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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD53 Gene

protein-coding   GIFtS: 59
GCID: GC01P111413

CD53 molecule

(Previous name: CD53 antigen )
(Previous symbol: MOX44)
 Explore 8 diseases affiliated with
CD53 via our new
 Human Malady Compendium 
Biological research products
for CD53
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CD53 Molecule1 2     Cell Surface Antigen2
MOX441 2 3 5     Leukocyte Surface Antigen CD532
TSPAN251 2 3     Tetraspanin-253
CD53 Antigen1 2 3     Transmembrane Glycoprotein2
Cell Surface Glycoprotein CD532 3     Tspan-253
Antigen MOX44 Identified By Monoclonal Antibody MRC-OX442     Tetraspanin-253
CD53 Glycoprotein2     Tspan-253
CD53 Tetraspan Antigen2     

External Ids:    HGNC: 16861   Entrez Gene: 9632   Ensembl: ENSG000001431197   OMIM: 1515255   UniProtKB: P193973   

Export aliases for CD53 gene to outside databases

Previous GC identifers: GC01P111831 GC01P110282 GC01P110516 GC01P110714 GC01P111127 GC01P109285


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CD53:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.
Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains.
The proteins mediate signal transduction events that play a role in the regulation of cell development, activation,
growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It
contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to
play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated
with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple
transcript variants encoding the same protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CD53_HUMAN, P19397
Function: May be involved in growth regulation in hematopoietic cells

Gene Wiki entry for CD53


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD53 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD53 promoter sequence
   Search SABiosciences Chromatin IP Primers for CD53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD53


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

CD53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD53 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P111413:  view genomic region     (about GC identifiers)

Start:
111,413,821 bp from pter      End:
111,442,558 bp from pter
Size:
28,738 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD53_HUMAN, P19397 (See protein sequence)
Recommended Name: Leukocyte surface antigen CD53  
Size: 219 amino acids; 24341 Da
Subunit: Interacts with SCIMP
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B2R905 Q5U0D6

Explore the universe of human proteins at neXtProt for CD53: NX_P19397

CD53 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (2 alternative transcripts): 
NP_000551.1  NP_001035122.1  

ENSEMBL proteins: 
 ENSP00000271324   ENSP00000412250  

Human Recombinant Protein Products: 
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Browse ProSpec Recombinant Proteins
Uscn Proteins for CD53

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001772immunological synapse IDA--
GO:0005886plasma membrane TAS8452817
GO:0009986cell surface IEA--
GO:0016021integral to membrane IEA--


CD53 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for CD53


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CD53 for domains           About GeneDecksing

4 InterPro domains/families:
 IPR018499 Tetraspanin/Peripherin
 IPR000301 Tetraspanin
 IPR008952 Tetraspanin_EC2
 IPR018503 Tetraspanin_CS

Graphical View of Domain Structure for InterPro Entry P19397

ProtoNet protein and cluster: P19397

1 Blocks protein family: IPB000301 Transmembrane four family signature

UniProtKB/Swiss-Prot: CD53_HUMAN, P19397
Similarity: Belongs to the tetraspanin (TM4SF) family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: CD53_HUMAN, P19397
Function: May be involved in growth regulation in hematopoietic cells

     Genatlas biochemistry entry for CD53:
cell differentiation antigen 53,32-40kDa,single chain glycoprotein,identified by monoclonal antibodies
H129,H136,MEM-53,HD77,see MOX44

miRNA
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4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD53:
hsa-miR-875-3p hsa-miR-34b hsa-miR-431 hsa-miR-1299
SwitchGear 3'UTR luciferase reporter plasmidCD53 3' UTR sequence
Inhib. RNA
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD53 (see all 7)
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD53

Gene Editing
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Clone
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD53 

Cell Line
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Search LifeMap BioReagents cell lines for CD53

In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD53

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--


CD53 for ontologies           About GeneDecksing



(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1IL-2 Signaling Pathway
IL-2 Signaling Pathway1.00


1 BioSystems Pathway for CD53 
    IL-2 Signaling Pathway


Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD53

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for CD53 (P193973 ENSP000002713244) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
InteractantInteraction Details
GeneCardExternal ID(s)
CD2P067293, ENSP000003584904I2D: score=3 STRING: ENSP00000358490
IL2P605683, ENSP000002267304I2D: score=1 STRING: ENSP00000226730
IL4P051123, ENSP000002314494I2D: score=1 STRING: ENSP00000231449
CD9P219263, ENSP000000091804I2D: score=3 STRING: ENSP00000009180
GGT1P194403, ENSP000002489234I2D: score=1 STRING: ENSP00000248923
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007165signal transduction NAS8404042


CD53 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CD53
Search CenterWatch for drugs/clinical trials and news about CD53 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CD53 gene (2 alternative transcripts): 
NM_000560.3  NM_001040033.1  

Unigene Cluster for CD53:

CD53 molecule
Hs.443057  [show with all ESTs]
Unigene Representative Sequence: NM_001040033
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000468160 ENST00000271324(uc001dzw.3 uc001dzx.3 uc010owa.2)
ENST00000471220 ENST00000476408 ENST00000497404 ENST00000464329 ENST00000429072


miRNA
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4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD53:
hsa-miR-875-3p hsa-miR-34b hsa-miR-431 hsa-miR-1299
SwitchGear 3'UTR luciferase reporter plasmidCD53 3' UTR sequence
Inhib. RNA
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Browse for Gene Knock-down Tools from EMD Millipore
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Clone
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD53

Additional cDNA sequence: 

AK298723.1 AK313582.1 BC035456.1 BC040693.1 BT019643.1 M37033.1 M60871.1 

20 DOTS entries:

DT.92433604  DT.100819256  DT.99943676  DT.121382896  DT.209137  DT.100019308  DT.121382848  DT.92433596 
DT.95109186  DT.100026950  DT.100819258  DT.121382833  DT.121382890  DT.91819522  DT.100772197  DT.100819257 
DT.100819261  DT.75111548  DT.92433595  DT.95109190 

24/326 AceView cDNA sequences (see all 326):

CR614019 BU073271 AW575263 H70124 CR592401 AW575174 AA383886 AI032692 
BM457687 AL602018 CR619551 CR598355 CR609698 AI040645 CR605120 BF795100 
BX381661 AI076089 CK429291 AI022073 CR620545 CD364590 BC040693 BP367968 

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CD53 (see all 10)    About this scheme

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1:        -                             -     -                             -           -                                       
SP2:                                      -     -                             -           -                                       
SP3:                                      -     -                             -           -     -                                 
SP4:        -                             -     -                 -     -     -     -     -     -     -     -                     
SP5:                                      -     -                             -                                                   


ECgene alternative splicing isoforms for CD53

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CD53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCCCTACA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

CD53 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
1 LifeMap In Vivo Development Anatomical Compartment/Cell 
Tissue Anatomical Compartment CellCategory (developmental path)
AdiposeBody Subcutaneous White AdiposeAdipose
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See CD53 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CD53

SOURCE GeneReport for Unigene cluster: Hs.443057

UniProtKB/Swiss-Prot: CD53_HUMAN, P19397
Tissue specificity: B-cells, monocytes, macrophages, neutrophils, single (CD4 or CD8) positive thymocytes and
peripheral T-cells

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD53

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CD53 gene from 1/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
zebrafish
(Danio rerio)
Actinopterygii BC053225.12   -- 74.25(n)   393342  BC053225.1 


ENSEMBL Gene Tree for CD53 (if available)
TreeFam Gene Tree for CD53 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CD53 gene
CD1512  TSPAN12  CD372  TSPAN62  TSPAN92  TSPAN32  CD632  CD822  
TSPAN182  TSPAN72  TSPAN42  TSPAN112  ENSG000002503492  TSPAN82  
15 SIMAP similar genes for CD53 using alignment to 2 protein entries:     CD53_HUMAN (see all proteins):
TSPAN4    TSPAN9    TSPAN18    CD82    CD151    CD37
CD9    TSPAN5    TSPAN17    TSPAN1    TSPAN8    CD81
TSPAN11    TSPAN2    TSPAN3

CD53 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for CD53
PGOHUM00000245999


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/524 NCBI SNPs in CD53 are shown (see all 524    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1857618421,2
--111411881(+) CACACA/GCATGT 1 -- us2k10--------
rs1902384141,2
--111411925(+) AGACAC/TGGAAT 1 -- us2k10--------
rs1809349871,2
--111411970(+) AGAAAA/GTGTGG 1 -- us2k10--------
rs1411878961,2
--111412016(+) AAAGA-/ATG   
   AGATG
ATGTT
1 -- us2k10--------
rs1400657921,2
--111412059(+) GAGGGA/CCTTAT 1 -- us2k10--------
rs561040201,2
F,--111412151(+) TGGACG/ACAAAG 1 -- us2k11Minor allele frequency- A:0.05WA 118
rs1440207411,2
--111412152(+) GGACGC/TAAAGA 1 -- us2k10--------
rs1473247961,2
--111412196(+) TGGAGC/TGGGGA 1 -- us2k10--------
rs1855032941,2
--111412197(+) GGAGCA/GGGGAA 1 -- us2k10--------
rs1410619891,2
--111412257(+) GGGTGA/GTGAAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for CD53 (111413821 - 111442558 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for CD53: --

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD53
DNA2.0 Custom Variant and Variant Library Synthesis for CD53

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CD53 for disorders           About GeneDecksing

OMIM gene information: 151525    OMIM disorders: --

8 diseases for CD53:    About MalaCards
phagocyte bactericidal dysfunction    immunodeficiency    eczema    rheumatoid arthritis
hepatitis b    arthritis    hepatitis    melanoma

2 diseases from the University of Copenhagen DISEASES database for CD53:
leukocyte-adhesion deficiency syndrome     Intestinal tuberculosis

1 Novoseek disease relationship for CD53 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
tumors 0 4 12606948 (2), 15931266 (1)

Human Genome Epidemiology (HuGE) Navigator: CD53 (4 documents)

Export disorders for CD53 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CD53 gene, integrated from 9 sources (see all 61):
(articles sorted by number of sources associating them with CD53)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The human leucocyte surface antigen CD53 is a protein structurally similar to the CD37 and MRC OX-44 antigens. (PubMed id 1700763)1, 2, 9 Angelisova P.... Horejsi V. (1990)
  2. Genomic structure of the human CD53 gene. (PubMed id 8319976)1, 3, 9 Korinek V. and Horejsi V. (1993)
  3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Identification and analysis of cDNA clones encoding CD53. A pan- leukocyte antigen related to membrane transport proteins. (PubMed id 2258620)1, 2 Amiot M. (1990)
  6. Gene structure, chromosomal localization, and protein sequence of mouse CD53 (Cd53): evidence that the transmembrane 4 superfamily arose by gene duplication. (PubMed id 8452817)1, 9 Wright M.D....Williams A.F. (1993)
  7. Supramolecular complexes of MHC class I, MHC class II, CD20, and tetraspan molecules (CD53, CD81, and CD82) at the surface of a B cell line JY. (PubMed id 8816400)1, 9 Szollosi J....Damjanovich S. (1996)
  8. Apoptosis protection and survival signal by the CD53 tetraspanin antigen. (PubMed id 12606948)1, 9 Yunta M. and Lazo P.A. (2003)
  9. Differential stability of tetraspanin/tetraspanin interactions: role of palmitoylation. (PubMed id 11959120)1, 9 Charrin S....Rubinstein E. (2002)
  10. Functional expression of transmembrane 4 superfamily molecules on human eosinophils. (PubMed id 10529602)1, 9 Matsumoto K....Kurashige T. (1999)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 963 HGNC: 1686 AceView: CD53 Ensembl:ENSG00000143119 euGenes: HUgn963
ECgene: CD53 H-InvDB: CD53

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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PharmGKB entry for CD53 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CD53 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
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IP news from LifeMap Sciences, Inc.)
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Patent Information for CD53 gene:
Search GeneIP for patents involving CD53

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