ROR1 receptor tyrosine kinase like orphan receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ROR1provided by HGNC
Official Full Name: receptor tyrosine kinase like orphan receptor 1provided by HGNC
Primary source: HGNC:HGNC:10256
See related: Ensembl:ENSG00000185483 MIM:602336; AllianceGenome:HGNC:10256
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NTRKR1; dJ537F10.1
Summary: 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]
Expression: Ubiquitous expression in lung (RPKM 2.7), endometrium (RPKM 2.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (63774017..64181498)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (63649841..64057220)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (64239688..64647181)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of the Ror family receptors in Wnt5a signaling.
Title: Role of the Ror family receptors in Wnt5a signaling.
Role of Wnt5b-Ror1 signaling in the proliferation of pancreatic ductal adenocarcinoma cells.
Title: Role of Wnt5b-Ror1 signaling in the proliferation of pancreatic ductal adenocarcinoma cells.
ROR1 expression in mature B lymphoid neoplasms by flow cytometry.
Title: ROR1 expression in mature B lymphoid neoplasms by flow cytometry.
The onco-embryonic antigen ROR1 is a target of chimeric antigen T cells for colorectal cancer.
Title: The onco-embryonic antigen ROR1 is a target of chimeric antigen T cells for colorectal cancer.
Evaluation of the prognostic significance of receptor tyrosine kinase-like orphan receptor 1 (ROR1) in lung carcinoma and its relation to lymphangiogenesis and epithelial mesenchymal transition.
Title: Evaluation of the prognostic significance of receptor tyrosine kinase-like orphan receptor 1 (ROR1) in lung carcinoma and its relation to lymphangiogenesis and epithelial mesenchymal transition.
ROR1/STAT3 positive feedback loop facilitates cartilage degeneration in Osteoarthritis through activation of NF-kappaB signaling pathway.
Title: ROR1/STAT3 positive feedback loop facilitates cartilage degeneration in Osteoarthritis through activation of NF-κB signaling pathway.
IGFBP5 is an ROR1 ligand promoting glioblastoma invasion via ROR1/HER2-CREB signaling axis.
Title: IGFBP5 is an ROR1 ligand promoting glioblastoma invasion via ROR1/HER2-CREB signaling axis.
Ror1 is expressed inducibly by Notch and hypoxia signaling and regulates stem cell-like property of glioblastoma cells.
Title: Ror1 is expressed inducibly by Notch and hypoxia signaling and regulates stem cell-like property of glioblastoma cells.
MIR-379-5p Expression in Endometrial Cancer and Its Correlation with ROR1 Expression.
Title: MIR-379-5p Expression in Endometrial Cancer and Its Correlation with ROR1 Expression.
ROR1: an orphan becomes apparent.
Title: ROR1: an orphan becomes apparent.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hearing loss, autosomal recessive 108 MedGen: C4539997 OMIM: 617654 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-105230 (e-PCR)
- UniSTS:169222

D1S3467 (e-PCR)
- UniSTS:32275

SHGC-105854 (e-PCR)
- UniSTS:169492

D1S515 (e-PCR)
- UniSTS:37933

AL009342 (e-PCR)
- UniSTS:83000

D1S515 (e-PCR)
- UniSTS:62521

SHGC-33176 (e-PCR)
- UniSTS:573

GDB:636104 (e-PCR)
- UniSTS:158526

SHGC-74930 (e-PCR)
- UniSTS:62023

SHGC-85179 (e-PCR)
- UniSTS:104024

G63269 (e-PCR)
- UniSTS:140382

D1S3254 (e-PCR)
- UniSTS:51552

AL033920 (e-PCR)
- UniSTS:93796

G16064 (e-PCR)
- UniSTS:33145

SHGC-62979 (e-PCR)
- UniSTS:95373

RH47810 (e-PCR)
- UniSTS:20894

RH120700 (e-PCR)
- UniSTS:132781

G34865 (e-PCR)
- UniSTS:66235

D1S2617 (e-PCR), detects polymorphism
- UniSTS:10734

SHGC-133047 (e-PCR)
- UniSTS:170992

ROR1__6895 (e-PCR)
- UniSTS:466419

D19S51 (e-PCR)
- UniSTS:146941

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables Wnt receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables coreceptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner ear development	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inactive tyrosine-protein kinase transmembrane receptor ROR1

Names: neurotrophic tyrosine kinase, receptor-related 1

NP_001077061.1

EC 2.7.10.1

NP_005003.2

EC 2.7.10.1

XP_011539828.1

EC 2.7.10.1

XP_016856865.1

EC 2.7.10.1

XP_016856866.1

EC 2.7.10.1

XP_054192774.1

EC 2.7.10.1

XP_054192775.1

EC 2.7.10.1

XP_054192776.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032801.2 RefSeqGene

Range

4999..412480

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001083592.2 → NP_001077061.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001077061.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a distinct 3' UTR and lacks an in-frame portion of the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter C-terminus that lacks a tyrosine kinase catalytic domain, compared to isoform 1.

Source sequence(s)

AL137859, AL161742, AL445205, BC080541

Consensus CDS

CCDS41344.1

UniProtKB/Swiss-Prot

Q01973

Related

ENSP00000360121.1, ENST00000371080.5

Conserved Domains (3) summary

cd07467
Location:166 → 307

CRD_TK_ROR1; Cysteine-rich domain of tyrosine kinase-like orphan receptor 1

smart00130
Location:311 → 392

KR; Kringle domain

smart00410
Location:66 → 148

IG_like; Immunoglobulin like
NM_005012.4 → NP_005003.2 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 1 precursor

See identical proteins and their annotated locations for NP_005003.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK000776, AK308088, AL137859, AL161742, AL445205, M97675

Consensus CDS

CCDS626.1

UniProtKB/Swiss-Prot

Q01973, Q5VVX6, Q66K77, Q92776

UniProtKB/TrEMBL

A2VCQ3

Related

ENSP00000360120.1, ENST00000371079.6

Conserved Domains (4) summary

cd07467
Location:166 → 307

CRD_TK_ROR1; Cysteine-rich domain of tyrosine kinase-like orphan receptor 1

smart00130
Location:311 → 393

KR; Kringle domain

smart00410
Location:66 → 148

IG_like; Immunoglobulin like

cd05090
Location:467 → 749

PTKc_Ror1; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

63774017..64181498

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541526.2 → XP_011539828.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X2

See identical proteins and their annotated locations for XP_011539828.1

UniProtKB/TrEMBL

A2VCQ3

Conserved Domains (4) summary

cd07467
Location:103 → 244

CRD_TK_ROR1; Cysteine-rich domain of tyrosine kinase-like orphan receptor 1

smart00130
Location:248 → 330

KR; Kringle domain

smart00409
Location:3 → 85

IG; Immunoglobulin

cd05090
Location:404 → 686

PTKc_Ror1; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 1
XM_017001377.2 → XP_016856866.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X2

UniProtKB/TrEMBL

A2VCQ3

Conserved Domains (4) summary

cd07467
Location:103 → 244

CRD_TK_ROR1; Cysteine-rich domain of tyrosine kinase-like orphan receptor 1

smart00130
Location:248 → 330

KR; Kringle domain

smart00409
Location:3 → 85

IG; Immunoglobulin

cd05090
Location:404 → 686

PTKc_Ror1; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 1
XM_017001376.2 → XP_016856865.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X1

UniProtKB/TrEMBL

A2VCQ3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

63649841..64057220

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336800.1 → XP_054192775.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X2

UniProtKB/TrEMBL

A2VCQ3
XM_054336801.1 → XP_054192776.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X2

UniProtKB/TrEMBL

A2VCQ3
XM_054336799.1 → XP_054192774.1 inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X1

UniProtKB/TrEMBL

A2VCQ3