Q9HBW9 (ELTD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
EGF, latrophilin and seven transmembrane domain-containing protein 1

Alternative name(s):
EGF-TM7-latrophilin-related protein
Short name=ETL protein

Gene names

Name:	ELTD1
Synonyms:	ETL
ORF Names:	UNQ202/PRO228

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	690 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Could be involved in cardiac development.
Subunit structure	Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven-transmembrane moiety (beta subunit). Forms stable dimer at the cells surface By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein.
Tissue specificity	Mainly expressed in smooth muscle.
Developmental stage	Up-regulated in the adult heart.
Domain	The transmembrane domain is not required for cleavage, but it is required for dimer formation By similarity.
Post-translational modification	Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit By similarity.
Sequence similarities	Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 2 EGF-like domains. Contains 1 GPS domain.
Sequence caution	The sequence AAG33021.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH25721.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	EGF-like domain Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuropeptide signaling pathway Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Traceable author statement PubMed 15203201. Source: GDB plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	G-protein coupled receptor activity Traceable author statement PubMed 15203201. Source: GDB calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 690	671	EGF, latrophilin and seven transmembrane domain-containing protein 1		PRO_0000012870
Regions
	Topological domain	20 – 432	413	Extracellular Potential
	Transmembrane	433 – 453	21	Helical; Name=1; Potential
	Topological domain	454 – 460	7	Cytoplasmic Potential
	Transmembrane	461 – 481	21	Helical; Name=2; Potential
	Topological domain	482 – 499	18	Extracellular Potential
	Transmembrane	500 – 520	21	Helical; Name=3; Potential
	Topological domain	521 – 532	12	Cytoplasmic Potential
	Transmembrane	533 – 553	21	Helical; Name=4; Potential
	Topological domain	554 – 573	20	Extracellular Potential
	Transmembrane	574 – 594	21	Helical; Name=5; Potential
	Topological domain	595 – 618	24	Cytoplasmic Potential
	Transmembrane	619 – 639	21	Helical; Name=6; Potential
	Topological domain	640 – 646	7	Extracellular Potential
	Transmembrane	647 – 667	21	Helical; Name=7; Potential
	Topological domain	668 – 690	23	Cytoplasmic Potential
	Domain	20 – 57	38	EGF-like 1
	Domain	58 – 108	51	EGF-like 2; calcium-binding Potential
	Domain	367 – 418	52	GPS
	Compositional bias	326 – 329	4	Poly-Glu
Sites
	Site	406 – 407	2	Cleavage By similarity
Amino acid modifications
	Glycosylation	15	1	N-linked (GlcNAc...) Potential
	Glycosylation	21	1	N-linked (GlcNAc...) Potential
	Glycosylation	64	1	N-linked (GlcNAc...) Potential
	Glycosylation	74	1	N-linked (GlcNAc...) Potential
	Glycosylation	127	1	N-linked (GlcNAc...) Potential
	Glycosylation	177	1	N-linked (GlcNAc...) Potential
	Glycosylation	188	1	N-linked (GlcNAc...) Potential
	Glycosylation	249	1	N-linked (GlcNAc...) Ref.7
	Glycosylation	381	1	N-linked (GlcNAc...) Potential
	Glycosylation	395	1	N-linked (GlcNAc...) Potential
	Disulfide bond	22 ↔ 33		By similarity
	Disulfide bond	27 ↔ 42		By similarity
	Disulfide bond	44 ↔ 56		By similarity
	Disulfide bond	62 ↔ 75		By similarity
	Disulfide bond	69 ↔ 84		By similarity
	Disulfide bond	86 ↔ 107		By similarity
Natural variations
	Natural variant	300	1	V → L. Ref.2 Ref.5 Ref.6 Corresponds to variant rs12754818 [ dbSNP | Ensembl ].		VAR_047072
	Natural variant	599	1	H → Q. Corresponds to variant rs1968956 [ dbSNP | Ensembl ].		VAR_047073
	Natural variant	620	1	A → G. Ref.1 Corresponds to variant rs2275902 [ dbSNP | Ensembl ].		VAR_047074

Sequences

	Sequence		Length	Mass (Da)
	Q9HBW9 [UniParc]. Last modified November 4, 2008. Version 3. Checksum: 38BFEEBCEADDEFC8	FASTA	690	77,811
	10 20 30 40 50 60 MKRLPLLVVF STLLNCSYTQ NCTKTPCLPN AKCEIRNGIE ACYCNMGFSG NGVTICEDDN 70 80 90 100 110 120 ECGNLTQSCG ENANCTNTEG SYYCMCVPGF RSSSNQDRFI TNDGTVCIEN VNANCHLDNV 130 140 150 160 170 180 CIAANINKTL TKIRSIKEPV ALLQEVYRNS VTDLSPTDII TYIEILAESS SLLGYKNNTI 190 200 210 220 230 240 SAKDTLSNST LTEFVKTVNN FVQRDTFVVW DKLSVNHRRT HLTKLMHTVE QATLRISQSF 250 260 270 280 290 300 QKTTEFDTNS TDIALKVFFF DSYNMKHIHP HMNMDGDYIN IFPKRKAAYD SNGNVAVAFV 310 320 330 340 350 360 YYKSIGPLLS SSDNFLLKPQ NYDNSEEEER VISSVISVSM SSNPPTLYEL EKITFTLSHR 370 380 390 400 410 420 KVTDRYRSLC AFWNYSPDTM NGSWSSEGCE LTYSNETHTS CRCNHLTHFA ILMSSGPSIG 430 440 450 460 470 480 IKDYNILTRI TQLGIIISLI CLAICIFTFW FFSEIQSTRT TIHKNLCCSL FLAELVFLVG 490 500 510 520 530 540 INTNTNKLFC SIIAGLLHYF FLAAFAWMCI EGIHLYLIVV GVIYNKGFLH KNFYIFGYLS 550 560 570 580 590 600 PAVVVGFSAA LGYRYYGTTK VCWLSTENNF IWSFIGPACL IILVNLLAFG VIIYKVFRHT 610 620 630 640 650 660 AGLKPEVSCF ENIRSCARGA LALLFLLGTT WIFGVLHVVH ASVVTAYLFT VSNAFQGMFI 670 680 690 FLFLCVLSRK IQEEYYRLFK NVPCCFGCLR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Probable G-protein coupled receptor." Hirose M., Urakawa I., Yamano S., Okazaki H. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-620. Tissue: Bone marrow.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-300.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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], VARIANT LEU-300. Tissue: Pancreas.
[6]	"ETL, a novel seven-transmembrane receptor that is developmentally regulated in the heart." Nechiporuk T., Urness L.D., Keating M.T. J. Biol. Chem. 276:4150-4157(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 67-690, VARIANT LEU-300.
[7]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249, MASS SPECTROMETRY. Tissue: Plasma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB032017 mRNA. Translation: BAD83584.1. AY358360 mRNA. Translation: AAQ88726.1. AL596269, AC098651, AC099674 Genomic DNA. Translation: CAI13205.1. CH471059 Genomic DNA. Translation: EAX06345.1. BC025721 mRNA. Translation: AAH25721.1. Different initiation. AF192403 mRNA. Translation: AAG33021.1. Different initiation.
IPI	IPI00848229.
RefSeq	NP_071442.2. NM_022159.3.
UniGene	Hs.132314.
3D structure databases
ProteinModelPortal	Q9HBW9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HBW9. 1 interaction.
STRING	9606.ENSP00000359778.
Protein family/group databases
MEROPS	S63.016.
GPCRDB	Search...
PTM databases
PhosphoSite	Q9HBW9.
Polymorphism databases
DMDM	212276505.
Proteomic databases
PaxDb	Q9HBW9.
PRIDE	Q9HBW9.
Protocols and materials databases
DNASU	64123.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370742; ENSP00000359778; ENSG00000162618.
GeneID	64123.
KEGG	hsa:64123.
UCSC	uc001diq.4. human.
Organism-specific databases
CTD	64123.
GeneCards	GC01M079355.
H-InvDB	HIX0000724.
HGNC	HGNC:20822. ELTD1.
HPA	HPA025229.
neXtProt	NX_Q9HBW9.
PharmGKB	PA134946418.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG276724.
HOGENOM	HOG000112361.
HOVERGEN	HBG101117.
InParanoid	Q9HBW9.
KO	K04595.
OMA	TKLMHTA.
OrthoDB	EOG4TF0JS.
PhylomeDB	Q9HBW9.
Gene expression databases
ArrayExpress	Q9HBW9.
Bgee	Q9HBW9.
CleanEx	HS_ELTD1.
Genevestigator	Q9HBW9.
GermOnline	ENSG00000162618. Homo sapiens.
Family and domain databases
Gene3D	2.40.155.10. 1 hit.
InterPro	IPR022624. DUF3497. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR023413. GFP_like. IPR017981. GPCR_2-like. IPR000832. GPCR_2_secretin-like. IPR017983. GPCR_2_secretin-like_CS. IPR000203. GPS_dom. [Graphical view]
Pfam	PF00002. 7tm_2. 1 hit. PF12003. DUF3497. 1 hit. PF07645. EGF_CA. 1 hit. PF01825. GPS. 1 hit. [Graphical view]
PRINTS	PR00249. GPCRSECRETIN.
SMART	SM00181. EGF. 1 hit. SM00179. EGF_CA. 1 hit. SM00303. GPS. 1 hit. [Graphical view]
PROSITE	PS00010. ASX_HYDROXYL. 1 hit. PS00018. EF_HAND_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 2 hits. PS01187. EGF_CA. 1 hit. PS00650. G_PROTEIN_RECEP_F2_2. 1 hit. PS50261. G_PROTEIN_RECEP_F2_4. 1 hit. PS50221. GPS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64123.
NextBio	66004.

Entry information

Entry name

ELTD1_HUMAN

Accession

Primary (citable) accession number: Q9HBW9
Secondary accession number(s): B1AR71, Q5KU34

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 16, 2004
Last sequence update:	November 4, 2008
Last modified:	May 1, 2013
This is version 110 of the entry and version 3 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.