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CD68 CD68 molecule [ Homo sapiens (human) ]

Gene ID: 968, updated on 5-Aug-2018

Summary

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

Genomic context

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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

Preferred Names
macrosialin
Names
CD68 antigen
macrophage antigen CD68
scavenger receptor class D, member 1

NCBI Reference Sequences (RefSeq)

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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