CYB5B cytochrome b5 type B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYB5Bprovided by HGNC
Official Full Name: cytochrome b5 type Bprovided by HGNC
Primary source: HGNC:HGNC:24374
See related: Ensembl:ENSG00000103018 MIM:611964; AllianceGenome:HGNC:24374
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OMB5; CYB5-M; CYPB5M
Summary: Enables heme binding activity. Contributes to nitrite reductase (NO-forming) activity. Involved in nitric oxide biosynthetic process. Located in membrane. Part of nitric-oxide synthase complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal (RPKM 70.4), colon (RPKM 17.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69424619..69466264)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (75226795..75268458)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69458522..69500167)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes.
Title: The involvement of mitochondrial amidoxime reducing components 1 and 2 and mitochondrial cytochrome b5 in N-reductive metabolism in human cells.
comparison of X-ray crystal structures of human and rat CYB5B reveals a striking difference in packing involving the five-strand beta-sheet, which can be attributed to fully buried residue 21 in strand beta4
Title: Accommodating a nonconservative internal mutation by water-mediated hydrogen bonding between β-sheet strands: a comparison of human and rat type B (mitochondrial) cytochrome b5.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The 21 kDa protein overexpressed in Hodgkin Lymphoma and aggressive non-Hodgkin Lymphomas is identical to CYB5B.
Title: Constitutively overexpressed 21 kDa protein in Hodgkin lymphoma and aggressive non-Hodgkin lymphomas identified as cytochrome B5b (CYB5B).
could be involved in the differential modulation of 17 alpha-hydroxylase and 17,20-lyase activities of P450c17 [type2 cyt-b5]
Title: Assessment of the ability of type 2 cytochrome b5 to modulate 17,20-lyase activity of human P450c17.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein cytochrome b5 type B (CYB5B) in cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69654 (e-PCR)
- UniSTS:22029

RH79817 (e-PCR)
- UniSTS:90176

RH69883 (e-PCR)
- UniSTS:83305

RH65268 (e-PCR)
- UniSTS:83841

G09709 (e-PCR)
- UniSTS:67464

G32813 (e-PCR)
- UniSTS:117392

SGC33587 (e-PCR)
- UniSTS:62415

RH70407 (e-PCR)
- UniSTS:23787

A009S26 (e-PCR)
- UniSTS:34805

RH99236 (e-PCR)
- UniSTS:83960

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
contributes_to nitrite reductase (NO-forming) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenobiotic metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
part_of nitric-oxide synthase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome b5 type B

Names: cytochrome b5 type B (outer mitochondrial membrane); outer mitochondrial membrane cytochrome b5; type 2 cyt-b5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_030579.3 → NP_085056.2 cytochrome b5 type B

See identical proteins and their annotated locations for NP_085056.2

Status: VALIDATED

Source sequence(s)

AC009032, AC026464

Consensus CDS

CCDS10880.2

UniProtKB/Swiss-Prot

A8K6B1, J3KNF8, O43169, Q96CC3, Q9BT35

UniProtKB/TrEMBL

H3BUX2

Related

ENSP00000308430.8, ENST00000307892.13

Conserved Domains (2) summary

cl00200
Location:123 → 148

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

pfam00173
Location:28 → 100

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain