Mctp1 MGI Mouse Gene Detail - MGI:1926021 - multiple C2 domains, transmembrane 1

Symbol

Mctp1
Name

multiple C2 domains, transmembrane 1
Synonyms

2810465F10Rik

Feature Type

protein coding gene
IDs

MGI:1926021
NCBI Gene: 78771
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr13:76384535-77031810 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 40.98 cM
Mapping Data

1 experiment

SNPs within 2kb

5850 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926021	protein coding gene	Chr13:76382362-77033277 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020779	protein coding gene	Chr13:76938688-77595053 (+)
A/J	MGP_AJ_G0020735	protein coding gene	Chr13:74313198-74950315 (+)
AKR/J	MGP_AKRJ_G0020708	protein coding gene	Chr13:76568406-77217444 (+)
BALB/cJ	MGP_BALBcJ_G0020731	protein coding gene	Chr13:74806898-75437963 (+)
C3H/HeJ	MGP_C3HHeJ_G0020525	protein coding gene	Chr13:76288690-76934360 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021168	protein coding gene	Chr13:79512384-80185207 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018736	protein coding gene	Chr13:71100834-71694913 (+)
CAST/EiJ	MGP_CASTEiJ_G0020043	protein coding gene	Chr13:75360929-76017532 (+)
CBA/J	MGP_CBAJ_G0020484	protein coding gene	Chr13:82541962-83225164 (+)
DBA/2J	MGP_DBA2J_G0020609	protein coding gene	Chr13:74018663-74652177 (+)
FVB/NJ	MGP_FVBNJ_G0020589	protein coding gene	Chr13:73074029-73724780 (+)
LP/J	MGP_LPJ_G0020682	protein coding gene	Chr13:77202758-77858261 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020618	protein coding gene	Chr13:80938892-81665402 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021208	protein coding gene	Chr13:75882863-76522803 (+)
PWK/PhJ	MGP_PWKPhJ_G0019796	protein coding gene	Chr13:72938943-73562649 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019619	protein coding gene	Chr13:72269827-72921134 (+)
WSB/EiJ	MGP_WSBEiJ_G0020100	protein coding gene	Chr13:76398997-77052610 (+)

Human Ortholog

MCTP1, multiple C2 and transmembrane domain containing 1

Vertebrate Orthologs

10

Human Ortholog

MCTP1, multiple C2 and transmembrane domain containing 1
Orthology source: HomoloGene, HGNC
Links

HGNC:26183

NCBI Gene ID: 79772

neXtProt AC: NX_Q6DN14

UniProt: Q6DN14
Chr Location

5q15; chr5:94703690-95284575 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 75211
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: MCTP1
Gene Tree

Mctp1

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Phenotype Summary

15 phenotypes from 2 alleles in 2 genetic backgrounds
9 phenotypes from multigenic genotypes
5 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Chemically induced (other)

1
Endonuclease-mediated

1
Spontaneous

1
Genomic Mutations

1 involving Mctp1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice have normal hearing and inner ear structures. Mice homozygous for a spontaneous deletion that encompasses a cis-regulatory region crucial for Nr2f1 expression show circling, fused saccule and utricle, hearing loss, inner ear dysmorphology and disorganized cochlear hair cells.

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All GO Annotations

18
GO References

4

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

635
Tissues

2
cDNA Data

8
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mctp1

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Mctp1 interacts with 318 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

75
RefSeq

28
UniProt

8
CCDS

CCDS26656.1

Ensembl

ENSMUSG00000021596 (Evidence)
NCBI Gene

78771

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021596	Ensembl Gene Model \| MGI Sequence Detail	647276	C57BL/6J	± kb
transcript	ENSMUST00000125209	Ensembl \| MGI Sequence Detail	4715	Not Applicable
polypeptide	ENSMUSP00000118958	Ensembl \| MGI Sequence Detail	951	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000029623 multiple C2 and transmembrane domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR013583 Phosphoribosyltransferase C-terminal

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All nucleic 10

cDNA 8

Primer pair 2

Microarray probesets 2

Summaries

All 26

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 5
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:264553 Tarchini B, et al., A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development. Dev Biol. 2018 Nov 15;443(2):153-164

TSS for Mctp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120426	Chr13:76384078-76384089 (+)	-451 bp
Tssr120427	Chr13:76384133-76384150 (+)	-393 bp
Tssr120428	Chr13:76384196-76384209 (+)	-332 bp
Tssr120429	Chr13:76384353-76384392 (+)	-162 bp
Tssr120436	Chr13:76579670-76579678 (+)	195,139 bp
Tssr120437	Chr13:76579681-76579686 (+)	195,149 bp
Tssr120439	Chr13:76825198-76825208 (+)	440,668 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 & Copyright Notice Send questions and comments to User Support.	last database update 06/30/2020 MGI 6.15