Guca1a MGI Mouse Gene Detail - MGI:102770 - guanylate cyclase activator 1a (retina)

Symbol

Guca1a
Name

guanylate cyclase activator 1a (retina)
Synonyms

Guca1, mGCAP1

Feature Type

protein coding gene
IDs

MGI:102770
NCBI Gene: 14913
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:47705483-47711509 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 23.07 cM, cytoband D
Mapping Data

2 experiments

SNPs within 2kb

288 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102770	protein coding gene	Chr17:47705482-47724439 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023843	protein coding gene	Chr17:48536645-48542629 (-)
A/J	MGP_AJ_G0023801	protein coding gene	Chr17:47335044-47341050 (-)
AKR/J	MGP_AKRJ_G0023772	protein coding gene	Chr17:47714233-47720186 (-)
BALB/cJ	MGP_BALBcJ_G0023805	protein coding gene	Chr17:47249647-47255596 (-)
C3H/HeJ	MGP_C3HHeJ_G0023568	protein coding gene	Chr17:48463993-48469988 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024248	protein coding gene	Chr17:50602501-50608512 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021698	protein coding gene	Chr17:44090571-44097499 (-)
CAST/EiJ	no annotation
CBA/J	MGP_CBAJ_G0023545	protein coding gene	Chr17:52458083-52464084 (-)
DBA/2J	MGP_DBA2J_G0023671	protein coding gene	Chr17:46093778-46099884 (-)
FVB/NJ	MGP_FVBNJ_G0023638	protein coding gene	Chr17:45738685-45744638 (-)
LP/J	MGP_LPJ_G0023752	protein coding gene	Chr17:49215160-49221113 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023667	protein coding gene	Chr17:51935861-51941850 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024293	protein coding gene	Chr17:48077913-48083867 (-)
PWK/PhJ	MGP_PWKPhJ_G0022794	protein coding gene	Chr17:45453223-45459876 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022610	protein coding gene	Chr17:44976708-44982658 (-)
WSB/EiJ	MGP_WSBEiJ_G0023115	protein coding gene	Chr17:48656890-48663046 (-)

Human Ortholog

GUCA1A, guanylate cyclase activator 1A

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GUCA1A, guanylate cyclase activator 1A
Synonyms

C6orf131, COD3, CORD14, GCAP, GCAP-1, GCAP1, GCAP-I, GUCA, GUCA1
Links

HGNC:4678

NCBI Gene ID: 2978

neXtProt AC: NX_P43080

UniProt: P43080
Chr Location

6p21.1; chr6:42173364-42181338 (+) GRCh38

MGI Vertebrate Homology

Guca1a stringent orthology
1 human;1 mouse;1 rat;3 zebrafish
HCOP

vertebrate homology predictions: GUCA1A
Gene Tree

Guca1a

Diseases

1 with human GUCA1A associations

				Human Disease	Mouse Models
				cone-rod dystrophy 14 IDs cone-rod dystrophy 14 DOID:0080314 MESH:C566579 OMIM:602093 UMLS_CUI:C1838190 UMLS_CUI:C1865869

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

13 phenotypes from 5 alleles in 4 genetic backgrounds
2 phenotypes from multigenic genotypes
3 images
41 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

1
Targeted

5
Transgenic

2
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function.

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All GO Annotations

25
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

767
Tissues

43
cDNA Data

34
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase guca1a, guca1al

ZFIN guca1aa, guca1ab.1

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All Sequences

31
RefSeq

5
UniProt

1
CCDS

CCDS28848.1

Ensembl

ENSMUSG00000023982 (Evidence)
NCBI Gene

14913

			Length	Strain/Species	Flank
genomic	ENSMUSG00000023982	Ensembl Gene Model \| MGI Sequence Detail	6027	C57BL/6J	± kb
transcript	ENSMUST00000059348	Ensembl \| MGI Sequence Detail	873	Not Applicable
polypeptide	ENSMUSP00000060027	Ensembl \| MGI Sequence Detail	202	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008343 guanylyl cyclase-activating protein 1

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR028846 Recoverin family

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All nucleic 45

Genomic 6

cDNA 35

Primer pair 4

Microarray probesets 3

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MGD-MRK-19677

Summaries

All 80

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 41
Earliest

J:19567 Subbaraya I, et al., Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. J Biol Chem. 1994 Dec 9;269(49):31080-9
Latest

J:330334 Zhang H, et al., The RNA ligase RNA terminal phosphate cyclase B regulates mRNA alternative splicing and is required for mouse oocyte development and maintenance. Development. 2022 Oct 1;149(19):dev200497

TSS for Guca1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr148425	Chr17:47711541-47711544 (-)	-34 bp
Tssr148424	Chr17:47711510-47711524 (-)	-8 bp
Tssr148423	Chr17:47711474-47711496 (-)	24 bp
Tssr148422	Chr17:47706667-47706700 (-)	4,825 bp
Tssr148421	Chr17:47706609-47706650 (-)	4,879 bp
Tssr148420	Chr17:47706323-47706341 (-)	5,177 bp
Tssr148419	Chr17:47706305-47706316 (-)	5,198 bp
Tssr148418	Chr17:47706290-47706303 (-)	5,212 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24