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

Gene ID: 83606, updated on 21-Dec-2019

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
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

Genomic context

See GUCD1 in Genome Data Viewer
Location:
22q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24540423..24555935, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24936406..24951901, 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 small nuclear ribonucleoprotein D3 polypeptide Neighboring gene leucine rich repeat containing 75B Neighboring gene gamma-glutamyltransferase 1 Neighboring gene POM121 transmembrane nucleoporin like 10, pseudogene Neighboring gene BCR pseudogene 3

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA 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
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)

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_001284251.1NP_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, C75357
    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, ENST00000435822.5
    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
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    24540423..24555935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261761.2XP_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 ...
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