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

    Gene ID: 137970, updated on 27-Aug-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
    mouse all
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    Genomic context

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    Location:
    8p12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (35235475..35796540)
    RS_2024_08 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 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)

    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, C9J2B6
      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_2024_08

    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

      UniProtKB/TrEMBL
      C9J2B6

    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

      UniProtKB/TrEMBL
      C9J2B6

    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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

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

      UniProtKB/TrEMBL
      C9J2B6

    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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6, H7BXJ2

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

      UniProtKB/TrEMBL
      C9J2B6

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

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

      UniProtKB/TrEMBL
      C9J2B6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXZ4.1 GenPept UniProtKB/Swiss-Prot:Q6UXZ4

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