ROBO3 roundabout guidance receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ROBO3provided by HGNC
Official Full Name: roundabout guidance receptor 3provided by HGNC
Primary source: HGNC:HGNC:13433
See related: Ensembl:ENSG00000154134 MIM:608630; AllianceGenome:HGNC:13433
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: HGPS; RIG1; HGPPS; RBIG1; HGPPS1
Summary: This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]
Expression: Ubiquitous expression in ovary (RPKM 7.2), spleen (RPKM 3.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (124865432..124881471)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (124894054..124910095)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (124735328..124751367)

Chromosome 11 - NC_000011.10 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 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?

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Title: Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients.
Title: Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients.
A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
Title: A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
[Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia].
Title: [Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia].
ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness.
Title: ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness.
Axon guidance receptor ROBO3 modulates subtype identity and prognosis via AXL-associated inflammatory network in pancreatic cancer.
Title: Axon guidance receptor ROBO3 modulates subtype identity and prognosis via AXL-associated inflammatory network in pancreatic cancer.
High ROBO3 expression predicts poor survival in non-M3 acute myeloid leukemia.
Title: High ROBO3 expression predicts poor survival in non-M3 acute myeloid leukemia.
Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.
Title: Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.
Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
Title: Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
Title: Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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
Gaze palsy, familial horizontal, with progressive scoliosis 1 MedGen: C4551964 OMIM: 607313 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon guidance	NAS Non-traceable Author Statement more info	PubMed
involved_in axon midline choice point recognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of axon guidance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: roundabout homolog 3

Names: retinoblastoma inhibiting gene 1; roundabout, axon guidance receptor, homolog 3; roundabout-like protein 3

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_016214.1 RefSeqGene

Range

5024..21063

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001370356.1 → NP_001357285.1 roundabout homolog 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2), as well as variants 3-6, encodes isoform b.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Related

ENST00000527196.5

Conserved Domains (1) summary

PRK12323
Location:175 → 374

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370357.1 → NP_001357286.1 roundabout homolog 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variants 2 and 4-6, encodes isoform b.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Conserved Domains (1) summary

PRK12323
Location:175 → 374

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370358.1 → NP_001357287.1 roundabout homolog 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 2, 3, 5, and 6, encodes isoform b.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Related

ENST00000525482.5

Conserved Domains (1) summary

PRK12323
Location:175 → 374

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370359.1 → NP_001357288.1 roundabout homolog 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 2-4 and 6, encodes isoform b.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Conserved Domains (1) summary

PRK12323
Location:175 → 374

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370361.1 → NP_001357290.1 roundabout homolog 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 2-5, encodes isoform b.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Conserved Domains (1) summary

PRK12323
Location:175 → 374

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370364.1 → NP_001357293.1 roundabout homolog 3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Conserved Domains (1) summary

PRK12323
Location:110 → 309

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001370366.1 → NP_001357295.1 roundabout homolog 3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.

Source sequence(s)

AP003501

UniProtKB/TrEMBL

B4DQG7

Conserved Domains (1) summary

PRK12323
Location:110 → 309

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_022370.4 → NP_071765.2 roundabout homolog 3 isoform a precursor

See identical proteins and their annotated locations for NP_071765.2

Status: REVIEWED

Description

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

Source sequence(s)

AY509035, N80769

Consensus CDS

CCDS44755.1

UniProtKB/Swiss-Prot

Q96MS0

UniProtKB/TrEMBL

F5GWJ5

Related

ENSP00000380903.1, ENST00000397801.6

Conserved Domains (4) summary

PRK12323
Location:1126 → 1325

PRK12323; DNA polymerase III subunit gamma/tau

cd00063
Location:556 → 649

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00096
Location:348 → 352

Ig; Ig strand A [structural motif]

cl11960
Location:348 → 445

Ig; Immunoglobulin domain

RNA

NR_163409.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501
NR_163410.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501
NR_163411.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501
NR_163412.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AK024697, AP003501

Related

ENST00000525448.5
NR_163413.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501
NR_163414.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501, BI914797
NR_163415.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP003501, CN309949