localized.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 3)	MESH:D000690 ; Amyotrophic Lateral Sclerosis MESH:C567429 ; Amyotrophic Lateral Sclerosis 10 MESH:D057174 ; Frontotemporal Lobar Degeneration
DisGeNet (Curated) (count: 36) (view all)	C0002736; Amyotrophic Lateral Sclerosis C0003467; Anxiety C0011168; Deglutition Disorders C0011581; Depressive disorder C0013362; Dysarthria C0013404; Dyspnea C0015672; Fatigue C0026821; Muscle Cramp C0026838; Muscle Spasticity C0027746; Nerve Degeneration C0030193; Pain C0034935; Babinski Reflex C0038271; Stereotyped Behavior C0038273; Stereotypic Movement Disorder C0043352; Xerostomia C0085632; Apathy C0085633; Mood swings C0234958; muscle degeneration C0270948; Neurogenic Muscular Atrophy C0424296; Social disinhibition C0522224; Paralysed C0524851; Neurodegenerative Disorders C0541794; Skeletal muscle atrophy C0746674; Generalized muscle weakness C0751072; Frontotemporal Lobar Degeneration C1145670; Respiratory Failure C1838681; Rapidly progressive C1843479; Neurogenic muscle atrophy, especially in the lower limbs C1850776; Rapidly progressive disorder C2677565; AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) C3502417; Amyotrophic Lateral Sclerosis 10 C3806467; Respiratory insufficiency due to muscle weakness C4020854; Neuro-degenerative disease C4020884; Anxiety disease C4022587; Fatigable weakness of respiratory muscles C4022588; Fatigable weakness of swallowing muscles
HGMD (count: 31) (view all)	CI091314; Amyotrophic lateral sclerosis; Small insertions CM083175; Disrupted nuclear localisation, association with; Missense/nonsense CM081838; Amyotrophic lateral sclerosis; Missense/nonsense CM091848; Amyotrophic lateral sclerosis; Missense/nonsense CM081839; Amyotrophic lateral sclerosis; Missense/nonsense CM083176; Amyotrophic lateral sclerosis; Missense/nonsense CM081449; Amyotrophic lateral sclerosis; Missense/nonsense CM091849; Amyotrophic lateral sclerosis; Missense/nonsense CM091850; Amyotrophic lateral sclerosis; Missense/nonsense CM091851; Amyotrophic lateral sclerosis; Missense/nonsense CM083177; Amyotrophic lateral sclerosis; Missense/nonsense CM091309; Amyotrophic lateral sclerosis; Missense/nonsense CM081840; Motor neuron disease; Missense/nonsense CM081447; Amyotrophic lateral sclerosis; Missense/nonsense CM091852; Amyotrophic lateral sclerosis; Missense/nonsense CM091853; Amyotrophic lateral sclerosis; Missense/nonsense CM081448; Amyotrophic lateral sclerosis; Missense/nonsense CM085732; Amyotrophic lateral sclerosis; Missense/nonsense CM085730; Amyotrophic lateral sclerosis; Missense/nonsense CM081835; Amyotrophic lateral sclerosis; Missense/nonsense CM083787; Amyotrophic lateral sclerosis; Missense/nonsense CM081836; Amyotrophic lateral sclerosis; Missense/nonsense CM091312; Amyotrophic lateral sclerosis; Missense/nonsense CM091855; Amyotrophic lateral sclerosis; Missense/nonsense CM091854; Amyotrophic lateral sclerosis; Missense/nonsense CM081834; Amyotrophic lateral sclerosis; Missense/nonsense CM091313; Amyotrophic lateral sclerosis; Missense/nonsense CM085731; Amyotrophic lateral sclerosis; Missense/nonsense CM081833; Amyotrophic lateral sclerosis; Missense/nonsense CM081837; Amyotrophic lateral sclerosis; Missense/nonsense CM091856; Amyotrophic lateral sclerosis; Missense/nonsense

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 36) (view all)	116 LGLPWKTTEQDLKEY dbPAF 153 GFGFVRFTEYETQVK dbPAF 155 GFVRFTEYETQVKVM dbPAF 157 VRFTEYETQVKVMSQ dbPAF 183 KLPNSKQSQDEPLRS dbPAF 2 ****MSEYIRVTE dbPAF 20 DEPIEIPSEDDGTVL dbPAF 242 ADDQIAQSLCGEDLI dbPAF 25 IPSEDDGTVLLSTVT dbPAF 254 DLIIKGISVHISNAE dbPAF 273 SNRQLERSGRFGGNP dbPAF 29 DDGTVLLSTVTAQFP dbPAF 292 NQGGFGNSRGGGAGL dbPAF 30 DGTVLLSTVTAQFPG dbPAF 305 GLGNNQGSNMGGGMN dbPAF 342 GMMGMLASQQNQSGP dbPAF 347 LASQQNQSGPSGNNQ dbPAF 350 QQNQSGPSGNNQNQG dbPAF 369 EPNQAFGSGNNSYSG dbPAF 375 GSGNNSYSGSNSGAA dbPAF 377 GNNSYSGSNSGAAIG dbPAF 379 NSYSGSNSGAAIGWG dbPAF 387 GAAIGWGSASNAGSG dbPAF 389 AIGWGSASNAGSGSG dbPAF 393 GSASNAGSGSGFNGG dbPAF 395 ASNAGSGSGFNGGFG dbPAF 4 MSEYIRVTEDE dbPAF 403 GFNGGFGSSMDSKSS dbPAF 404 FNGGFGSSMDSKSSG dbPAF 407 GFGSSMDSKSSGWGM dbPAF 409 GSSMDSKSSGWGM dbPAF 410 SSMDSKSSGWGM*** dbPAF 48 LRYRNPVSQCMRGVR dbPAF 88 NKRKMDETDASSAVK dbPAF 91 KMDETDASSAVKVKR dbPAF 92 MDETDASSAVKVKRA dbPAF
Acetylation (count: 4)	102 KVKRAVQKTSDLIVL PLMD 160 TEYETQVKVMSQRHM PLMD 176 DGRWCDCKLPNSKQS PLMD 95 TDASSAVKVKRAVQK PLMD
Ubiquitination (count: 15) (view all)	102 KVKRAVQKTSDLIVL PLMD 114 IVLGLPWKTTEQDLK PLMD 121 KTTEQDLKEYFSTFG PLMD 140 VQVKKDLKTGHSKGF PLMD 145 DLKTGHSKGFGFVRF PLMD 160 TEYETQVKVMSQRHM PLMD 176 DGRWCDCKLPNSKQS PLMD 181 DCKLPNSKQSQDEPL PLMD 192 DEPLRSRKVFVGRCT PLMD 263 HISNAEPKHNSNRQL PLMD 79 VYVVNYPKDNKRKMD PLMD 82 VNYPKDNKRKMDETD PLMD 84 YPKDNKRKMDETDAS PLMD 95 TDASSAVKVKRAVQK PLMD 97 ASSAVKVKRAVQKTS PLMD
Sumoylation (count: 13) (view all)	102 KVKRAVQKTSDLIVL PLMD 114 IVLGLPWKTTEQDLK PLMD 121 KTTEQDLKEYFSTFG PLMD 140 VQVKKDLKTGHSKGF PLMD 145 DLKTGHSKGFGFVRF PLMD 160 TEYETQVKVMSQRHM PLMD 176 DGRWCDCKLPNSKQS PLMD 181 DCKLPNSKQSQDEPL PLMD 263 HISNAEPKHNSNRQL PLMD 79 VYVVNYPKDNKRKMD PLMD 84 YPKDNKRKMDETDAS PLMD 95 TDASSAVKVKRAVQK PLMD 97 ASSAVKVKRAVQKTS PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

P62988

Q13148

DIP

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction