CD59 CD59 molecule (CD59 blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD59provided by HGNC
Official Full Name: CD59 molecule (CD59 blood group)provided by HGNC
Primary source: HGNC:HGNC:1689
See related: Ensembl:ENSG00000085063 MIM:107271; AllianceGenome:HGNC:1689
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 1F5; EJ16; EJ30; EL32; G344; MIN1; MIN2; MIN3; MIRL; HRF20; MACIF; MEM43; MIC11; MSK21; 16.3A5; HRF-20; MAC-IP; p18-20
Summary: This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in gall bladder (RPKM 62.1), lung (RPKM 52.8) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 11p13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (33703010..33736479, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (33840023..33873492, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (33724556..33758025, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The bioinformatics analysis of CD59 in Helicobacter pylori infected gastric cancer.
Title: The bioinformatics analysis of CD59 in Helicobacter pylori infected gastric cancer.
Multiple CD59 Polymorphisms in Chinese Patients with Mycobacterium tuberculosis Infection.
Title: Multiple CD59 Polymorphisms in Chinese Patients with Mycobacterium tuberculosis Infection.
CD59 Expression in Skeletal Muscles and Its Role in Myasthenia Gravis.
Title: CD59 Expression in Skeletal Muscles and Its Role in Myasthenia Gravis.
The utility of first trimester plasma glycated CD59 (pGCD59) in predicting gestational diabetes mellitus: A prospective study of non-diabetic pregnant women in Ireland.
Title: The utility of first trimester plasma glycated CD59 (pGCD59) in predicting gestational diabetes mellitus: A prospective study of non-diabetic pregnant women in Ireland.
Alternative splicing encodes functional intracellular CD59 isoforms that mediate insulin secretion and are down-regulated in diabetic islets.
Title: Alternative splicing encodes functional intracellular CD59 isoforms that mediate insulin secretion and are down-regulated in diabetic islets.
Plasma-glycated CD59 as an early biomarker for gestational diabetes mellitus: prospective cohort study protocol.
Title: Plasma-glycated CD59 as an early biomarker for gestational diabetes mellitus: prospective cohort study protocol.
Serum CD59: a novel biomarker of idiopathic pulmonary fibrosis?
Title: Serum CD59: a novel biomarker of idiopathic pulmonary fibrosis?
The value of p16 and HPV DNA in non-tonsillar, non-base of tongue oropharyngeal cancer.
Title: The value of p16 and HPV DNA in non-tonsillar, non-base of tongue oropharyngeal cancer.
Plasma glycated CD59 predicts postpartum glucose intolerance after gestational diabetes.
Title: Plasma glycated CD59 predicts postpartum glucose intolerance after gestational diabetes.
The expression of membrane-bound complement regulatory proteins CD46, CD55 and CD59 in oral lichen planus.
Title: The expression of membrane-bound complement regulatory proteins CD46, CD55 and CD59 in oral lichen planus.

Submit: New GeneRIF Correction See all GeneRIFs (135)

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

Associated conditions

Description	Tests
Primary CD59 deficiency MedGen: C2676767 OMIM: 612300 GeneReviews: Not available	Compare labs

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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Replication interactions

Interaction	Pubs
HIV-1 replication requires CD59 as cells lacking CD59 did not support efficient viral replication	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Env (gp120) co-localizes with human CD59 in lipid rafts on the surface of Jurkat cells	PubMed
	env	HIV-1 gp120 co-localizes with human CD59 in lipid rafts on the surface of ACH-2 cells upon provirus activation	PubMed
	env	The complement regulatory proteins CD55 (DAF) and CD59 (HRF20) exist on HIV-1 virions, along with HIV-1 gp120 molecules, suggesting an interaction between these proteins and gp120	PubMed
	env	HIV-1 gp120 induces CD4 association with lymphocyte surface molecules CD3, CD11a, CD27, CD45RA, CD45RB, CD45RO, CD49d, CD38, CD26, CD59, CD95 and class I MHC molecules	PubMed
	env	Treatment of CD4+ T cells with HIV-1 gp120 significantly increases CD4 association with CD3, CD45RA, CD45RB, CD59, CD38, CD26 and HLA class I, and decreases that with CD45RC	PubMed
Envelope transmembrane glycoprotein gp41	env	A peptide corresponding to the amino acids 598-613 of HIV-1 gp41, as well as recombinant gp41 protein, markedly reduce CD59 levels in a dose dependent manner in human neuronal and glial cells	PubMed
Nef	nef	HIV-1 Nef induces release of CD59 (MAL-dependent exosome marker) from Jurkat T cells transfected with DNA constructs coding for Nef-GFP	PubMed
Pr55(Gag)	gag	HIV-1 Gag P99A mutation reduces its co-localization with tetraspanin-enriched microdomain marker CD81 and lipid raft marker CD59	PubMed
	gag	HIV Gag proteins adopt a ring-like supramolecular organization at sites of intercellular contacts and co-localize with CD63 tetraspanin and raft components GM1, Thy-1, and CD59	PubMed
	gag	The highly basic region (HBR) of HIV-1 MA promotes Gag association with specific UDMs containing PSGL-1, CD43, and CD59	PubMed
	gag	The Matrix protein of HIV-1 Gag colocalizes with CD59 in lipid rafts, the site of virus particle budding from cells, and CD59 is incorporated into virus particles as a result of this process	PubMed
matrix	gag	The highly basic region (HBR) of HIV-1 MA promotes Gag association with specific UDMs containing PSGL-1, CD43, and CD59	PubMed
	gag	HIV-1 Matrix co-localizes with CD59 in lipid rafts, the site of virus particle budding from cells, and CD59 is incorporated into virus particles as a result of this process	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

RH18284 (e-PCR)
- UniSTS:4364

HUM0S15C02 (e-PCR)
- UniSTS:40486

D8S2279 (e-PCR)
- UniSTS:473907

D11S4339 (e-PCR)
- UniSTS:70461

D11S3984 (e-PCR)
- UniSTS:53573

STS-N37061 (e-PCR)
- UniSTS:30793

D11S4717 (e-PCR)
- UniSTS:61008

A004V27 (e-PCR)
- UniSTS:13910

STS-M34671 (e-PCR)
- UniSTS:70269

RH44913 (e-PCR)
- UniSTS:69024

CD59_1802 (e-PCR)
- UniSTS:280486

SHGC-32142 (e-PCR)
- UniSTS:25037

RH45061 (e-PCR)
- UniSTS:7658

CD59 (e-PCR), detects polymorphism
- UniSTS:59389

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables complement binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of activation of membrane attack complex	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of complement activation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of complement-dependent cytotoxicity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info
located_in transport vesicle	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: CD59 glycoprotein

Names: 1F5 antigen; 20 kDa homologous restriction factor; CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344); CD59 blood group antigen; CD59 molecule, complement regulatory protein; Ly-6-like protein; MEM43 antigen; T cell-activating protein; human leukocyte antigen MIC11; lymphocytic antigen CD59/MEM43; membrane attack complex (MAC) inhibition factor; membrane attack complex inhibition factor; membrane inhibitor of reactive lysis; protectin; surface anitgen recognized by monoclonal antibody 16.3A5

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.

Genomic

NG_008057.1 RefSeqGene

Range

5000..38469

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_41

mRNA and Protein(s)

NM_000611.6 → NP_000602.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_000602.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, AU136899, BC001506, BM680161

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000494884.1, ENST00000642928.2

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_001127223.1 → NP_001120695.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_001120695.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AK309894, AL049629, BM680161

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000404822.2, ENST00000415002.7

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_001127225.2 → NP_001120697.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_001120697.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, AU139541, BM680161, DA840870

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000410182.2, ENST00000437761.6

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_001127226.2 → NP_001120698.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_001120698.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, AU139541, BM680161

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000403511.2, ENST00000445143.6

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_001127227.2 → NP_001120699.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_001120699.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, AU139009, BM680161

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000498448.1, ENST00000652678.1

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_203329.3 → NP_976074.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_976074.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, BM680161, DA578905

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000432942.1, ENST00000527577.5

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_203330.2 → NP_976075.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_976075.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the same protein as variants 2-8.

Source sequence(s)

AL049629, AU136899, BM680161, DA250543

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000498879.1, ENST00000651785.1

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...
NM_203331.3 → NP_976076.1 CD59 glycoprotein preproprotein

See identical proteins and their annotated locations for NP_976076.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants (1-8) encode the same protein.

Source sequence(s)

AL049629, AU136899, BM680161, DA917093

Consensus CDS

CCDS7886.1

UniProtKB/Swiss-Prot

E9PR17, P13987

UniProtKB/TrEMBL

A0A2U3TZL5, Q6FHM9

Related

ENSP00000340210.3, ENST00000351554.8

Conserved Domains (1) summary

cd00117
Location:26 → 97

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 ...