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

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
Summary: Predicted to be involved in liver regeneration and response to cAMP. [provided by Alliance of Genome Resources, Dec 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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed

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

WI-20262 (e-PCR)
- UniSTS:2377

RH48891 (e-PCR)
- UniSTS:37199

D22S1247 (e-PCR)
- UniSTS:66393

RH121336 (e-PCR)
- UniSTS:138600

A006M41 (e-PCR)
- UniSTS:62680

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)

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
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
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
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
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
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 ...
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 ...
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

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

24540438..24555894 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...