UNC5A unc-5 netrin receptor A [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC5Aprovided by HGNC
Official Full Name: unc-5 netrin receptor Aprovided by HGNC
Primary source: HGNC:HGNC:12567
See related: Ensembl:ENSG00000113763 MIM:607869; AllianceGenome:HGNC:12567
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UNC5H1
Summary: UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
Expression: Biased expression in brain (RPKM 7.1) and adrenal (RPKM 2.6) See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (176810559..176880898)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177357147..177426724)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176237560..176307899)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These studies reveal an unexpected role of the axon guidance receptor UNC5A in fine-tuning ERalpha and EGFR signaling and the luminal progenitor status of hormone-sensitive breast cancers. Furthermore, UNC5A knockdown cells provide an ideal model system to investigate metastasis of ERalpha(+) breast cancers
Title: Dependence receptor UNC5A restricts luminal to basal breast cancer plasticity and metastasis.
The results suggest that netrin-1 promotes glioma cell proliferation by activating NF-kappaB signaling via UNC5A.
Title: Netrin-1 promotes glioma growth by activating NF-κB via UNC5A.
Such data indicate that cooperation between the UPR and UNC5A depletion as previously observed by ourselves in HCC patients samples may foster liver cancer development and growth.
Title: Hepatocellular carcinoma-associated depletion of the netrin-1 receptor Uncoordinated Phenotype-5A (UNC5A) skews the hepatic unfolded protein response towards prosurvival outcomes.
UNC5A is capable of impeding autophagy and promoting HCV restriction through specific impact on virion infectivity, in a cell death-independent and DAPK-related manner.
Title: Reciprocal antagonism between the netrin-1 receptor uncoordinated-phenotype-5A (UNC5A) and the hepatitis C virus.
FANCC interferes with UNC5A's functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A.
Title: The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.
these data suggest an important role for UNC5A, a candidate tumor suppressor, in predicting response to DNA damage induced by chemotherapeutic drug and regulating cell death in bladder cancer
Title: DNA damage-inducible gene, UNC5A, functions as a tumor-suppressor in bladder cancer.
UNC5A is a novel transcriptional target of p53 and plays a role in p53-dependent apoptosis
Title: Identification of UNC5A as a novel transcriptional target of tumor suppressor p53 and a regulator of apoptosis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
may represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis
Title: The netrin-1 receptors UNC5H are putative tumor suppressors controlling cell death commitment.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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-145520 (e-PCR)
- UniSTS:174626

SHGC-145534 (e-PCR)
- UniSTS:174633

STS-R17757 (e-PCR)
- UniSTS:32346

SHGC-144806 (e-PCR)
- UniSTS:172429

WI-21074 (e-PCR)
- UniSTS:17056

STS_04 (e-PCR)
- UniSTS:257015

RH78677 (e-PCR)
- UniSTS:25850

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables netrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anterior/posterior axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in netrin-activated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in neuron projection membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: netrin receptor UNC5A

Names: netrin receptor Unc5h1; protein unc-5 homolog 1; protein unc-5 homolog A; unc-5 homolog 1; unc-5 homolog A; unc5 (C.elegans homolog) a

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.

mRNA and Protein(s)

NM_133369.3 → NP_588610.2 netrin receptor UNC5A precursor

See identical proteins and their annotated locations for NP_588610.2

Status: VALIDATED

Source sequence(s)

AC091902, BC009333, BC033727, BI818609, BM712478

Consensus CDS

CCDS34299.1

UniProtKB/Swiss-Prot

B2RXE6, Q6ZN44, Q8TF26, Q96GP4

Related

ENSP00000332737.4, ENST00000329542.9

Conserved Domains (5) summary

smart00218
Location:439 → 542

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:245 → 293

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:151 → 239

I-set; Immunoglobulin I-set domain

cd08800
Location:755 → 838

Death_UNC5A; Death domain found in Uncoordinated-5A

cl11960
Location:153 → 239

Ig; Immunoglobulin domain

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

176810559..176880898

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714928.2 → XP_006714991.1 netrin receptor UNC5A isoform X3

UniProtKB/TrEMBL

H0Y8R2

Related

ENSP00000421795.2, ENST00000509580.2

Conserved Domains (5) summary

smart00218
Location:495 → 598

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:245 → 296

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:151 → 239

I-set; Immunoglobulin I-set domain

cd08800
Location:811 → 894

Death_UNC5A; Death domain found in Uncoordinated-5A

cl11960
Location:153 → 239

Ig; Immunoglobulin domain
XM_011534686.2 → XP_011532988.1 netrin receptor UNC5A isoform X1

Conserved Domains (4) summary

smart00218
Location:495 → 598

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:245 → 296

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:151 → 239

I-set; Immunoglobulin I-set domain

cl11960
Location:153 → 239

Ig; Immunoglobulin domain
XM_006714927.2 → XP_006714990.1 netrin receptor UNC5A isoform X2

Conserved Domains (4) summary

smart00218
Location:439 → 542

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00209
Location:245 → 293

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:151 → 239

I-set; Immunoglobulin I-set domain

cl11960
Location:153 → 239

Ig; Immunoglobulin domain
XM_011534687.3 → XP_011532989.1 netrin receptor UNC5A isoform X4

Conserved Domains (4) summary

smart00209
Location:245 → 296

TSP1; Thrombospondin type 1 repeats

pfam07679
Location:151 → 239

I-set; Immunoglobulin I-set domain

cl02517
Location:495 → 515

ZU5; ZU5 domain

cl11960
Location:153 → 239

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

177357147..177426724

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353750.1 → XP_054209725.1 netrin receptor UNC5A isoform X3

UniProtKB/TrEMBL

H0Y8R2
XM_054353748.1 → XP_054209723.1 netrin receptor UNC5A isoform X1
XM_054353749.1 → XP_054209724.1 netrin receptor UNC5A isoform X2
XM_054353751.1 → XP_054209726.1 netrin receptor UNC5A isoform X4