NCF1B neutrophil cytosolic factor 1B (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: NCF1Bprovided by HGNC
Official Full Name: neutrophil cytosolic factor 1B (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:32522
See related: Ensembl:ENSG00000290838 AllianceGenome:HGNC:32522
Gene type: pseudo
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCF-1B; SH3PXD1B
Summary: Predicted to enable superoxide-generating NADPH oxidase activator activity. Predicted to be involved in respiratory burst and superoxide anion generation. Predicted to be part of NADPH oxidase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bone marrow (RPKM 76.4), spleen (RPKM 37.7) and 9 other tissues See more
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Genomic context

Location:: 7q11.23

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73220639..73235945)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74420852..74436153)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (72634674..72649979)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

G54020 (e-PCR)
- UniSTS:109402

RH45388 (e-PCR)
- UniSTS:87700

Ncf1 (e-PCR), detects polymorphism
- UniSTS:228517

WI-6056 (e-PCR)
- UniSTS:1195

Other Names

putative SH3 and PX domain-containing protein 1B
putative neutrophil cytosol factor 1B

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables superoxide-generating NADPH oxidase activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in respiratory burst	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

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.