Popdc1 MGI Mouse Gene Detail - MGI:1346013 - popeye domain cAMP effector 1

Symbol

Popdc1
Name

popeye domain cAMP effector 1
Synonyms

Bves, popeye 1

Feature Type

protein coding gene
IDs

MGI:1346013
NCBI Gene: 23828
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr10:45211868-45248575 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 23.47 cM
Mapping Data

5 experiments

SNPs within 2kb

1250 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346013	protein coding gene	Chr10:45211783-45248580 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017208	protein coding gene	Chr10:44234725-44271312 (+)
A/J	MGP_AJ_G0017184	protein coding gene	Chr10:42983211-43018191 (+)
AKR/J	MGP_AKRJ_G0017143	protein coding gene	Chr10:43667433-43708049 (+)
BALB/cJ	MGP_BALBcJ_G0017145	protein coding gene	Chr10:43032947-43074100 (+)
C3H/HeJ	MGP_C3HHeJ_G0016969	protein coding gene	Chr10:43978178-44015409 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017603	protein coding gene	Chr10:45581694-45620661 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015298	protein coding gene	Chr10:40873709-40906248 (+)
CAST/EiJ	MGP_CASTEiJ_G0016543	protein coding gene	Chr10:44252530-44287233 (+)
CBA/J	MGP_CBAJ_G0016940	protein coding gene	Chr10:47613688-47654970 (+)
DBA/2J	MGP_DBA2J_G0017045	protein coding gene	Chr10:42396298-42430782 (+)
FVB/NJ	MGP_FVBNJ_G0017039	protein coding gene	Chr10:41900028-41933697 (+)
LP/J	MGP_LPJ_G0017120	protein coding gene	Chr10:44263780-44298620 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017068	protein coding gene	Chr10:48271937-48309205 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017639	protein coding gene	Chr10:43666325-43704928 (+)
PWK/PhJ	MGP_PWKPhJ_G0016322	protein coding gene	Chr10:42375349-42411617 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016107	protein coding gene	Chr10:43465735-43509110 (+)
WSB/EiJ	MGP_WSBEiJ_G0016606	protein coding gene	Chr10:43908709-43946154 (+)

Human Ortholog

POPDC1, popeye domain cAMP effector 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

POPDC1, popeye domain cAMP effector 1
Synonyms

BVES, CARICK, HBVES, LGMD2X, LGMDR25, POP1
Links

HGNC:1152

NCBI Gene ID: 11149

neXtProt AC: NX_Q8NE79

UniProt: Q8NE79
Chr Location

6q21; chr6:105096822-105137157 (-) GRCh38

MGI Vertebrate Homology

Popdc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: POPDC1
Gene Tree

Popdc1

Diseases

1 with human POPDC1 associations

				Human Disease	Mouse Models
				autosomal recessive limb-girdle muscular dystrophy type 2X IDs autosomal recessive limb-girdle muscular dystrophy type 2X DOID:0110290 OMIM:616812 ORDO:476084

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

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
22 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

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Popdc1
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node.

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All GO Annotations

47
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

859
Tissues

68
cDNA Data

22
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 popdc1

ZFIN popdc1

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All Sequences

48
RefSeq

12
UniProt

1
CCDS

CCDS23828.1

Ensembl

ENSMUSG00000071317 (Evidence)
NCBI Gene

23828

			Length	Strain/Species	Flank
genomic	ENSMUSG00000071317	Ensembl Gene Model \| MGI Sequence Detail	36708	C57BL/6J	± kb
transcript	ENSMUST00000095715	Ensembl \| MGI Sequence Detail	4368	Not Applicable
polypeptide	ENSMUSP00000093382	Ensembl \| MGI Sequence Detail	358	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000004859 blood vessel epicardial substance

(term hierarchy)
InterPro Domains

IPR018490 Cyclic nucleotide-binding domain superfamily

IPR006916 Popeye protein
GlyGen

Q9ES83 3 sites, 1 O-linked glycan (1 site)

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All nucleic 25

cDNA 22

Primer pair 2

Other 1

Microarray probesets 4

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MGI:7767927

Summaries

All 57

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 22
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Popdc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93188	Chr10:45211819-45211840 (+)	-38 bp
Tssr93189	Chr10:45211847-45211885 (+)	-2 bp
Tssr93190	Chr10:45211982-45211993 (+)	120 bp
Tssr93191	Chr10:45212001-45212023 (+)	144 bp
Tssr93192	Chr10:45212400-45212404 (+)	534 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 12/10/2024 MGI 6.24