Q008S8 (ECT2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Epithelial cell-transforming sequence 2 oncogene-like

Alternative name(s):
Lung-specific F-box and DH domain-containing protein
Putative guanine nucleotide exchange factor LFDH

Gene names

Name:	ECT2L
Synonyms:	C6orf91, LFDH

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	904 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May act as a guanine nucleotide exchange factor (GEF) By similarity.
Sequence similarities	Contains 1 DH (DBL-homology) domain. Contains 1 F-box domain.
Sequence caution	The sequence ABI98401.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Molecular function	Guanine-nucleotide releasing factor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	intracellular Inferred from electronic annotation. Source: InterPro
Molecular_function	Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 904	904	Epithelial cell-transforming sequence 2 oncogene-like		PRO_0000336075
Regions
	Domain	75 – 121	47	F-box
	Domain	566 – 754	189	DH
Natural variations
	Natural variant	483	1	Q → H. Corresponds to variant rs12198781 [ dbSNP | Ensembl ].		VAR_051984
	Natural variant	527	1	E → K. Corresponds to variant rs1529151 [ dbSNP | Ensembl ].		VAR_043482
	Natural variant	594	1	A → T. Corresponds to variant rs11968285 [ dbSNP | Ensembl ].		VAR_043483
Experimental info
	Sequence conflict	60	1	R → S in ABI98401. Ref.3
	Sequence conflict	64	1	D → E in ABI98401. Ref.3
	Sequence conflict	472	1	R → K in ABI98401. Ref.3
	Sequence conflict	641	1	G → D in ABI98401. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q008S8 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: CF4AD8C84D94E983	FASTA	904	104,880
	10 20 30 40 50 60 MESFHTRFSA WTPFSNKSLN RQLFQERVAL ISHWFDLWTN KQRQEFLFAI FLRCTKSQLR 70 80 90 100 110 120 FVQDWFSERM QVAKVDFSTV LPRFISLYIF SFLSPKDLCA AAQVSWPWKF LTEQDCLWMP 130 140 150 160 170 180 KCVKFGWFLP YTPTDNEYGA WKRHYIACVS HLDWLTPREA AATYGTLNEP KTEDEELLER 190 200 210 220 230 240 QREKCLRKRI WEKIALRKKE LFKVRPPWVS GTCCSSVLKP RCQPRLSQTV RERVGLHEAL 250 260 270 280 290 300 EKQLVLTSLE TLPKRSNISG SHSYPLLSKK NWHGVHKNDD RSSYALRPHF MLISSRIPAY 310 320 330 340 350 360 EMVMESVKAG VVSVVYEHSV TLESLLYLIE KALDGQKAQS IGIFSDGDSR EINLLQGYKI 370 380 390 400 410 420 GVKNLLRPEV RDFWEKLGSY VATEEEGGHV DFFVPLGASE AGIEVLSQLS QLTGTFFTAP 430 440 450 460 470 480 TGIATGSYQH ILSDWLGSQW GKAPSSIYFC ESKLQTWSSF TDFLEETLKT VRKQLYPFFK 490 500 510 520 530 540 ELQKSISGRM IGQFMFDTMG MTNILNNQDT AQALADGLME LSKEDSERNV VEDNSWDTKS 550 560 570 580 590 600 RLSKNDLNFE ALINLERILQ KDSAEKRARV VRELLQSERK YVQILEIVRD VYVAPLKAAL 610 620 630 640 650 660 SSNRAILSAA NIQIIFCDIL QILSLNRQFL DNLRDRLQEW GPAHCVGEIV TKFGSQLNTY 670 680 690 700 710 720 TNFFNNYPVI LKTIEKCREM IPAFRTFLKR HDKTIVTKML SLPELLLYPS RRFEEYLNLL 730 740 750 760 770 780 YAVRLHTPAE HVDRGDLTTA IDQIKKYKGY IDQMKQNITM KDHLSDIQRI IWGCPTLSEV 790 800 810 820 830 840 NRYLIRVQDV AQLHCCDEEI SFSLRLYEHI HDLSLFLFND ALLVSSRGTS HTPFERTSKT 850 860 870 880 890 900 TYQFIASVAL HRLLIENIPD SKYVKNAFIL QGPKYKWICA TEIEDDKFLW LSVLRNAIKS SMEK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"Identification and characterization of the gene for human lung specific F-box and DH domain containing protein (LFDH)." Corcoran M.M., Cepeda D., Akhondi S., Spruck C., Sangfelt O. Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-904.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL121834 Genomic DNA. Translation: CAI42871.2. BC146884 mRNA. Translation: AAI46885.1. DQ904331 mRNA. Translation: ABI98401.1. Different initiation.
IPI	IPI00247492.
RefSeq	NP_001071174.1. NM_001077706.2. NP_001181966.1. NM_001195037.2.
UniGene	Hs.660603.
3D structure databases
ProteinModelPortal	Q008S8.
ModBase	Search...
PTM databases
PhosphoSite	Q008S8.
Polymorphism databases
DMDM	189046616.
Proteomic databases
PaxDb	Q008S8.
PRIDE	Q008S8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367682; ENSP00000356655; ENSG00000203734. ENST00000423192; ENSP00000387388; ENSG00000203734.
GeneID	345930.
KEGG	hsa:345930.
UCSC	uc003qif.2. human.
Organism-specific databases
CTD	345930.
GeneCards	GC06P139117.
HGNC	HGNC:21118. ECT2L.
HPA	HPA035488.
neXtProt	NX_Q008S8.
PharmGKB	PA134893289.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271899.
HOGENOM	HOG000067954.
InParanoid	Q008S8.
OMA	TSHTPFE.
OrthoDB	EOG483D3V.
Gene expression databases
ArrayExpress	Q008S8.
Bgee	Q008S8.
Genevestigator	Q008S8.
Family and domain databases
Gene3D	1.20.900.10. 1 hit. 2.30.29.30. 1 hit.
InterPro	IPR000219. DH-domain. IPR001810. F-box_dom_cyclin-like. IPR011993. PH_like_dom. [Graphical view]
Pfam	PF00621. RhoGEF. 1 hit. [Graphical view]
SMART	SM00256. FBOX. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view]
SUPFAM	SSF48065. DH-domain. 1 hit. SSF81383. F-box_dom_Skp2-like. 1 hit.
PROSITE	PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50181. FBOX. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	345930.
NextBio	98913.

Entry information

Entry name

ECT2L_HUMAN

Accession

Primary (citable) accession number: Q008S8
Secondary accession number(s): B2RUV6 , Q5JWK2, Q5JWK3, Q5JWK4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 20, 2008
Last modified:	May 1, 2013
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.