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    GUCD1 guanylyl cyclase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 83606, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GUCD1provided by HGNC
    Official Full Name
    guanylyl cyclase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:14237
    See related
    Ensembl:ENSG00000138867 MIM:619171; AllianceGenome:HGNC:14237
    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
    LLN4; C22orf13
    Summary
    Predicted to be involved in liver regeneration and response to cAMP. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 29.5), duodenum (RPKM 28.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GUCD1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24540438..24555894, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25002044..25017501, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24936406..24951862, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SPECC1L-ADORA2A readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24825428-24826389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24829365-24829914 Neighboring gene ADORA2A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24831043-24831543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13551 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24840685-24840876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13552 Neighboring gene adenosine A2a receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18773 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24875502-24875689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24901494-24902032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24902033-24902569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18776 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24905414-24905687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18778 Neighboring gene beta-ureidopropionase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene uncharacterized LOC124905091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980432-24980932 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980933-24981433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24987467-24988460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24988461-24989453 Neighboring gene leucine rich repeat containing 75B Neighboring gene gamma-glutamyltransferase 1

    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. MicroRNA-370 Regulates Cellepithelial-Mesenchymal Transition, Migration, Invasion, and Prognosis of Hepatocellular Carcinoma by Targeting GUCD1. He Y, et al. Yonsei Med J, 2019 Mar. PMID 30799589, Free PMC Article
    2. NEDD4 controls the expression of GUCD1, a protein upregulated in proliferating liver cells. Bellet MM, et al. Cell Cycle, 2014. PMID 24743017, Free PMC Article
    3. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-370 suppressed Hepatocellular carcinoma cell metastasis and epithelial-mesenchymal transition via regulating GUCD1.
      Title: MicroRNA-370 Regulates Cellepithelial-Mesenchymal Transition, Migration, Invasion, and Prognosis of Hepatocellular Carcinoma by Targeting GUCD1.
    2. The expression and function of a ubiquitous protein, GUCD1, were characterized, it might have a role in regulating normal and abnormal cell growth in the liver.
      Title: NEDD4 controls the expression of GUCD1, a protein upregulated in proliferating liver cells.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    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

    • MGC1842

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein GUCD1
    Names
    CG13760 gene product [Drosophila melanogaster] homolog
    guanylyl cyclase domain-containing protein 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.

    mRNA and Protein(s)

    1. NM_001284251.2 → NP_001271180.1  protein GUCD1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK025242, AK098754, BC002924
      Consensus CDS
      CCDS74833.1
      UniProtKB/TrEMBL
      A0A087WVD9
      Related
      ENSP00000479370.1, ENST00000621833.4
      Conserved Domains (1) summary
      pfam09778
      Location:78 → 292
      Guanylate_cyc_2; Guanylylate cyclase

    2. NM_001284252.2 → NP_001271181.1  protein GUCD1 isoform b

      See identical proteins and their annotated locations for NP_001271181.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      AK025242, AK098754
      Consensus CDS
      CCDS63427.1
      UniProtKB/Swiss-Prot
      Q96NT3
      Related
      ENSP00000384121.3, ENST00000404664.7
      Conserved Domains (1) summary
      pfam09778
      Location:78 → 291
      Guanylate_cyc_2; Guanylylate cyclase

    3. NM_001284253.2 → NP_001271182.1  protein GUCD1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AK025242, AK098754, DA033557
      Conserved Domains (1) summary
      pfam09778
      Location:78 → 248
      Guanylate_cyc_2; Guanylylate cyclase

    4. NM_001284254.2 → NP_001271183.1  protein GUCD1 isoform e

      See identical proteins and their annotated locations for NP_001271183.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK025242, BC041568, BC070109, DA776135, DA937738
      Consensus CDS
      CCDS63426.1
      UniProtKB/TrEMBL
      Q7Z629
      Related
      ENSP00000405985.1, ENST00000435822.6
      Conserved Domains (1) summary
      pfam09778
      Location:22 → 235
      Guanylate_cyc_2; Guanylylate cyclase

    5. NM_001284255.2 → NP_001271184.1  protein GUCD1 isoform f

      See identical proteins and their annotated locations for NP_001271184.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK025242, BC041568, BC053529, DA776135, DA937738
      UniProtKB/TrEMBL
      B4DL90, Q7Z629
      Conserved Domains (1) summary
      pfam09778
      Location:22 → 192
      Guanylate_cyc_2; Guanylylate cyclase

    6. NM_001284256.2 → NP_001271185.1  protein GUCD1 isoform g

      See identical proteins and their annotated locations for NP_001271185.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (g) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK025242, AK098754, BQ893876, DA776135
      Consensus CDS
      CCDS74832.1
      UniProtKB/TrEMBL
      B5MCF3, E9PGZ7
      Related
      ENSP00000384378.1, ENST00000402766.5
      Conserved Domains (1) summary
      cl00296
      Location:22 → 129
      Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

    7. NM_001284257.2 → NP_001271186.1  protein GUCD1 isoform h

      See identical proteins and their annotated locations for NP_001271186.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it lacks an alternate exon and uses an alternate splice site that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (h) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK025242, AK098754, BU153022, DA776135
      Consensus CDS
      CCDS74831.1
      UniProtKB/TrEMBL
      B5MCF3, E7EX77
      Related
      ENSP00000387867.2, ENST00000447813.6
      Conserved Domains (1) summary
      cl00296
      Location:22 → 128
      Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

    8. NM_031444.4 → NP_113632.2  protein GUCD1 isoform d

      See identical proteins and their annotated locations for NP_113632.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK025242, BC041568, BX346077, DA776135, DA937738
      Consensus CDS
      CCDS33621.1
      UniProtKB/Swiss-Prot
      B5MCB8, B5MCL7, Q96NT3, Q96Q79, Q9BU32
      UniProtKB/TrEMBL
      Q7Z629
      Related
      ENSP00000386076.3, ENST00000407471.7
      Conserved Domains (1) summary
      pfam09778
      Location:22 → 236
      Guanylate_cyc_2; Guanylylate cyclase

    RNA

    1. NR_104286.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) contains an alternate 5' terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK025242, AK098754, HY059446

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24540438..24555894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261761.3 → XP_005261818.1  protein GUCD1 isoform X1

      Conserved Domains (1) summary
      cl00296
      Location:78 → 185
      Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25002044..25017501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325998.1 → XP_054181973.1  protein GUCD1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NT3.2 GenPept UniProtKB/Swiss-Prot:Q96NT3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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