Q01973 (ROR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 135.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Tyrosine-protein kinase transmembrane receptor ROR1 EC=2.7.10.1 Alternative name(s): Neurotrophic tyrosine kinase, receptor-related 1 | ||||
| Gene names |
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| 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 | 937 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 | Tyrosine-protein kinase receptor whose role is not yet clear. |
| Catalytic activity | ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. |
| Subcellular location | |
| Tissue specificity | Expressed strongly in human heart, lung and kidney, but weakly in the CNS. Isoform Short is strongly expressed in fetal and adult CNS and in a variety of human cancers, including those originating from CNS or PNS neuroectoderm. |
| Developmental stage | Expressed at high levels during early embryonic development. The expression levels drop strongly around day 16 and there are only very low levels in adult tissues. |
| Sequence similarities | Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. Contains 1 FZ (frizzled) domain. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 kringle domain. Contains 1 protein kinase domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Immunoglobulin domain Kringle Signal Transmembrane Transmembrane helix |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Kinase Receptor Transferase Tyrosine-protein kinase |
| PTM | Disulfide bond Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | transmembrane receptor protein tyrosine kinase signaling pathway Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | cytoplasm Traceable author statement Ref.2. Source: ProtInc integral to plasma membraneTraceable author statement Ref.1. Source: ProtInc |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW transmembrane receptor protein tyrosine kinase activityTraceable author statement Ref.2. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| EGFR | P00533 | 8 | EBI-6082337,EBI-297353 | |
| SRC | P12931 | 9 | EBI-6082337,EBI-621482 | |
| Src | P05480 | 3 | EBI-6082337,EBI-298680 | From a different organism. |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: Q01973-1) 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 Short (identifier: Q01973-2) Also known as: T-ROR1; The sequence of this isoform differs from the canonical sequence as follows: 1-549: Missing. | ||||||
| Isoform 3 (identifier: Q01973-3) The sequence of this isoform differs from the canonical sequence as follows: 392-393: DS → GK 394-937: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 29 | 29 | Potential | ||||||||
| Chain | 30 – 937 | 908 | Tyrosine-protein kinase transmembrane receptor ROR1 | PRO_0000024458 | |||||||
Regions | |||||||||||
| Topological domain | 30 – 406 | 377 | Extracellular Potential | ||||||||
| Transmembrane | 407 – 427 | 21 | Helical; Potential | ||||||||
| Topological domain | 428 – 937 | 510 | Cytoplasmic Potential | ||||||||
| Domain | 42 – 147 | 106 | Ig-like C2-type | ||||||||
| Domain | 165 – 299 | 135 | FZ | ||||||||
| Domain | 312 – 391 | 80 | Kringle | ||||||||
| Domain | 473 – 746 | 274 | Protein kinase | ||||||||
| Nucleotide binding | 479 – 487 | 9 | ATP By similarity | ||||||||
| Compositional bias | 753 – 782 | 30 | Ser/Thr-rich | ||||||||
| Compositional bias | 784 – 851 | 68 | Pro-rich | ||||||||
| Compositional bias | 853 – 876 | 24 | Ser/Thr-rich | ||||||||
Sites | |||||||||||
| Active site | 615 | 1 | Proton acceptor By similarity | ||||||||
| Binding site | 506 | 1 | ATP By similarity | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 645 | 1 | Phosphotyrosine; by autocatalysis By similarity | ||||||||
| Glycosylation | 47 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 66 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 184 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 315 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 79 ↔ 131 | By similarity | |||||||||
| Disulfide bond | 170 ↔ 235 | By similarity | |||||||||
| Disulfide bond | 178 ↔ 228 | By similarity | |||||||||
| Disulfide bond | 219 ↔ 260 | By similarity | |||||||||
| Disulfide bond | 248 ↔ 296 | By similarity | |||||||||
| Disulfide bond | 252 ↔ 282 | By similarity | |||||||||
| Disulfide bond | 313 ↔ 391 | By similarity | |||||||||
| Disulfide bond | 334 ↔ 374 | By similarity | |||||||||
| Disulfide bond | 362 ↔ 386 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 549 | 549 | Missing in isoform Short. | VSP_005008 | |||||||
| Alternative sequence | 392 – 393 | 2 | DS → GK in isoform 3. | VSP_043663 | |||||||
| Alternative sequence | 394 – 937 | 544 | Missing in isoform 3. | VSP_043664 | |||||||
| Natural variant | 144 | 1 | G → E in a metastatic melanoma sample; somatic mutation. Ref.7 | VAR_041779 | |||||||
| Natural variant | 150 | 1 | F → L in an ovarian mucinous carcinoma sample; somatic mutation. Ref.7 | VAR_041780 | |||||||
| Natural variant | 301 | 1 | I → V in a renal clear cell carcinoma sample; somatic mutation. Ref.7 | VAR_041781 | |||||||
| Natural variant | 518 | 1 | T → M. Ref.1 Ref.7 Corresponds to variant rs7527017 [ dbSNP | Ensembl ]. | VAR_041782 | |||||||
| Natural variant | 562 | 1 | E → D in a breast cancer sample; somatic mutation. Ref.6 | VAR_035713 | |||||||
| Natural variant | 567 | 1 | R → I in a colorectal adenocarcinoma sample; somatic mutation. Ref.7 | VAR_041783 | |||||||
| Natural variant | 624 | 1 | G → R. Ref.7 Corresponds to variant rs55832740 [ dbSNP | Ensembl ]. | VAR_041784 | |||||||
| Natural variant | 646 | 1 | Y → C. Ref.7 Corresponds to variant rs34109134 [ dbSNP | Ensembl ]. | VAR_041785 | |||||||
| Natural variant | 776 | 1 | S → N in a colorectal adenocarcinoma sample; somatic mutation. Ref.7 | VAR_041786 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel family of cell surface receptors with tyrosine kinase-like domain." Masiakowski P., Carroll R.D. J. Biol. Chem. 267:26181-26190(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT MET-518. |
| [2] | "Human neural tissues express a truncated Ror1 receptor tyrosine kinase, lacking both extracellular and transmembrane domains." Reddy U.R., Phatak S., Pleasure D. Oncogene 13:1555-1559(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). |
| [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. 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., 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. 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] (ISOFORM 3). Tissue: Brain. |
| [6] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-562. |
| [7] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-144; LEU-150; VAL-301; MET-518; ILE-567; ARG-624; CYS-646 AND ASN-776. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M97675 mRNA. Translation: AAA60275.1. U38894 mRNA. Translation: AAC50714.1. AL137859, AL161742, AL445205 Genomic DNA. Translation: CAC17591.2. AL445205, AL137859, AL161742 Genomic DNA. Translation: CAH71705.1. AL445205, AL137859, AL161742 Genomic DNA. Translation: CAH71706.1. AL137859, AL445205, AL161742 Genomic DNA. Translation: CAI21732.1. AL161742, AL137859, AL445205 Genomic DNA. Translation: CAI21931.1. AL161742, AL445205, AL137859 Genomic DNA. Translation: CAI21932.1. AL138793 Genomic DNA. No translation available. AL353713 Genomic DNA. No translation available. AL808029 Genomic DNA. No translation available. AL808030 Genomic DNA. No translation available. CH471059 Genomic DNA. Translation: EAX06556.1. BC080541 mRNA. Translation: AAH80541.1. |
| IPI | IPI00010405. IPI00472950. IPI00644416. |
| PIR | A45082. |
| RefSeq | NP_001077061.1. NM_001083592.1. NP_005003.2. NM_005012.3. |
| UniGene | Hs.128753. |
3D structure databases | |
| ProteinModelPortal | Q01973. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29734N. DIP-5713N. |
| IntAct | Q01973. 8 interactions. |
| STRING | 9606.ENSP00000360120. |
PTM databases | |
| PhosphoSite | Q01973. |
Polymorphism databases | |
| DMDM | 118572711. |
Proteomic databases | |
| PaxDb | Q01973. |
| PRIDE | Q01973. |
Protocols and materials databases | |
| DNASU | 4919. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000371079; ENSP00000360120; ENSG00000185483. ENST00000371080; ENSP00000360121; ENSG00000185483. ENST00000545203; ENSP00000441637; ENSG00000185483. |
| GeneID | 4919. |
| KEGG | hsa:4919. |
| UCSC | uc001dbj.2. human. |
Organism-specific databases | |
| CTD | 4919. |
| GeneCards | GC01P064239. |
| HGNC | HGNC:10256. ROR1. |
| MIM | 602336. gene. |
| neXtProt | NX_Q01973. |
| PharmGKB | PA34628. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0515. |
| HOVERGEN | HBG017736. |
| InParanoid | Q01973. |
| KO | K05122. |
| OrthoDB | EOG4XGZZC. |
| PhylomeDB | Q01973. |
Enzyme and pathway databases | |
| BRENDA | 2.7.10.1. 2681. |
Gene expression databases | |
| Bgee | Q01973. |
| CleanEx | HS_ROR1. |
| Genevestigator | Q01973. |
| GermOnline | ENSG00000185483. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.40.20.10. 1 hit. 2.60.40.10. 1 hit. |
| InterPro | IPR020067. Frizzled_dom. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003598. Ig_sub2. IPR011009. Kinase-like_dom. IPR000001. Kringle. IPR013806. Kringle-like. IPR018056. Kringle_CS. IPR000719. Prot_kinase_cat_dom. IPR001245. Ser-Thr/Tyr_kinase_cat_dom. IPR008266. Tyr_kinase_AS. IPR020635. Tyr_kinase_cat_dom. IPR016247. Tyr_kinase_rcpt_ROR. [Graphical view] |
| Pfam | PF01392. Fz. 1 hit. PF07679. I-set. 1 hit. PF00051. Kringle. 1 hit. PF07714. Pkinase_Tyr. 1 hit. [Graphical view] |
| PIRSF | PIRSF000624. TyrPK_TMrec_ROR. 1 hit. |
| PRINTS | PR00109. TYRKINASE. |
| SMART | SM00408. IGc2. 1 hit. SM00130. KR. 1 hit. SM00219. TyrKc. 1 hit. [Graphical view] |
| SUPFAM | SSF56112. Kinase_like. 1 hit. SSF57440. Kringle-like. 1 hit. |
| PROSITE | PS50038. FZ. 1 hit. PS50835. IG_LIKE. 1 hit. PS00021. KRINGLE_1. 1 hit. PS50070. KRINGLE_2. 1 hit. PS00107. PROTEIN_KINASE_ATP. False negative. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00109. PROTEIN_KINASE_TYR. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ROR1. human. |
| GenomeRNAi | 4919. |
| NextBio | 18939. |
| SOURCE | Search... |
Entry information
| Entry name | ROR1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q01973 Secondary accession number(s): Q5VVX6, Q66K77, Q92776 | ||||||||
| 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
| Human and mouse protein kinases Human and mouse protein kinases: classification and index |
| Human chromosome 1 Human chromosome 1: 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
