CD177 CD177 molecule [Homo sapiens] - Gene

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Summary

Official Symbol: CD177provided by HGNC
Official Full Name: CD177 moleculeprovided by HGNC
Primary source: HGNC:30072
Locus tag: UNQ595/PRO1181
See related: HPRD:01222; MIM:162860
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: NB1; PRV1; HNA2A; PRV-1; HNA-2a; NB1 GP
Summary: NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971 [PubMed 5552408]).[supplied by OMIM, Mar 2008]

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Genomic context

Location :: 19q13.2

Sequence :: Chromosome: 19; NC_000019.9 (43857825..43867480)

See CD177 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

pivotal role of the NB1-Mac-1 receptor interaction for PR3-ANCA-mediated neutrophil activation
Title: Complement receptor Mac-1 is an adaptor for NB1 (CD177)-mediated PR3-ANCA neutrophil activation.
The increased membrane expression of PR3 found in ANCA-associated systemic vasculitis is not linked directly to circulating PR3 or PR3 gene transcription, but is dependent upon CD177 expression and correlated with the transcription of the CD177 gene.
Title: Elevated neutrophil membrane expression of proteinase 3 is dependent upon CD177 expression.
heterophilic PECAM-1/CD177 interactions affect the phosphorylation state of PECAM-1 and endothelial cell junctional integrity in such a way as to facilitate neutrophil transmigration in a previously unrecognized allele-specific manner.
Title: Neutrophil transmigration mediated by the neutrophil-specific antigen CD177 is influenced by the endothelial S536N dimorphism of platelet endothelial cell adhesion molecule-1.
Testins for PRV-1 expression is useful in the diagnosis of essential thrombocythaemia, but not in the diagnosis of polycythaemia vera.
Title: JAK2 V617F mutation and PRV-1 overexpression: relevance in the diagnosis of polycythaemia vera and essential thrombocythaemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Molecular studies reveal that A134T, G156A and G1333A SNPs in the CD177 gene are associated with atypical expression of human neutrophil antigen-2.
elevated percentage of CD177 expressing neutrophils in patients with ANCA-associated vasculitis and systemic lupus erythematosus
Title: Membrane-bound proteinase 3 and its receptors: relevance for the pathogenesis of Wegener's Granulomatosis.
The NB1-bound PR3 was active and was cleared from the surface by alpha-1-protease inhibitor
Title: A hydrophobic patch on proteinase 3, the target of autoantibodies in Wegener granulomatosis, mediates membrane binding via NB1 receptors.
a novel function for Prv-1 as a signaling molecule in cytokine signaling cascades and may lead to a greater understanding of the mechanism of overexpression of Prv-1 in myeloproliferative disorders.
Title: Expression of the GPI-anchored receptor Prv-1 enhances thrombopoietin and IL-3-induced proliferation in hematopoietic cell lines.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Gene frequencies of human neutrophil antigens 4a and 5a in the korean population.
DNA methylation regulates PRV-1 expression under physiologic and pathologic conditions
Title: Epigenetic control of PRV-1 expression on neutrophils.

Submit: New GeneRIF Correction See all (27)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8N6Q3	Q01844	EWSR1	HPRD	PubMed
Q8N6Q3	Q9Y2W7	KCNIP3	HPRD	PubMed
Q8N6Q3	P04278	SHBG	HPRD	PubMed
BioGRID:121389	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:121389	BioGRID:119042	KCNIP3	BioGRID	PubMed	Two-hybrid

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
leukocyte migration	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
anchored to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: CD177 antigen

Names: CD177 antigen; NB1 glycoprotein; cell surface receptor; polycythemia rubra vera 1; human neutrophil alloantigen 2a; polycythemia rubra vera protein 1

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NCBI Reference Sequences (RefSeq)

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_020406.2 → NP_065139.2 CD177 antigen precursor

Status: VALIDATED

Source sequence(s)

AC005392, AF146747

UniProtKB/Swiss-Prot

Q8N6Q3

Conserved Domains (1) summary

cl10471
Location:133 – 208
Blast Score: 106

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

43857825..43867480

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

40287517..40297162

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005392.2 (201968..211623)	None
mRNA	AB237911.1	BAE93254.1
mRNA	AF146747.1	AAG00895.1
mRNA	AJ290452.1	CAC44459.1
mRNA	AJ305326.1	CAC83758.1
mRNA	AJ310433.1	CAC83724.1
mRNA	AK225226.1	None
mRNA	AK290965.1	BAF83654.1
mRNA	AM884905.1	CAP05216.1
mRNA	AY358932.1	AAQ89291.1
mRNA	BC029167.1	AAH29167.1
mRNA	BT020111.1	AAV38914.1
other-genetic	DQ892045.2	ABM82971.1
other-genetic	DQ895239.2	ABM86165.1