• Gene id: 4919

Gene Summary

• Gene Symbol: ROR1   Gene   UCSC   Ensembl
• Aliases: NTRKR1, dJ537F10.1
• Gene name: receptor tyrosine kinase like orphan receptor 1
• Alternate names: inactive tyrosine-protein kinase transmembrane receptor ROR1, neurotrophic tyrosine kinase, receptor-related 1,
• Gene location: 1p31.3 (63774016: 64181497)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602336

SNPs

rs397514561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

Protein Summary

• Protein general information: Q01973  
  • Name: Inactive tyrosine protein kinase transmembrane receptor ROR1 (Neurotrophic tyrosine kinase, receptor related 1)
  • Length: 937  
  • Mass: 104283
  • 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.
• Sequence:

  MHRPRRRGTRPPLLALLAALLLAARGAAAQETELSVSAELVPTSSWNISSELNKDSYLTLDEPMNNITTSLGQTA
  ELHCKVSGNPPPTIRWFKNDAPVVQEPRRLSFRSTIYGSRLRIRNLDTTDTGYFQCVATNGKEVVSSTGVLFVKF
  GPPPTASPGYSDEYEEDGFCQPYRGIACARFIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIP
  SLCHYAFPYCDETSSVPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPESPEAANCIRIG
  IPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHSYCRNPGNQKEAPWCF
  TLDENFKSDLCDIPACDSKDSKEKNKMEILYILVPSVAIPLAIALLFFFICVCRNNQKSSSAPVQRQPKHVRGQN
  VEMSMLNAYKPKSKAKELPLSAVRFMEELGECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEAS
  LMAELHHPNIVCLLGAVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIA
  AGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMPPEAIMYGKFSSDSDI
  WSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPRMYSLMTECWNEIPSRRPRFKDIHVRLRSWE
  GLSSHTSSTTPSGGNATTQTTSLSASPVSNLSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIP
  PGYAAFPAAHYQPTGPPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGIT
  VFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL

• Structural information:
  • Protein Domains: (42..14-)
    (/note="Ig-like-C2-type)
    (165..29-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090-)
    (312..39-)
    (/note="Kringle-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00121-)
    (473..74-)
    (/note="Protein-kinase)
    (/ev-)
  • Interpro: IPR020067  IPR036790  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR011009  IPR000001  IPR013806  IPR018056  IPR038178  IPR000719  IPR001245  IPR008266  IPR016247  
  • Prosite: PS50038 PS50835 PS00021 PS50070 PS50011 PS00109
  • CDD: cd00108
  • PDB: 5Z55 6BA5 6BAN 6TU9
  • PDBsum: 5Z55 6BA5 6BAN 6TU9
  • DIP: 29734
  • STRING: ENSP00000360120
• Other Databases: GeneCards:  ROR1  Malacards:  ROR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904929	coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway	TAS	molecular function
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IBA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	NOT|molecular function
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IBA	NOT|biological process
GO:0048856	anatomical structure development	IBA	biological process
GO:0043410	positive regulation of MAPK cascade	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0010976	positive regulation of neuron projection development	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	NOT|biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0042813	Wnt-activated receptor activity	IMP	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0048839	inner ear development	ISS	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001725	stress fiber	IEA	cellular component
GO:0048839	inner ear development	IEA	biological process
GO:0043679	axon terminus	IEA	cellular component
GO:0014002	astrocyte development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0017147	Wnt-protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray