Q14246 (EMR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 139.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: EGF-like module-containing mucin-like hormone receptor-like 1 Alternative name(s): EGF-like module receptor 1 EMR1 hormone receptor | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 886 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Could be involved in cell-cell interactions. |
| Subcellular location | |
| Tissue specificity | Wide expression; increased levels in peripheral blood mononuclear cells. |
| Sequence similarities | Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 6 EGF-like domains. Contains 1 GPS domain. |
| Sequence caution | The sequence BAC06133.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing 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 | cell adhesion Traceable author statement Ref.1. Source: ProtInc neuropeptide signaling pathwayInferred from electronic annotation. Source: InterPro |
| Cellular_component | external side of plasma membrane Inferred from electronic annotation. Source: Compara integral to plasma membraneTraceable author statement Ref.1. Source: ProtInc |
| Molecular_function | G-protein coupled receptor activity Traceable author statement Ref.1. Source: ProtInc calcium ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] Note: Comment=Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q14246-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q14246-2) The sequence of this isoform differs from the canonical sequence as follows: 599-663: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q14246-3) The sequence of this isoform differs from the canonical sequence as follows: 80-131: Missing. 764-764: I → VSKYYNSLAKCVLKEEQGDLRDLEFPGTCAAERI | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q14246-4) The sequence of this isoform differs from the canonical sequence as follows: 140-316: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q14246-5) The sequence of this isoform differs from the canonical sequence as follows: 80-131: Missing. 132-220: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 20 | 20 | Potential | ||||||||
| Chain | 21 – 886 | 866 | EGF-like module-containing mucin-like hormone receptor-like 1 | PRO_0000012873 | |||||||
Regions | |||||||||||
| Topological domain | 21 – 599 | 579 | Extracellular Potential | ||||||||
| Transmembrane | 600 – 627 | 28 | Helical; Name=1; Potential | ||||||||
| Topological domain | 628 – 634 | 7 | Cytoplasmic Potential | ||||||||
| Transmembrane | 635 – 656 | 22 | Helical; Name=2; Potential | ||||||||
| Topological domain | 657 – 666 | 10 | Extracellular Potential | ||||||||
| Transmembrane | 667 – 690 | 24 | Helical; Name=3; Potential | ||||||||
| Topological domain | 691 – 709 | 19 | Cytoplasmic Potential | ||||||||
| Transmembrane | 710 – 731 | 22 | Helical; Name=4; Potential | ||||||||
| Topological domain | 732 – 747 | 16 | Extracellular Potential | ||||||||
| Transmembrane | 748 – 776 | 29 | Helical; Name=5; Potential | ||||||||
| Topological domain | 777 – 794 | 18 | Cytoplasmic Potential | ||||||||
| Transmembrane | 795 – 814 | 20 | Helical; Name=6; Potential | ||||||||
| Topological domain | 815 – 829 | 15 | Extracellular Potential | ||||||||
| Transmembrane | 830 – 852 | 23 | Helical; Name=7; Potential | ||||||||
| Topological domain | 853 – 886 | 34 | Cytoplasmic Potential | ||||||||
| Domain | 31 – 79 | 49 | EGF-like 1 | ||||||||
| Domain | 80 – 131 | 52 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 132 – 171 | 40 | EGF-like 3; calcium-binding Potential | ||||||||
| Domain | 172 – 220 | 49 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 221 – 267 | 47 | EGF-like 5; calcium-binding Potential | ||||||||
| Domain | 268 – 316 | 49 | EGF-like 6; calcium-binding Potential | ||||||||
| Domain | 547 – 596 | 50 | GPS | ||||||||
| Compositional bias | 317 – 599 | 283 | Ser/Thr-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 94 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 99 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 127 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 167 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 189 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 194 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 232 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 258 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 312 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 366 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 375 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 448 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 35 ↔ 47 | By similarity | |||||||||
| Disulfide bond | 41 ↔ 56 | By similarity | |||||||||
| Disulfide bond | 58 ↔ 78 | By similarity | |||||||||
| Disulfide bond | 84 ↔ 97 | By similarity | |||||||||
| Disulfide bond | 91 ↔ 106 | By similarity | |||||||||
| Disulfide bond | 108 ↔ 130 | By similarity | |||||||||
| Disulfide bond | 136 ↔ 148 | By similarity | |||||||||
| Disulfide bond | 142 ↔ 157 | By similarity | |||||||||
| Disulfide bond | 159 ↔ 170 | By similarity | |||||||||
| Disulfide bond | 176 ↔ 188 | By similarity | |||||||||
| Disulfide bond | 182 ↔ 197 | By similarity | |||||||||
| Disulfide bond | 199 ↔ 219 | By similarity | |||||||||
| Disulfide bond | 225 ↔ 235 | By similarity | |||||||||
| Disulfide bond | 229 ↔ 244 | By similarity | |||||||||
| Disulfide bond | 246 ↔ 266 | By similarity | |||||||||
| Disulfide bond | 272 ↔ 285 | By similarity | |||||||||
| Disulfide bond | 279 ↔ 294 | By similarity | |||||||||
| Disulfide bond | 296 ↔ 315 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 80 – 131 | 52 | Missing in isoform 3 and isoform 5. | VSP_045521 | |||||||
| Alternative sequence | 132 – 220 | 89 | Missing in isoform 5. | VSP_045522 | |||||||
| Alternative sequence | 140 – 316 | 177 | Missing in isoform 4. | VSP_045523 | |||||||
| Alternative sequence | 599 – 663 | 65 | Missing in isoform 2. | VSP_009594 | |||||||
| Alternative sequence | 764 | 1 | I → VSKYYNSLAKCVLKEEQGDL RDLEFPGTCAAERI in isoform 3. | VSP_045524 | |||||||
| Natural variant | 2 | 1 | R → L. Corresponds to variant rs34176643 [ dbSNP | Ensembl ]. | VAR_046976 | |||||||
| Natural variant | 57 | 1 | A → T. Ref.1 Ref.4 Corresponds to variant rs330877 [ dbSNP | Ensembl ]. | VAR_027616 | |||||||
| Natural variant | 140 | 1 | S → R. Ref.1 Corresponds to variant rs330880 [ dbSNP | Ensembl ]. | VAR_027617 | |||||||
| Natural variant | 174 | 1 | D → N. Ref.1 Corresponds to variant rs897738 [ dbSNP | Ensembl ]. | VAR_027618 | |||||||
| Natural variant | 254 | 1 | N → S. Ref.1 Corresponds to variant rs443658 [ dbSNP | Ensembl ]. | VAR_027619 | |||||||
| Natural variant | 298 | 1 | A → V. Ref.1 Corresponds to variant rs370094 [ dbSNP | Ensembl ]. | VAR_027620 | |||||||
| Natural variant | 389 | 1 | T → M. Ref.1 Corresponds to variant rs466876 [ dbSNP | Ensembl ]. | VAR_027621 | |||||||
| Natural variant | 424 | 1 | I → V. Ref.1 Ref.2 Ref.4 Corresponds to variant rs457857 [ dbSNP | Ensembl ]. | VAR_027622 | |||||||
| Natural variant | 496 | 1 | K → Q. Ref.1 Ref.2 Ref.4 Corresponds to variant rs373533 [ dbSNP | Ensembl ]. | VAR_027623 | |||||||
| Natural variant | 539 | 1 | I → V. Ref.1 Ref.2 Ref.4 Corresponds to variant rs461645 [ dbSNP | Ensembl ]. | VAR_027624 | |||||||
| Natural variant | 589 | 1 | V → I. Ref.4 Ref.6 Corresponds to variant rs7256147 [ dbSNP | Ensembl ]. | VAR_027625 | |||||||
| Natural variant | 663 | 1 | M → T. Ref.1 Corresponds to variant rs2228539 [ dbSNP | Ensembl ]. | VAR_046977 | |||||||
| Natural variant | 691 | 1 | F → C. Corresponds to variant rs2229769 [ dbSNP | Ensembl ]. | VAR_027626 | |||||||
| Natural variant | 724 | 1 | V → L. Corresponds to variant rs10406580 [ dbSNP | Ensembl ]. | VAR_027627 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 61 | 1 | G → R in BAH12472. Ref.4 | ||||||||
| Sequence conflict | 212 | 1 | F → C in CAA57232. Ref.1 | ||||||||
| Sequence conflict | 424 | 1 | I → A in BAH12475. Ref.4 | ||||||||
| Sequence conflict | 430 | 1 | T → A in CAA57232. Ref.1 | ||||||||
| Sequence conflict | 545 | 1 | F → L in BAH12475. Ref.4 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments." Baud V., Chissoe S.L., Viegas-Pequignot E., Diriong S., N'Guyen V.C., Roe B.A., Lipinski M. Genomics 26:334-344(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS THR-57; ARG-140; ASN-174; SER-254; VAL-298; MET-389; VAL-424; GLN-496; VAL-539 AND THR-663. |
| [2] | "Genome-wide discovery and analysis of human seven transmembrane helix receptor genes." Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-424; GLN-496 AND VAL-539. |
| [3] | "Genetic variation in EMR1 gene." Tan J., Davila S., Hibberd M.L., Seielstad M. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5), VARIANTS THR-57; VAL-424; GLN-496; VAL-539 AND ILE-589. Tissue: Thymus and Umbilical cord blood. |
| [5] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 2), VARIANT ILE-589. Tissue: Placenta. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X81479 mRNA. Translation: CAA57232.1. AB065918 Genomic DNA. Translation: BAC06133.1. Sequence problems. DQ217942 Genomic DNA. Translation: ABB70739.1. AK131562 mRNA. Translation: BAD18695.1. AK297003 mRNA. Translation: BAH12472.1. AK297011 mRNA. Translation: BAH12475.1. AC020895 Genomic DNA. No translation available. AC025278 Genomic DNA. No translation available. BC059395 mRNA. Translation: AAH59395.1. |
| IPI | IPI00409744. IPI00441994. IPI00922168. IPI00940086. IPI01018981. |
| PIR | A57172. |
| RefSeq | NP_001243181.1. NM_001256252.1. NP_001243182.1. NM_001256253.1. NP_001243183.1. NM_001256254.1. NP_001243184.1. NM_001256255.1. NP_001965.3. NM_001974.4. |
| UniGene | Hs.2375. |
3D structure databases | |
| ProteinModelPortal | Q14246. |
| SMR | Q14246. Positions 38-367. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q14246. 1 interaction. |
| STRING | 9606.ENSP00000311545. |
Protein family/group databases | |
| MEROPS | S63.004. |
| GPCRDB | Search... |
PTM databases | |
| PhosphoSite | Q14246. |
Polymorphism databases | |
| DMDM | 290457673. |
Proteomic databases | |
| PaxDb | Q14246. |
| PRIDE | Q14246. |
Protocols and materials databases | |
| DNASU | 2015. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000250572; ENSP00000250572; ENSG00000174837. ENST00000312053; ENSP00000311545; ENSG00000174837. ENST00000381404; ENSP00000370811; ENSG00000174837. ENST00000381407; ENSP00000370814; ENSG00000174837. ENST00000450315; ENSP00000405974; ENSG00000174837. |
| GeneID | 2015. |
| KEGG | hsa:2015. |
| UCSC | uc002mfw.3. human. uc010dvc.3. human. |
Organism-specific databases | |
| CTD | 2015. |
| GeneCards | GC19P006838. |
| H-InvDB | HIX0021954. HIX0174373. |
| HGNC | HGNC:3336. EMR1. |
| HPA | HPA052809. |
| MIM | 600493. gene. |
| neXtProt | NX_Q14246. |
| PharmGKB | PA27773. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG239437. |
| HOGENOM | HOG000294115. |
| HOVERGEN | HBG048917. |
| InParanoid | Q14246. |
| KO | K04591. |
| OMA | QVGFISR. |
| PhylomeDB | Q14246. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | Q14246. |
| Bgee | Q14246. |
| CleanEx | HS_EMR1. |
| Genevestigator | Q14246. |
| GermOnline | ENSG00000174837. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026823. cEGF. 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. IPR017981. GPCR_2-like. IPR001740. GPCR_2_EMR1_rcpt. IPR000832. GPCR_2_secretin-like. IPR017983. GPCR_2_secretin-like_CS. IPR000203. GPS_dom. [Graphical view] |
| Pfam | PF00002. 7tm_2. 1 hit. PF12662. cEGF. 1 hit. PF07645. EGF_CA. 4 hits. PF01825. GPS. 1 hit. [Graphical view] |
| PRINTS | PR01128. EMR1HORMONER. PR00249. GPCRSECRETIN. |
| SMART | SM00181. EGF. 1 hit. SM00179. EGF_CA. 5 hits. SM00303. GPS. 1 hit. [Graphical view] |
| PROSITE | PS00010. ASX_HYDROXYL. 6 hits. PS00022. EGF_1. False negative. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 6 hits. PS01187. EGF_CA. 5 hits. 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 | 2015. |
| NextBio | 8163. |
| SOURCE | Search... |
Entry information
| Entry name | EMR1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14246 Secondary accession number(s): A6NHV2 Q8NGA7 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| 7-transmembrane G-linked receptors List of 7-transmembrane G-linked receptor entries |
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
