Cox4i1 MGI Mouse Gene Detail - MGI:88473 - cytochrome c oxidase subunit 4I1

Symbol

Cox4i1
Name

cytochrome c oxidase subunit 4I1
Synonyms

Cox4, Cox4a, COXIV

Feature Type

protein coding gene
IDs

MGI:88473
NCBI Gene: 12857
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr8:121394964-121400948 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 69.99 cM
Mapping Data

7 experiments

SNPs within 2kb

193 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88473	protein coding gene	Chr8:121394961-121400948 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034205	protein coding gene	Chr8:124108533-124114491 (+)
A/J	MGP_AJ_G0034185	protein coding gene	Chr8:118953375-118959310 (+)
AKR/J	MGP_AKRJ_G0034112	protein coding gene	Chr8:122414827-122420774 (+)
BALB/cJ	MGP_BALBcJ_G0034179	protein coding gene	Chr8:119167436-119173389 (+)
C3H/HeJ	MGP_C3HHeJ_G0033890	protein coding gene	Chr8:123150577-123156517 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034699	protein coding gene	Chr8:128235493-128241445 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031641	protein coding gene	Chr8:111829266-111835060 (+)
CAST/EiJ	MGP_CASTEiJ_G0033217	protein coding gene	Chr8:123146266-123152178 (+)
CBA/J	MGP_CBAJ_G0033863	protein coding gene	Chr8:132922103-132928137 (+)
DBA/2J	MGP_DBA2J_G0034019	protein coding gene	Chr8:118170700-118176663 (+)
FVB/NJ	MGP_FVBNJ_G0033962	protein coding gene	Chr8:117245215-117251149 (+)
LP/J	MGP_LPJ_G0034108	protein coding gene	Chr8:124227162-124233094 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034009	protein coding gene	Chr8:135284499-135290445 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034717	protein coding gene	Chr8:122585086-122591042 (+)
PWK/PhJ	MGP_PWKPhJ_G0032919	protein coding gene	Chr8:117955125-117961242 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032759	protein coding gene	Chr8:121289135-121295080 (+)
WSB/EiJ	MGP_WSBEiJ_G0033333	protein coding gene	Chr8:123324595-123330569 (+)

Human Ortholog

COX4I1, cytochrome c oxidase subunit 4I1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COX4I1, cytochrome c oxidase subunit 4I1
Synonyms

COX4, COX4-1, COXIV, COX IV-1, COXIV-1, MC4DN16
Links

HGNC:2265

NCBI Gene ID: 1327

neXtProt AC: NX_P13073

UniProt: P13073
Chr Location

16q24.1; chr16:85798633-85807068 (+) GRCh38

MGI Vertebrate Homology

Cox4i1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COX4I1
Gene Tree

Cox4i1

Diseases

1 with human COX4I1 associations

				Human Disease	Mouse Models
				mitochondrial complex IV deficiency nuclear type 16 IDs mitochondrial complex IV deficiency nuclear type 16 DOID:0070501 OMIM:619060 UMLS_CUI:C5436714

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
9 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

3
Gene trapped

1
Targeted

2
Incidental Mutations

Mutagenetix , CvDC
Find Mice (IMSR)

49 strains or lines available

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All GO Annotations

18
GO References

21

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

1010
Tissues

184
cDNA Data

576
Literature Summary

47

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cox4i1

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All Sequences

59
RefSeq

4
UniProt

4
CCDS

CCDS40498.1

Ensembl

ENSMUSG00000031818 (Evidence)
NCBI Gene

12857

			Length	Strain/Species	Flank
genomic	12857	NCBI Gene Model \| MGI Sequence Detail	5985	C57BL/6J	± kb
transcript	NM_009941	RefSeq \| MGI Sequence Detail	762	ZRU/MplStud
polypeptide	P19783	UniProt \| EBI \| MGI Sequence Detail	169	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000005776 cytochrome c oxidase subunit 4 isoform 1, mitochondrial

(term hierarchy)
PDB

7O37, 7O3C, 7O3E, 8PW5, 8PW6, 8PW7
InterPro Domains

IPR013288 Cytochrome c oxidase subunit IV

IPR004203 Cytochrome c oxidase subunit IV family

IPR036639 Cytochrome c oxidase subunit IV superfamily
GlyGen

P19783 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 590

Genomic 3

cDNA 578

Primer pair 8

Other 1

Microarray probesets 3

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MGD-MRK-2097, MGI:2142667

Summaries

All 113

Developmental Gene Expression 47

Gene Ontology 21

Phenotypes 9
Earliest

J:10828 Grossman LI, et al., Nucleotide sequence of a mouse cDNA for subunit IV of cytochrome c oxidase. Nucleic Acids Res. 1990 Nov 11;18(21):6454
Latest

J:355679 Vercellino I, et al., SCAF1 drives the compositional diversity of mammalian respirasomes. Nat Struct Mol Biol. 2024 Jul;31(7):1061-1071

TSS for Cox4i1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79781	Chr8:121395004-121395007 (+)	42 bp
Tssr79782	Chr8:121395020-121395038 (+)	65 bp
Tssr79783	Chr8:121395051-121395057 (+)	90 bp
Tssr79784	Chr8:121396036-121396060 (+)	1,084 bp
Tssr79785	Chr8:121399471-121399501 (+)	4,522 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