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CD33 CD33 molecule [ Homo sapiens (human) ]

Gene ID: 945, updated on 2-Nov-2024

Summary

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Official Symbol
CD33provided by HGNC
Official Full Name
CD33 moleculeprovided by HGNC
Primary source
HGNC:HGNC:1659
See related
Ensembl:ENSG00000105383 MIM:159590; AllianceGenome:HGNC:1659
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
p67; SIGLEC3; SIGLEC-3; CD33rSiglec
Summary
Enables protein phosphatase binding activity; protein tyrosine phosphatase activator activity; and sialic acid binding activity. Involved in several processes, including immune response-regulating signaling pathway; negative regulation of cytokine production; and negative regulation of monocyte activation. Located in several cellular components, including Golgi apparatus; external side of plasma membrane; and peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in spleen (RPKM 7.5), bone marrow (RPKM 6.6) and 19 other tissues See more
Orthologs
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Genomic context

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See CD33 in Genome Data Viewer
Location:
19q13.41
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51211076..51240016)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54304101..54328637)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51728336..51743271)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985327 Neighboring gene sialic acid binding Ig like lectin 21, pseudogene Neighboring gene uncharacterized LOC124904751 Neighboring gene microRNA 8074 Neighboring gene sialic acid binding Ig like lectin 22, pseudogene Neighboring gene SIGLEC family like 1 Neighboring gene long intergenic non-protein coding RNA 1872 Neighboring gene sialic acid binding Ig like lectin 24, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. CD33 is frequently expressed in cases of myelodysplastic syndrome and chronic myelomonocytic leukemia with elevated blast count. Sanford D, et al. Leuk Lymphoma, 2016 Aug. PMID 26726757, Free PMC Article
  2. CD33 in Alzheimer's disease. Jiang T, et al. Mol Neurobiol, 2014 Feb. PMID 23982747
  3. CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility. Raj T, et al. Hum Mol Genet, 2014 May 15. PMID 24381305, Free PMC Article
  4. Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression. Ohgami RS, et al. Am J Surg Pathol, 2014 Sep. PMID 24618611
  5. CD33 rs3865444 Polymorphism Contributes to Alzheimer's Disease Susceptibility in Chinese, European, and North American Populations. Li X, et al. Mol Neurobiol, 2015 Aug. PMID 25186233

See all (141) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lack of Association between CD33 rs3865444 and Amyotrophic Lateral Sclerosis: A Case-Control Study.
    Title: Lack of Association between CD33 rs3865444 and Amyotrophic Lateral Sclerosis: A Case-Control Study.
  2. Plasma proteomic profiling identifies CD33 as a marker of HIV control in natural infection and after therapeutic vaccination.
    Title: Plasma proteomic profiling identifies CD33 as a marker of HIV control in natural infection and after therapeutic vaccination.
  3. CD33 polymorphisms and Parkinson's disease Parkinson's disease in northern Chinese Han population: A case-control study.
    Title: CD33 polymorphisms and Parkinson's disease Parkinson's disease in northern Chinese Han population: A case-control study.
  4. CD33 as a leukocyte-associated marker expressed on human spermatozoa.
    Title: CD33 as a leukocyte-associated marker expressed on human spermatozoa.
  5. Alzheimer's Disease-Associated Alternative Splicing of CD33 Is Regulated by the HNRNPA Family Proteins.
    Title: Alzheimer's Disease-Associated Alternative Splicing of CD33 Is Regulated by the HNRNPA Family Proteins.
  6. CD33 isoforms in microglia and Alzheimer's disease: Friend and foe.
    Title: CD33 isoforms in microglia and Alzheimer's disease: Friend and foe.
  7. No Evidence that CD33 rs12459419 Polymorphism Predicts Gemtuzumab Ozogamicin Response in Consolidation Treatment of Acute Myeloid Leukemia Patients: Experience of the PETHEMA Group.
    Title: No Evidence that CD33 rs12459419 Polymorphism Predicts Gemtuzumab Ozogamicin Response in Consolidation Treatment of Acute Myeloid Leukemia Patients: Experience of the PETHEMA Group.
  8. A CD33 frameshift variant is associated with neuromyelitis optica spectrum disorders.
    Title: A CD33 frameshift variant is associated with neuromyelitis optica spectrum disorders.
  9. CD33 rs2455069 SNP: Correlation with Alzheimer's Disease and Hypothesis of Functional Role.
    Title: CD33 rs2455069 SNP: Correlation with Alzheimer's Disease and Hypothesis of Functional Role.
  10. CD33 Delineates Two Functionally Distinct NK Cell Populations Divergent in Cytokine Production and Antibody-Mediated Cellular Cytotoxicity.
    Title: CD33 Delineates Two Functionally Distinct NK Cell Populations Divergent in Cytokine Production and Antibody-Mediated Cellular Cytotoxicity.
Submit: New GeneRIF Correction See all GeneRIFs (104)

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
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.
EBI GWAS Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates CD33 in HEK 293T cells PubMed
Vpr vpr HIV-1 Vpr downregulates CD33 expression in PBMC PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00391

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine phosphatase activator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sialic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sialic acid binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in Fc-gamma receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in immune response-inhibiting signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of interleukin-8 production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of monocyte activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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
  

General protein information

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Preferred Names
myeloid cell surface antigen CD33
Names
CD33 antigen (gp67)
CD33 molecule transcript
gp67
sialic acid-binding Ig-like lectin 3

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)

  1. NM_001082618.2 → NP_001076087.1  myeloid cell surface antigen CD33 isoform 2

    See identical proteins and their annotated locations for NP_001076087.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2, also known as CD33m), compared to isoform 1.
    Source sequence(s)
    AW007749, AY162464, BP303860
    Consensus CDS
    CCDS46157.1
    UniProtKB/Swiss-Prot
    P20138
    Related
    ENSP00000410126.1, ENST00000421133.6
    Conserved Domains (1) summary
    pfam00047
    Location:19 → 100
    ig; Immunoglobulin domain

  2. NM_001177608.2 → NP_001171079.1  myeloid cell surface antigen CD33 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK304810, AK309558, BP295158
    Consensus CDS
    CCDS54299.1
    UniProtKB/Swiss-Prot
    P20138
    Related
    ENSP00000375673.2, ENST00000391796.7
    Conserved Domains (3) summary
    smart00410
    Location:26 → 128
    IG_like; Immunoglobulin like
    pfam00047
    Location:146 → 227
    ig; Immunoglobulin domain
    cl11960
    Location:23 → 139
    Ig; Immunoglobulin domain

  3. NM_001772.4 → NP_001763.3  myeloid cell surface antigen CD33 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001763.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as CD33M.
    Source sequence(s)
    AW007749, BC028152, BP303860
    Consensus CDS
    CCDS33084.1
    UniProtKB/Swiss-Prot
    B4E3P8, C9JEN7, F8WAL2, P20138, Q8TD24
    UniProtKB/TrEMBL
    Q546G0
    Related
    ENSP00000262262.3, ENST00000262262.5
    Conserved Domains (3) summary
    smart00410
    Location:26 → 128
    IG_like; Immunoglobulin like
    pfam00047
    Location:146 → 227
    ig; Immunoglobulin domain
    cl11960
    Location:23 → 139
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    51211076..51240016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027508.2 → XP_016882997.1  myeloid cell surface antigen CD33 isoform X1

    Conserved Domains (3) summary
    smart00410
    Location:80 → 182
    IG_like; Immunoglobulin like
    pfam00047
    Location:200 → 281
    ig; Immunoglobulin domain
    cl11960
    Location:77 → 193
    Ig; Immunoglobulin domain

  2. XM_047439730.1 → XP_047295686.1  myeloid cell surface antigen CD33 isoform X3

  3. XM_047439728.1 → XP_047295684.1  myeloid cell surface antigen CD33 isoform X1

  4. XM_017027509.2 → XP_016882998.1  myeloid cell surface antigen CD33 isoform X2

  5. XM_017027510.2 → XP_016882999.1  myeloid cell surface antigen CD33 isoform X6

  6. XM_011527532.3 → XP_011525834.1  myeloid cell surface antigen CD33 isoform X4

    See identical proteins and their annotated locations for XP_011525834.1

    UniProtKB/Swiss-Prot
    B4E3P8, C9JEN7, F8WAL2, P20138, Q8TD24
    UniProtKB/TrEMBL
    Q546G0
    Conserved Domains (3) summary
    smart00410
    Location:26 → 128
    IG_like; Immunoglobulin like
    pfam00047
    Location:146 → 227
    ig; Immunoglobulin domain
    cl11960
    Location:23 → 139
    Ig; Immunoglobulin domain

  7. XM_047439729.1 → XP_047295685.1  myeloid cell surface antigen CD33 isoform X1

  8. XM_011527531.3 → XP_011525833.1  myeloid cell surface antigen CD33 isoform X1

    Conserved Domains (3) summary
    smart00410
    Location:80 → 182
    IG_like; Immunoglobulin like
    pfam00047
    Location:200 → 281
    ig; Immunoglobulin domain
    cl11960
    Location:77 → 193
    Ig; Immunoglobulin domain

  9. XM_047439731.1 → XP_047295687.1  myeloid cell surface antigen CD33 isoform X3

  10. XM_047439732.1 → XP_047295688.1  myeloid cell surface antigen CD33 isoform X5

RNA

  1. XR_007067046.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    54304101..54328637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322693.1 → XP_054178668.1  myeloid cell surface antigen CD33 isoform X1

  2. XM_054322694.1 → XP_054178669.1  myeloid cell surface antigen CD33 isoform X2

  3. XM_054322695.1 → XP_054178670.1  myeloid cell surface antigen CD33 isoform X6

RNA

  1. XR_008485223.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20138.2 GenPept UniProtKB/Swiss-Prot:P20138

Gene LinkOut

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