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This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]
ROR1 (Receptor Tyrosine Kinase Like Orphan Receptor 1) is a Protein Coding gene. Diseases associated with ROR1 include Deafness, Autosomal Recessive 108 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ROR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004714 | NOT transmembrane receptor protein tyrosine kinase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 22439932 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS,IDA | 27162350 |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0009986 | cell surface | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
5 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.69
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007169 | NOT transmembrane receptor protein tyrosine kinase signaling pathway | IEA,IBA | 21873635 |
GO:0007275 | multicellular organism development | IBA | 21873635 |
GO:0007399 | nervous system development | IBA | 21873635 |
GO:0007605 | sensory perception of sound | IMP | 27162350 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ROR1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ROR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ROR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ROR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ror1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ror1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ROR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ROR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ROR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ror1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ror1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006219 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ror 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cam-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13123 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709548 | Benign: not provided | 64,177,595(+) | G/A | SYNONYMOUS_VARIANT | |
752807 | Likely Benign: not provided | 64,178,465(+) | G/A | SYNONYMOUS_VARIANT | |
761148 | Likely Benign: not provided | 64,178,708(+) | A/G | SYNONYMOUS_VARIANT | |
788763 | Benign: not provided | 64,142,631(+) | G/A | SYNONYMOUS_VARIANT | |
805275 | Benign: not provided | 64,178,111(+) | C/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2664106 | CNV | deletion | 23128226 |
esv2676273 | CNV | deletion | 23128226 |
esv2749085 | CNV | deletion | 23290073 |
esv3305358 | CNV | mobile element insertion | 20981092 |
esv3309693 | CNV | mobile element insertion | 20981092 |
esv3376683 | CNV | insertion | 20981092 |
esv3411421 | CNV | insertion | 20981092 |
esv3431289 | CNV | insertion | 20981092 |
esv3586248 | CNV | gain | 21293372 |
esv3586249 | CNV | loss | 21293372 |
esv3586250 | CNV | loss | 21293372 |
esv3586252 | CNV | loss | 21293372 |
esv8740 | CNV | gain | 19470904 |
esv993189 | CNV | deletion | 20482838 |
nsv1154 | CNV | deletion | 18451855 |
nsv823087 | CNV | loss | 20364138 |
nsv830037 | CNV | gain | 17160897 |
nsv945976 | CNV | duplication | 23825009 |
nsv945977 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 108 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
adenocarcinoma |
|
|
mantle cell lymphoma |
|
|
breast cancer |
|
|