Gipc1 MGI Mouse Gene Detail - MGI:1926252 - GIPC PDZ domain containing family, member 1

Symbol

Gipc1
Name

GIPC PDZ domain containing family, member 1
Synonyms

Glut1CIP, neurophilin1-IP, Rgs19ip1, Semcap1, synectin, TaxIP2, TIP-2

Feature Type

protein coding gene
IDs

MGI:1926252
NCBI Gene: 67903
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr8:84379306-84391323 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 40.22 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

317 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926252	protein coding gene	Chr8:84376037-84391418 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033836	protein coding gene	Chr8:84490607-84504300 (+)
A/J	MGP_AJ_G0033819	protein coding gene	Chr8:81192703-81204769 (+)
AKR/J	MGP_AKRJ_G0033745	protein coding gene	Chr8:83582122-83594198 (+)
BALB/cJ	MGP_BALBcJ_G0033812	protein coding gene	Chr8:81289258-81301617 (+)
C3H/HeJ	MGP_C3HHeJ_G0033522	protein coding gene	Chr8:84206323-84218455 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034332	protein coding gene	Chr8:87713520-87727090 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031274	protein coding gene	Chr8:74974706-74987040 (+)
CAST/EiJ	MGP_CASTEiJ_G0032852	protein coding gene	Chr8:83601348-83617405 (+)
CBA/J	MGP_CBAJ_G0033500	protein coding gene	Chr8:90862862-90874933 (+)
DBA/2J	MGP_DBA2J_G0033653	protein coding gene	Chr8:80830456-80842516 (+)
FVB/NJ	MGP_FVBNJ_G0033599	protein coding gene	Chr8:79741996-79754928 (+)
LP/J	MGP_LPJ_G0033743	protein coding gene	Chr8:84599611-84611551 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033641	protein coding gene	Chr8:93358438-93373245 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034349	protein coding gene	Chr8:83558441-83570957 (+)
PWK/PhJ	MGP_PWKPhJ_G0032556	protein coding gene	Chr8:80043514-80056113 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032393	protein coding gene	Chr8:82356969-82371955 (+)
WSB/EiJ	MGP_WSBEiJ_G0032965	protein coding gene	Chr8:83961439-83975426 (+)

Human Ortholog

GIPC1, GIPC PDZ domain containing family member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GIPC1, GIPC PDZ domain containing family member 1
Synonyms

C19orf3, GIPC, GLUT1CBP, Hs.6454, IIP-1, NIP, OPDM2, RGS19IP1, SEMCAP, SYNECTIIN, SYNECTIN, TIP-2
Links

HGNC:1226

NCBI Gene ID: 10755

neXtProt AC: NX_O14908

UniProt: O14908
Chr Location

19p13.12; chr19:14477760-14496149 (-) GRCh38

MGI Vertebrate Homology

Gipc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GIPC1
Protein SuperFamily

UCP038083_GIPC
Gene Tree

Gipc1

Diseases

1 with human GIPC1 associations

				Human Disease	Mouse Models
				oculopharyngodistal myopathy 2 IDs oculopharyngodistal myopathy 2 DOID:0081298 OMIM:618940

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

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Phenotype Summary

16 phenotypes from 3 alleles in 5 genetic backgrounds
54 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

50
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

41
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Gipc1
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trapped allele display reduced body and heart weight, selective arteriogenesis and arterial endothelial cell defects, and impaired cardiac performance and wound healing. Mice homozygous for a knock-out allele exhibit low molecular weight proteinuria.

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All GO Annotations

57
GO References

16

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

798
Tissues

72
cDNA Data

62
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gipc1

ZFIN gipc1

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All Sequences

54
RefSeq

4
UniProt

3
CCDS

CCDS22457.1

Ensembl

ENSMUSG00000019433 (Evidence)
NCBI Gene

67903

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019433	Ensembl Gene Model \| MGI Sequence Detail	12018	C57BL/6J	± kb
transcript	ENSMUST00000019577	Ensembl \| MGI Sequence Detail	1522	Not Applicable
polypeptide	ENSMUSP00000019577	Ensembl \| MGI Sequence Detail	333	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007987 PDZ domain-containing protein GIPC1

(term hierarchy)
PDB

5V6B, 5V6E, 5V6T, 7NRN
InterPro Domains

IPR001478 PDZ domain

IPR017379 PDZ domain-containing protein GIPC1/2/3

IPR036034 PDZ superfamily

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All nucleic 65

cDNA 63

Other 2

Microarray probesets 5

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MGI:1861792

Summaries

All 96

Developmental Gene Expression 6

Gene Ontology 16

Phenotypes 54
Earliest

J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
Latest

J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12

TSS for Gipc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr78275	Chr8:84379261-84379262 (+)	-44 bp
Tssr78276	Chr8:84379280-84379296 (+)	-18 bp
Tssr78277	Chr8:84379299-84379340 (+)	14 bp
Tssr78278	Chr8:84384185-84384193 (+)	4,883 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