P15923

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession TFE2_HUMAN; P15923;
Entrez ID 6929
GenBank Protein ID NM_001136139.2; NM_003200.3; XM_017027180.1; XM_017027181.1; XM_017027182.1;
GenBank Nucleotide ID NP_001129611.1; NP_003191.1; XP_016882669.1; XP_016882670.1; XP_016882671.1;
Protein Name Transcription factor E2-alpha (Class B basic helix-loop-helix protein 21) (bHLHb21) (Immunoglobulin enhancer-binding factor E12/E47) (Immunoglobulin transcription factor 1) (Kappa-E2-binding factor) (Transcription factor 3) (TCF-3) (Transcription factor I
Gene Name TCF3; BHLHB21; E2A; ITF1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionTranscriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E-box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region.
Sequence
(Fasta)		MNQPQRMAPV GTDKELSDLL DFSMMFPLPV TNGKGRPASL AGAQFGGSGL EDRPSSGSWG 60
SGDQSSSSFD PSRTFSEGTH FTESHSSLSS STFLGPGLGG KSGERGAYAS FGRDAGVGGL 120
TQAGFLSGEL ALNSPGPLSP SGMKGTSQYY PSYSGSSRRR AADGSLDTQP KKVRKVPPGL 180
PSSVYPPSSG EDYGRDATAY PSAKTPSSTY PAPFYVADGS LHPSAELWSP PGQAGFGPML 240
GGGSSPLPLP PGSGPVGSSG SSSTFGGLHQ HERMGYQLHG AEVNGGLPSA SSFSSAPGAT 300
YGGVSSHTPP VSGADSLLGS RGTTAGSSGD ALGKALASIY SPDHSSNNFS SSPSTPVGSP 360
QGLAGTSQWP RAGAPGALSP SYDGGLHGLQ SKIEDHLDEA IHVLRSHAVG TAGDMHTLLP 420
GHGALASGFT GPMSLGGRHA GLVGGSHPED GLAGSTSLMH NHAALPSQPG TLPDLSRPPD 480
SYSGLGRAGA TAAASEIKRE EKEDEENTSA ADHSEEEKKE LKAPRARTSP DEDEDDLLPP 540
EQKAEREKER RVANNARERL RVRDINEAFK ELGRMCQLHL NSEKPQTKLL ILHQAVSVIL 600
NLEQQVRERN LNPKAACLKR REEEKVSGVV GDPQMVLSAP HPGLSEAHNP AGHM 655

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationColon cancer/carcinomaUS3926212009
[Reference]: Collectively, E47 is a novel substrate of PAK5, and PAK5-mediated phosphorylation of E47 promotes EMT and metastasis of colon cancer, suggesting that phosphorylated E47 on Ser39 may be a potential therapeutic target in progressive colon cancer.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
pre B-ALL
CTD (Curated)
(count: 4)		MESH:D000361 ; Agammaglobulinemia
MESH:D002051 ; Burkitt Lymphoma
MESH:D015452 ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
MESH:D054198 ; Precursor Cell Lymphoblastic Leukemia-Lymphoma
GWASdb
(count: 1)		rs1860661; Hodgkin's lymphoma; Hodgkin's lymphoma

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 40)
(view all)		 108       KSGERGAYASFGRDA     dbPAF
12        QRMAPVGTDKELSDL     dbPAF
134       SGELALNSPGPLSPS     dbPAF
139       LNSPGPLSPSGMKGT     dbPAF
141       SPGPLSPSGMKGTSQ     dbPAF
149       GMKGTSQYYPSYSGS     dbPAF
Acetylation
(count: 2)		 334       SSGDALGKALASIYS     PLMD
34        PLPVTNGKGRPASLA     PLMD
Ubiquitination
(count: 2)		 570       RDINEAFKELGRMCQ     PLMD
584       QLHLNSEKPQTKLLI     PLMD
Sumoylation
(count: 2)		 392       GLHGLQSKIEDHLDE     PLMD
498       TAAASEIKREEKEDE     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource