ECT2L_HUMAN
ID ECT2L_HUMAN Reviewed; 904 AA.
AC Q008S8; B2RUV6; Q5JWK2; Q5JWK3; Q5JWK4;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Epithelial cell-transforming sequence 2 oncogene-like;
DE AltName: Full=Lung-specific F-box and DH domain-containing protein;
DE AltName: Full=Putative guanine nucleotide exchange factor LFDH;
GN Name=ECT2L; Synonyms=C6orf91, LFDH;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 8-904.
RA Corcoran M.M., Cepeda D., Akhondi S., Spruck C., Sangfelt O.;
RT "Identification and characterization of the gene for human lung specific F-
RT box and DH domain containing protein (LFDH).";
RL Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May act as a guanine nucleotide exchange factor (GEF).
CC {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=ABI98401.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL121834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC146884; AAI46885.1; -; mRNA.
DR EMBL; DQ904331; ABI98401.1; ALT_INIT; mRNA.
DR CCDS; CCDS43508.1; -.
DR RefSeq; NP_001071174.1; NM_001077706.2.
DR RefSeq; NP_001181966.1; NM_001195037.2.
DR AlphaFoldDB; Q008S8; -.
DR SMR; Q008S8; -.
DR BioGRID; 131369; 59.
DR IntAct; Q008S8; 15.
DR STRING; 9606.ENSP00000442307; -.
DR iPTMnet; Q008S8; -.
DR PhosphoSitePlus; Q008S8; -.
DR BioMuta; ECT2L; -.
DR DMDM; 189046616; -.
DR EPD; Q008S8; -.
DR MassIVE; Q008S8; -.
DR PaxDb; Q008S8; -.
DR PeptideAtlas; Q008S8; -.
DR PRIDE; Q008S8; -.
DR ProteomicsDB; 57884; -.
DR Antibodypedia; 52603; 66 antibodies from 15 providers.
DR DNASU; 345930; -.
DR Ensembl; ENST00000367682.6; ENSP00000356655.2; ENSG00000203734.13.
DR Ensembl; ENST00000541398.7; ENSP00000442307.2; ENSG00000203734.13.
DR GeneID; 345930; -.
DR KEGG; hsa:345930; -.
DR MANE-Select; ENST00000541398.7; ENSP00000442307.2; NM_001077706.3; NP_001071174.1.
DR UCSC; uc003qif.2; human.
DR CTD; 345930; -.
DR DisGeNET; 345930; -.
DR GeneCards; ECT2L; -.
DR HGNC; HGNC:21118; ECT2L.
DR HPA; ENSG00000203734; Tissue enriched (fallopian).
DR neXtProt; NX_Q008S8; -.
DR OpenTargets; ENSG00000203734; -.
DR PharmGKB; PA134893289; -.
DR VEuPathDB; HostDB:ENSG00000203734; -.
DR eggNOG; KOG0274; Eukaryota.
DR eggNOG; KOG3524; Eukaryota.
DR GeneTree; ENSGT00940000158839; -.
DR HOGENOM; CLU_013595_0_0_1; -.
DR InParanoid; Q008S8; -.
DR OMA; GIDIFCP; -.
DR OrthoDB; 1047475at2759; -.
DR PhylomeDB; Q008S8; -.
DR TreeFam; TF343796; -.
DR PathwayCommons; Q008S8; -.
DR SignaLink; Q008S8; -.
DR BioGRID-ORCS; 345930; 51 hits in 1067 CRISPR screens.
DR ChiTaRS; ECT2L; human.
DR GeneWiki; ECT2L; -.
DR GenomeRNAi; 345930; -.
DR Pharos; Q008S8; Tdark.
DR PRO; PR:Q008S8; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q008S8; protein.
DR Bgee; ENSG00000203734; Expressed in right uterine tube and 92 other tissues.
DR ExpressionAtlas; Q008S8; baseline and differential.
DR GO; GO:0110165; C:cellular anatomical entity; IEA:UniProt.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR CDD; cd00160; RhoGEF; 1.
DR Gene3D; 1.20.900.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR025592; DUF4347.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR001810; F-box_dom.
DR InterPro; IPR011993; PH-like_dom_sf.
DR Pfam; PF14252; DUF4347; 1.
DR Pfam; PF12937; F-box-like; 1.
DR Pfam; PF00621; RhoGEF; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS50010; DH_2; 1.
PE 2: Evidence at transcript level;
KW Guanine-nucleotide releasing factor; Reference proteome.
FT CHAIN 1..904
FT /note="Epithelial cell-transforming sequence 2 oncogene-
FT like"
FT /id="PRO_0000336075"
FT DOMAIN 75..121
FT /note="F-box"
FT DOMAIN 566..754
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT VARIANT 483
FT /note="Q -> H (in dbSNP:rs12198781)"
FT /id="VAR_051984"
FT VARIANT 527
FT /note="E -> K (in dbSNP:rs1529151)"
FT /id="VAR_043482"
FT VARIANT 594
FT /note="A -> T (in dbSNP:rs11968285)"
FT /id="VAR_043483"
FT CONFLICT 60
FT /note="R -> S (in Ref. 3; ABI98401)"
FT /evidence="ECO:0000305"
FT CONFLICT 64
FT /note="D -> E (in Ref. 3; ABI98401)"
FT /evidence="ECO:0000305"
FT CONFLICT 472
FT /note="R -> K (in Ref. 3; ABI98401)"
FT /evidence="ECO:0000305"
FT CONFLICT 641
FT /note="G -> D (in Ref. 3; ABI98401)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 904 AA; 104880 MW; CF4AD8C84D94E983 CRC64;
MESFHTRFSA WTPFSNKSLN RQLFQERVAL ISHWFDLWTN KQRQEFLFAI FLRCTKSQLR
FVQDWFSERM QVAKVDFSTV LPRFISLYIF SFLSPKDLCA AAQVSWPWKF LTEQDCLWMP
KCVKFGWFLP YTPTDNEYGA WKRHYIACVS HLDWLTPREA AATYGTLNEP KTEDEELLER
QREKCLRKRI WEKIALRKKE LFKVRPPWVS GTCCSSVLKP RCQPRLSQTV RERVGLHEAL
EKQLVLTSLE TLPKRSNISG SHSYPLLSKK NWHGVHKNDD RSSYALRPHF MLISSRIPAY
EMVMESVKAG VVSVVYEHSV TLESLLYLIE KALDGQKAQS IGIFSDGDSR EINLLQGYKI
GVKNLLRPEV RDFWEKLGSY VATEEEGGHV DFFVPLGASE AGIEVLSQLS QLTGTFFTAP
TGIATGSYQH ILSDWLGSQW GKAPSSIYFC ESKLQTWSSF TDFLEETLKT VRKQLYPFFK
ELQKSISGRM IGQFMFDTMG MTNILNNQDT AQALADGLME LSKEDSERNV VEDNSWDTKS
RLSKNDLNFE ALINLERILQ KDSAEKRARV VRELLQSERK YVQILEIVRD VYVAPLKAAL
SSNRAILSAA NIQIIFCDIL QILSLNRQFL DNLRDRLQEW GPAHCVGEIV TKFGSQLNTY
TNFFNNYPVI LKTIEKCREM IPAFRTFLKR HDKTIVTKML SLPELLLYPS RRFEEYLNLL
YAVRLHTPAE HVDRGDLTTA IDQIKKYKGY IDQMKQNITM KDHLSDIQRI IWGCPTLSEV
NRYLIRVQDV AQLHCCDEEI SFSLRLYEHI HDLSLFLFND ALLVSSRGTS HTPFERTSKT
TYQFIASVAL HRLLIENIPD SKYVKNAFIL QGPKYKWICA TEIEDDKFLW LSVLRNAIKS
SMEK
