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    CD68 CD68 molecule [ Homo sapiens (human) ]

    Gene ID: 968, updated on 20-May-2018
    Official Symbol
    CD68provided by HGNC
    Official Full Name
    CD68 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1693
    See related
    Ensembl:ENSG00000129226 MIM:153634; Vega:OTTHUMG00000108146
    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
    GP110; LAMP4; SCARD1
    Summary
    This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 159.3), lung (RPKM 115.5) and 19 other tissues See more
    Orthologs
    See CD68 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7579487..7582111)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7482805..7485429)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SENP3-EIF4A1 readthrough (NMD candidate) Neighboring gene eukaryotic translation initiation factor 4A1 Neighboring gene small nucleolar RNA, C/D box 10 Neighboring gene uncharacterized LOC100996842 Neighboring gene small nucleolar RNA, H/ACA box 67 Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene SRY-box 15 Neighboring gene FMR1 autosomal homolog 2 Neighboring gene sex hormone binding globulin

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    NHGRI GWA Catalog
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: EIF4A1

    Homology

    Clone Names

    • DKFZp686M18236

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    macrosialin
    Names
    CD68 antigen
    macrophage antigen CD68
    scavenger receptor class D, member 1

    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_001040059.1NP_001035148.1  macrosialin isoform B precursor

      See identical proteins and their annotated locations for NP_001035148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AW294871, BC015557, BX438711, DB187273
      Consensus CDS
      CCDS58512.1
      UniProtKB/Swiss-Prot
      P34810
      Related
      ENSP00000369867.6, OTTHUMP00000258996, ENST00000380498.10, OTTHUMT00000441278
      Conserved Domains (1) summary
      pfam01299
      Location:58292
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)
    2. NM_001251.2NP_001242.2  macrosialin isoform A precursor

      See identical proteins and their annotated locations for NP_001242.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AW294871, BC015557, DB187273
      Consensus CDS
      CCDS11114.1
      UniProtKB/Swiss-Prot
      P34810
      Related
      ENSP00000250092.6, OTTHUMP00000135285, ENST00000250092.10, OTTHUMT00000226949
      Conserved Domains (1) summary
      pfam01299
      Location:85319
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      7579487..7582111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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