Cyb5a MGI Mouse Gene Detail - MGI:1926952 - cytochrome b5 type A (microsomal)

Symbol

Cyb5a
Name

cytochrome b5 type A (microsomal)
Synonyms

0610009N12Rik, Cyb5

Feature Type

protein coding gene
IDs

MGI:1926952
NCBI Gene: 109672
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr18:84869463-84897996 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 57.53 cM
Mapping Data

4 experiments

SNPs within 2kb

974 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926952	protein coding gene	Chr18:84856829-84897996 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024610	protein coding gene	Chr18:86014525-86048021 (+)
A/J	MGP_AJ_G0024577	protein coding gene	Chr18:82243901-82275858 (+)
AKR/J	MGP_AKRJ_G0024548	protein coding gene	Chr18:84698087-84726930 (+)
BALB/cJ	MGP_BALBcJ_G0024575	protein coding gene	Chr18:82436273-82465635 (+)
C3H/HeJ	MGP_C3HHeJ_G0024344	protein coding gene	Chr18:84798443-84830493 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025022	protein coding gene	Chr18:88174267-88204848 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022453	protein coding gene	Chr18:80931924-80963481 (+)
CAST/EiJ	MGP_CASTEiJ_G0023817	protein coding gene	Chr18:85188808-85219034 (+)
CBA/J	MGP_CBAJ_G0024314	protein coding gene	Chr18:91347083-91378204 (+)
DBA/2J	MGP_DBA2J_G0024443	protein coding gene	Chr18:81763722-81793401 (+)
FVB/NJ	MGP_FVBNJ_G0024410	protein coding gene	Chr18:81101501-81132307 (+)
LP/J	MGP_LPJ_G0024528	protein coding gene	Chr18:85820739-85853699 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024440	protein coding gene	Chr18:92604665-92634493 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025071	protein coding gene	Chr18:84904245-84936720 (+)
PWK/PhJ	MGP_PWKPhJ_G0023562	protein coding gene	Chr18:82180467-82210449 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023368	protein coding gene	Chr18:84931763-84960122 (+)
WSB/EiJ	MGP_WSBEiJ_G0023879	protein coding gene	Chr18:84866523-84896551 (+)

Human Ortholog

CYB5A, cytochrome b5 type A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CYB5A, cytochrome b5 type A
Synonyms

CYB5, MCB5, METAG
Links

HGNC:2570

NCBI Gene ID: 1528

neXtProt AC: NX_P00167

UniProt: P00167
Chr Location

18q22.3; chr18:74250846-74291973 (-) GRCh38

MGI Vertebrate Homology

Cyb5a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CYB5A
Gene Tree

Cyb5a

Diseases

2 with human CYB5A associations

				Human Disease	Mouse Models
				methemoglobinemia IDs methemoglobinemia DOID:10783 ICD10CM:D74 ICD9CM:289.7 MESH:D008708 NCI:C34817 UMLS_CUI:C0025637
				methemoglobinemia and ambiguous genitalia IDs methemoglobinemia and ambiguous genitalia DOID:0112316 OMIM:250790

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
10 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

18
Endonuclease-mediated

2
Gene trapped

12
Targeted

3
Transposon induced

1
Genomic Mutations

1 involving Cyb5a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

20 strains or lines available

Mice homozygous for a conditional allele exhibit abnormal pharmacokinetics of xenobiotics following cre-mediated recombination.

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All GO Annotations

19
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

709
Tissues

3
cDNA Data

186
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cyb5a

ZFIN cyb5a

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All Sequences

50
RefSeq

4
UniProt

5
CCDS

CCDS29385.1, CCDS89294.1

Ensembl

ENSMUSG00000024646 (Evidence)
NCBI Gene

109672

			Length	Strain/Species	Flank
genomic	109672	NCBI Gene Model \| MGI Sequence Detail	28534	C57BL/6J	± kb
transcript	NM_001348159	RefSeq \| MGI Sequence Detail	852	ZRU/MplStud
polypeptide	P56395	UniProt \| EBI \| MGI Sequence Detail	134	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000006078 cytochrome b5

(term hierarchy)
InterPro Domains

IPR050668 Cytochrome b5

IPR018506 Cytochrome b5, heme-binding site

IPR001199 Cytochrome b5-like heme/steroid binding domain

IPR036400 Cytochrome b5-like heme/steroid binding domain superfamily
GlyGen

P56395 1 site, 1 O-linked glycan (1 site)

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All nucleic 187

cDNA 186

Primer pair 1

Microarray probesets 3

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MGI:1914096

Summaries

All 47

Developmental Gene Expression 1

Gene Ontology 11

Phenotypes 10
Earliest

J:65999 Hanlon MR, et al., In vitro membrane-inserted conformation of the cytochrome b5 tail. Biochem J. 2000 Nov 15;352 Pt 1:117-24
Latest

J:278382 Chino H, et al., Intrinsically Disordered Protein TEX264 Mediates ER-phagy. Mol Cell. 2019 Jun 6;74(5):909-921.e6

TSS for Cyb5a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152219	Chr18:84869456-84869473 (+)	2 bp
Tssr152220	Chr18:84869477-84869501 (+)	26 bp
Tssr152221	Chr18:84869503-84869525 (+)	51 bp
Tssr152222	Chr18:84869532-84869554 (+)	80 bp
Tssr152223	Chr18:84869883-84869932 (+)	445 bp
Tssr152224	Chr18:84877548-84877559 (+)	8,091 bp
Tssr152225	Chr18:84889688-84889701 (+)	20,232 bp
Tssr152226	Chr18:84890054-84890059 (+)	20,594 bp
Tssr152227	Chr18:84895939-84895958 (+)	26,486 bp
Tssr152228	Chr18:84897715-84897731 (+)	28,260 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)
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