Thoc1 MGI Mouse Gene Detail - MGI:1919668

Symbol

Thoc1
Name

THO complex 1
Synonyms

3110002N20Rik, MGC:28284, NMP-84

Feature Type

protein coding gene
IDs

MGI:1919668
NCBI Gene: 225160
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr18:9958176-9995486 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 4.91 cM
Mapping Data

2 experiments

SNPs within 2kb

872 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919668	protein coding gene	Chr18:9957906-9995489 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024144	protein coding gene	Chr18:6881620-6924797 (+)
A/J	MGP_AJ_G0024106	protein coding gene	Chr18:6839454-6876626 (+)
AKR/J	MGP_AKRJ_G0024073	protein coding gene	Chr18:7008973-7046131 (+)
BALB/cJ	MGP_BALBcJ_G0024105	protein coding gene	Chr18:6816484-6854464 (+)
C3H/HeJ	MGP_C3HHeJ_G0023872	protein coding gene	Chr18:6898005-6937686 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024550	protein coding gene	Chr18:7297770-7338446 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021989	protein coding gene	Chr18:6380304-6417669 (+)
CAST/EiJ	MGP_CASTEiJ_G0023349	protein coding gene	Chr18:6814181-6853120 (+)
CBA/J	MGP_CBAJ_G0023844	protein coding gene	Chr18:7322837-7365893 (+)
DBA/2J	MGP_DBA2J_G0023973	protein coding gene	Chr18:6686841-6727027 (+)
FVB/NJ	MGP_FVBNJ_G0023938	protein coding gene	Chr18:6652929-6691011 (+)
LP/J	MGP_LPJ_G0024056	protein coding gene	Chr18:6976181-7026203 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023967	protein coding gene	Chr18:7514701-7556991 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024596	protein coding gene	Chr18:6832841-6872126 (+)
PWK/PhJ	MGP_PWKPhJ_G0023095	protein coding gene	Chr18:6728025-6756487 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022905	protein coding gene	Chr18:7131729-7178524 (+)
WSB/EiJ	MGP_WSBEiJ_G0023415	protein coding gene	Chr18:6827932-6866545 (+)

Human Ortholog

THOC1, THO complex subunit 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

THOC1, THO complex subunit 1
Synonyms

DFNA86, HPR1, P84, P84N5
Links

HGNC:19070

NCBI Gene ID: 9984

neXtProt AC: NX_Q96FV9

UniProt: Q96FV9
Chr Location

18p11.32; chr18:214520-268050 (-) GRCh38

MGI Vertebrate Homology

Thoc1 stringent orthology
1 human;1 mouse;2 rat;1 zebrafish
HCOP

vertebrate homology predictions: THOC1
Gene Tree

Thoc1

Diseases

1 with human THOC1 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness IDs autosomal dominant nonsyndromic deafness DOID:0050564 ICD10CM:H90.3 OMIM:PS124900 ORDO:90635

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

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Phenotype Summary

24 phenotypes from 4 alleles in 3 genetic backgrounds
20 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

20
Endonuclease-mediated

5
Gene trapped

8
Targeted

7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

46 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations in this gene result in embryonic lethality around implantation in homozygotes.

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All GO Annotations

24
GO References

9

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

718
Tissues

10
cDNA Data

13
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase thoc1

ZFIN thoc1

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All Sequences

71
RefSeq

14
UniProt

3
CCDS

CCDS37733.1

Ensembl

ENSMUSG00000024287 (Evidence)
NCBI Gene

225160

			Length	Strain/Species	Flank
genomic	225160	NCBI Gene Model \| MGI Sequence Detail	37311	C57BL/6J	± kb
transcript	NM_001417754	RefSeq \| MGI Sequence Detail	4036	C57BL/6
polypeptide	Q8R3N6	UniProt \| EBI \| MGI Sequence Detail	657	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000016310 THO complex subunit 1

(term hierarchy)
InterPro Domains

IPR000488 Death domain

IPR011029 Death-like domain superfamily

IPR021861 THO complex, subunit THOC1
GlyGen

Q8R3N6 1 site, 1 N-linked glycan (1 site)

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All nucleic 19

cDNA 18

Primer pair 1

Microarray probesets 6

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MGI:2147345

Summaries

All 54

Developmental Gene Expression 4

Gene Ontology 9

Phenotypes 20
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Thoc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr150018	Chr18:9957947-9957987 (+)	-209 bp
Tssr150019	Chr18:9958147-9958186 (+)	-9 bp
Tssr150020	Chr18:9958187-9958192 (+)	14 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