U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 83606, updated on 4-Dec-2022

    Summary

    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
    Expression
    Ubiquitous expression in bone marrow (RPKM 29.5), duodenum (RPKM 28.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GUCD1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24540438..24555894, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25002044..25017501, complement)
    105.20220307 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 ADORA2A antisense RNA 1 Neighboring gene adenosine A2a receptor Neighboring gene beta-ureidopropionase 1 Neighboring gene uncharacterized LOC124905091 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene leucine rich repeat containing 75B Neighboring gene gamma-glutamyltransferase 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 

    General protein information

    Preferred Names
    protein GUCD1
    Names
    CG13760 gene product [Drosophila melanogaster] homolog
    guanylyl cyclase domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001284251.2NP_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/Swiss-Prot
      Q96NT3
      UniProtKB/TrEMBL
      A0A087WVD9
      Related
      ENSP00000479370.1, ENST00000621833.4
      Conserved Domains (1) summary
      pfam09778
      Location:78292
      Guanylate_cyc_2; Guanylylate cyclase
    2. NM_001284252.2NP_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:78291
      Guanylate_cyc_2; Guanylylate cyclase
    3. NM_001284253.2NP_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:78248
      Guanylate_cyc_2; Guanylylate cyclase
    4. NM_001284254.2NP_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/Swiss-Prot
      Q96NT3
      UniProtKB/TrEMBL
      A0A024R1B8
      Related
      ENSP00000405985.1, ENST00000435822.6
      Conserved Domains (1) summary
      pfam09778
      Location:22235
      Guanylate_cyc_2; Guanylylate cyclase
    5. NM_001284255.2NP_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/Swiss-Prot
      Q96NT3
      UniProtKB/TrEMBL
      B4DL90, Q7Z629
      Conserved Domains (1) summary
      pfam09778
      Location:22192
      Guanylate_cyc_2; Guanylylate cyclase
    6. NM_001284256.2NP_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/Swiss-Prot
      Q96NT3
      UniProtKB/TrEMBL
      E9PGZ7
      Related
      ENSP00000384378.1, ENST00000402766.5
      Conserved Domains (1) summary
      cl00296
      Location:22129
      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_001284257.2NP_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/Swiss-Prot
      Q96NT3
      UniProtKB/TrEMBL
      E7EX77
      Related
      ENSP00000387867.2, ENST00000447813.6
      Conserved Domains (1) summary
      cl00296
      Location:22128
      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_031444.4NP_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
      Q96NT3, Q9BU32
      Related
      ENSP00000386076.3, ENST00000407471.7
      Conserved Domains (1) summary
      pfam09778
      Location:22236
      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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_005261761.3XP_005261818.1  protein GUCD1 isoform X1

      Conserved Domains (1) summary
      cl00296
      Location:78185
      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)