Gene name: TARDBP

Uniprot entry:

Q13148

Protein names:

TAR DNA-binding protein 43 (TDP-43)

Protein sequence:

1_MSEYI 6_ RVTED 11_ ENDEP 16_ IEIPS 21_ EDDGT 26_ VLLST 31_ VTAQF 36_ PGACG 41_ LRYRN 46_ PVSQC 51_ MRGVR 56_ LVEGI 61_ LHAPD 66_ AGWGN 71_ LVYVV 76_ NYPKD 81_ NKRKM 86_ DETDA 91_ SSAVK 96_ VKRAV 101_ QKTSD 106_ LIVLG 111_ LPWKT 116_ TEQDL 121_ KEYFS 126_ TFGEV 131_ LMVQV 136_ KKDLK 141_ TGHSK 146_ GFGFV 151_ RFTEY 156_ ETQVK 161_ VMSQR 166_ HMIDG 171_ RWCDC 176_ KLPNS 181_ KQSQD 186_ EPLRS 191_ RKVFV 196_ GRCTE 201_ DMTED 206_ ELREF 211_ FSQYG 216_ DVMDV 221_ FIPKP 226_ FRAFA 231_ FVTFA 236_ DDQIA 241_ QSLCG 246_ EDLII 251_ KGISV 256_ HISNA 261_ EPKHN 266_ SNRQL 271_ ERSGR 276_ FGGNP 281_ GGFGN 286_ QGGFG 291_ NSRGG 296_ GAGLG 301_ NNQGS 306_ NMGGG 311_ MNFGA 316_ FSINP 321_ AMMAA 326_ AQAAL 331_ QSSWG 336_ MMGML 341_ ASQQN 346_ QSGPS 351_ GNNQN 356_ QGNMQ 361_ REPNQ 366_ AFGSG 371_ NNSYS 376_ GSNSG 381_ AAIGW 386_ GSASN 391_ AGSGS 396_ GFNGG 401_ FGSSM 406_DSKSS

Protein annotations

Protein functions:

1: RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Also regulates mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:19765185, PubMed:23398327). Also participates in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980). Negatively regulates the expression of CDK6 (PubMed:19760257). Regulates the expression of HDAC6, ATG7 and VCP in a PPIA/CYPA-dependent manner (PubMed:25678563)