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    CD33 CD33 molecule [ Homo sapiens (human) ]

    Gene ID: 945, updated on 28-Oct-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, Oct 2024]
    Expression
    Broad expression in spleen (RPKM 7.5), bone marrow (RPKM 6.6) and 19 other tissues See more
    Orthologs
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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