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UNC5D unc-5 netrin receptor D [ Homo sapiens (human) ]

Gene ID: 137970, updated on 3-Apr-2024

Summary

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Official Symbol
UNC5Dprovided by HGNC
Official Full Name
unc-5 netrin receptor Dprovided by HGNC
Primary source
HGNC:HGNC:18634
See related
Ensembl:ENSG00000156687 MIM:616466; AllianceGenome:HGNC:18634
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
Unc5h4; PRO34692
Summary
Predicted to enable netrin receptor activity. Involved in cell-cell adhesion via plasma-membrane adhesion molecules. Predicted to be located in cell surface and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 2.7), duodenum (RPKM 2.4) and 8 other tissues See more
Orthologs
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Genomic context

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Location:
8p12
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (35235475..35796540)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (35511078..36072635)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (35092993..35654058)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379368 Neighboring gene uncharacterized LOC105379369 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:34939898-34941097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:35034197-35034738 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:35143680-35144180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:35144181-35144681 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:35234331-35234832 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:35234833-35235332 Neighboring gene MPRA-validated peak6991 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:35344139-35345338 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:35390756-35391343 Neighboring gene NANOG hESC enhancer GRCh37_chr8:35441394-35441898 Neighboring gene LSM12 pseudogene 1 Neighboring gene uncharacterized LOC101929550 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:35576107-35577009 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:35640853-35641498 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:35686142-35687341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:35712099-35712599 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:35717700-35718899 Neighboring gene NANOG hESC enhancer GRCh37_chr8:35803026-35803568 Neighboring gene uncharacterized LOC124902062 Neighboring gene NANOG hESC enhancer GRCh37_chr8:35838029-35838530 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:35913168-35913997 Neighboring gene uncharacterized LOC105379370

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. UNC5D, suppressed by promoter hypermethylation, inhibits cell metastasis by activating death-associated protein kinase 1 in prostate cancer. Dong D, et al. Cancer Sci, 2019 Apr. PMID 30632669, Free PMC Article
  2. Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment. Wang Z, et al. Environ Health, 2017 Jul 28. PMID 28754176, Free PMC Article
  3. Overexpression of the dependence receptor UNC5H4 inhibits cell migration and invasion, and triggers apoptosis in neuroblastoma cell. Wang H, et al. Tumour Biol, 2014 Jun. PMID 24519068
  4. The tumor-suppressive function of UNC5D and its repressed expression in renal cell carcinoma. Lu D, et al. Clin Cancer Res, 2013 Jun 1. PMID 23589179
  5. Identification of the genes that are expressed in the upper layers of the neocortex. Zhong Y, et al. Cereb Cortex, 2004 Oct. PMID 15142956

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The expression of UNC5D is abnormal in the early stage of colorectal tumors associated with its proliferation and migration.
    Title: The expression of UNC5D is abnormal in the early stage of colorectal tumors associated with its proliferation and migration.
  2. Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer.
    Title: Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer.
  3. these results suggested that UNC5D as a novel putative metastatic suppressor gene that is commonly down-regulated by hypermethylation in PCa.
    Title: UNC5D, suppressed by promoter hypermethylation, inhibits cell metastasis by activating death-associated protein kinase 1 in prostate cancer.
  4. The authors identified a locus on chromosome 8, containing UNC5D, and demonstrated evidence of its genome-wide significance with mental composite scores. Within this locus, the joint effects of two independent single nucleotide polymorphisms had a p-value of 4.38 x 10(-9) for mental composite scores.
    Title: Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment.
  5. Unc5D is thus a newly identified transcriptional target of proapoptotic p53 and may also act upstream of p53 to induce p53dependent apoptosis by phosphorylation at ser15.
    Title: Unc5D regulates p53-dependent apoptosis in neuroblastoma cells.
  6. the dependence receptor UNC5H4 may act as a putative tumor suppressor in neuroblastoma.
    Title: Overexpression of the dependence receptor UNC5H4 inhibits cell migration and invasion, and triggers apoptosis in neuroblastoma cell.
  7. UNC5D is a functional tumor suppressor that is frequently downregulated in RCCs due to promoter hypermethylation and LOH.
    Title: The tumor-suppressive function of UNC5D and its repressed expression in renal cell carcinoma.
  8. UNC5D forms a positive feedback loop with p53 and E2F1 to promote NGF dependence-mediated programmed cell death during neuroblastoma regression.
    Title: Dependence receptor UNC5D mediates nerve growth factor depletion-induced neuroblastoma regression.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. UNC5H4 amplifies p53-dependent apoptotic response.
    Title: A newly identified dependence receptor UNC5H4 is induced during DNA damage-mediated apoptosis and transcriptional target of tumor suppressor p53.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16019, KIAA1777

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 apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in netrin-activated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in pyramidal neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neuron migration IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
netrin receptor UNC5D
Names
netrin receptor Unc5h4
protein unc-5 homolog 4
protein unc-5 homolog D
unc-5 homolog 4
unc-5 homolog D

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)

  1. NM_001322818.2 → NP_001309747.1  netrin receptor UNC5D isoform 2

    Status: VALIDATED

    Source sequence(s)
    AB055056, AC013302, AI004193, AK092313, CK904280, CN289823
    Consensus CDS
    CCDS83279.1
    UniProtKB/TrEMBL
    C9J2B6
    Related
    ENSP00000394303.2, ENST00000453357.6
    Conserved Domains (5) summary
    cd08801
    Location:848 → 945
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:250 → 301
    TSP1; Thrombospondin type 1 repeats
    pfam00791
    Location:538 → 634
    ZU5; ZU5 domain
    pfam17217
    Location:682 → 821
    UPA; UPA domain
    cl11960
    Location:158 → 244
    Ig; Immunoglobulin domain

  2. NM_001410918.1 → NP_001397847.1  netrin receptor UNC5D isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC012215, AC013302, AC099685, AC105230
    Consensus CDS
    CCDS94280.1
    UniProtKB/TrEMBL
    C9J1I0
    Related
    ENSP00000392739.1, ENST00000420357.5

  3. NM_080872.4 → NP_543148.2  netrin receptor UNC5D isoform 1 precursor

    See identical proteins and their annotated locations for NP_543148.2

    Status: VALIDATED

    Source sequence(s)
    AB055056, AB073394, AI004193, AK092313, AY358147, BY798317, CK904280, CN289823
    Consensus CDS
    CCDS6093.2
    UniProtKB/Swiss-Prot
    Q6UXZ4, Q8WYP7
    UniProtKB/TrEMBL
    C9J2B6
    Related
    ENSP00000385143.2, ENST00000404895.7
    Conserved Domains (5) summary
    cd08801
    Location:853 → 950
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:255 → 306
    TSP1; Thrombospondin type 1 repeats
    pfam00791
    Location:543 → 639
    ZU5; ZU5 domain
    pfam17217
    Location:687 → 826
    UPA; UPA domain
    cl11960
    Location:163 → 249
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    35235475..35796540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013044.2 → XP_016868533.1  netrin receptor UNC5D isoform X1

    UniProtKB/TrEMBL
    C9J2B6

  2. XM_017013045.2 → XP_016868534.1  netrin receptor UNC5D isoform X2

    UniProtKB/TrEMBL
    C9J2B6

  3. XM_011544401.4 → XP_011542703.1  netrin receptor UNC5D isoform X5

    See identical proteins and their annotated locations for XP_011542703.1

    UniProtKB/TrEMBL
    C9J2B6
    Conserved Domains (5) summary
    cd08801
    Location:840 → 937
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:255 → 306
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:161 → 249
    I-set; Immunoglobulin I-set domain
    pfam00791
    Location:529 → 624
    ZU5; ZU5 domain
    cl11960
    Location:163 → 249
    Ig; Immunoglobulin domain

  4. XM_017013046.2 → XP_016868535.1  netrin receptor UNC5D isoform X3

    UniProtKB/TrEMBL
    C9J2B6

  5. XM_011544400.3 → XP_011542702.1  netrin receptor UNC5D isoform X4

    See identical proteins and their annotated locations for XP_011542702.1

    UniProtKB/TrEMBL
    C9J2B6
    Conserved Domains (5) summary
    cd08801
    Location:842 → 939
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:255 → 306
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:161 → 249
    I-set; Immunoglobulin I-set domain
    pfam00791
    Location:531 → 626
    ZU5; ZU5 domain
    cl11960
    Location:163 → 249
    Ig; Immunoglobulin domain

  6. XM_047421375.1 → XP_047277331.1  netrin receptor UNC5D isoform X6

  7. XM_017013047.2 → XP_016868536.1  netrin receptor UNC5D isoform X7

    UniProtKB/TrEMBL
    C9J2B6

  8. XM_047421377.1 → XP_047277333.1  netrin receptor UNC5D isoform X8

  9. XM_011544402.3 → XP_011542704.1  netrin receptor UNC5D isoform X11

    See identical proteins and their annotated locations for XP_011542704.1

    UniProtKB/TrEMBL
    C9J2B6
    Conserved Domains (5) summary
    cd08801
    Location:797 → 894
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:255 → 303
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:161 → 249
    I-set; Immunoglobulin I-set domain
    pfam00791
    Location:486 → 581
    ZU5; ZU5 domain
    cl11960
    Location:163 → 249
    Ig; Immunoglobulin domain

  10. XM_011544404.3 → XP_011542706.1  netrin receptor UNC5D isoform X13

    See identical proteins and their annotated locations for XP_011542706.1

    UniProtKB/TrEMBL
    C9J2B6, H7BXJ2
    Related
    ENSP00000287272.2, ENST00000287272.6
    Conserved Domains (5) summary
    cd08801
    Location:784 → 881
    Death_UNC5D; Death domain found in Uncoordinated-5D
    smart00209
    Location:255 → 303
    TSP1; Thrombospondin type 1 repeats
    pfam00791
    Location:474 → 570
    ZU5; ZU5 domain
    pfam17217
    Location:618 → 757
    UPA; UPA domain
    cl11960
    Location:163 → 249
    Ig; Immunoglobulin domain

  11. XM_047421378.1 → XP_047277334.1  netrin receptor UNC5D isoform X9

  12. XM_047421379.1 → XP_047277335.1  netrin receptor UNC5D isoform X10

  13. XM_047421381.1 → XP_047277337.1  netrin receptor UNC5D isoform X14

  14. XM_047421382.1 → XP_047277338.1  netrin receptor UNC5D isoform X15

  15. XM_047421380.1 → XP_047277336.1  netrin receptor UNC5D isoform X12

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    35511078..36072635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359766.1 → XP_054215741.1  netrin receptor UNC5D isoform X1

  2. XM_054359767.1 → XP_054215742.1  netrin receptor UNC5D isoform X2

  3. XM_054359770.1 → XP_054215745.1  netrin receptor UNC5D isoform X5

  4. XM_054359768.1 → XP_054215743.1  netrin receptor UNC5D isoform X3

  5. XM_054359769.1 → XP_054215744.1  netrin receptor UNC5D isoform X4

  6. XM_054359771.1 → XP_054215746.1  netrin receptor UNC5D isoform X6

  7. XM_054359772.1 → XP_054215747.1  netrin receptor UNC5D isoform X7

  8. XM_054359773.1 → XP_054215748.1  netrin receptor UNC5D isoform X8

  9. XM_054359776.1 → XP_054215751.1  netrin receptor UNC5D isoform X11

  10. XM_054359778.1 → XP_054215753.1  netrin receptor UNC5D isoform X13

    UniProtKB/TrEMBL
    H7BXJ2

  11. XM_054359774.1 → XP_054215749.1  netrin receptor UNC5D isoform X9

  12. XM_054359775.1 → XP_054215750.1  netrin receptor UNC5D isoform X10

  13. XM_054359779.1 → XP_054215754.1  netrin receptor UNC5D isoform X14

  14. XM_054359780.1 → XP_054215755.1  netrin receptor UNC5D isoform X15

  15. XM_054359777.1 → XP_054215752.1  netrin receptor UNC5D isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXZ4.1 GenPept UniProtKB/Swiss-Prot:Q6UXZ4

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