P07949

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession RET_HUMAN; P07949;
Entrez ID 5979
GenBank Protein ID NM_020630.4; NM_020975.4;
GenBank Nucleotide ID NP_065681.1; NP_066124.1;
Protein Name Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]
Gene Name RET; CDHF12; CDHR16; PTC; RET51
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionReceptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of(view all)
Sequence
(Fasta)
MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP 60
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT 120
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR 180
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV 240
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD 300
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR 360
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA 420
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE 480
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR 540
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR 600
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELCRTVIAA AVLFSFIVSV LLSAFCIHCY 660
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP 720
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK 780
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH 840
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY 900
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL 960
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA 1020
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGMSDPNWP GESPVPLTRA 1080
DGTNTGFPRY PNDSVYANWM LSPSAAKLMD TFDS 1115

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Tyrosine PhosphorylationPheochromocytomaNY79120080836
[Reference]: High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
2Tyrosine PhosphorylationThyroid cancer/carcinomaNY79115753368
[Reference]: RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
3Serine PhosphorylationThyroid cancer/carcinomaNS89115753368
[Reference]: RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC, Spitzoid tumour medullary thyroid, papillary thyroid, pheochromocytoma multiple endocrine neoplasia 2A/2B
CTD (Curated)
(count: 15)
(view all)
MESH:D028226 ; Amyloidosis, Familial
MESH:D002051 ; Burkitt Lymphoma
MESH:D018276 ; Carcinoma, Medullary
MESH:D015179 ; Colorectal Neoplasms
MESH:C536209 ; Congenital central hypoventilation syndrome
MESH:C536911 ; Familial medullary thyroid carcinoma
GWASdb
(count: 18)
(view all)
rs2506011; Hirschsprung's disease; Hirschsprung's disease
rs2435356; Multiple complex diseases; Null
rs2435356; Hirschsprung's disease; Hirschsprung's disease
rs2506021; Hirschsprung's disease; Hirschsprung's disease
rs2435342; Hirschsprung's disease; Hirschsprung's disease
rs12247456; Hypertension; hypertension

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 30)
(view all)
1015      MMVKRRDYLDLAAST     dbPAF
1029      TPSDSLIYDDGLSEE     dbPAF
1062      TWIENKLYGMSDPNW     dbPAF
1065      ENKLYGMSDPNWPGE     dbPAF
1090      TNTGFPRYPNDSVYA     dbPAF
1096      RYPNDSVYANWMLSP     dbPAF
Ubiquitination
(count: 2)
108       LDHSSWEKLSVRNRG     PLMD
907       YEEDSYVKRSQGRIP     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource