Format

Send to:

Choose Destination
    • Showing Current items.

    MMD monocyte to macrophage differentiation associated [ Homo sapiens (human) ]

    Gene ID: 23531, updated on 17-Jun-2019

    Summary

    Official Symbol
    MMDprovided by HGNC
    Official Full Name
    monocyte to macrophage differentiation associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7153
    See related
    Ensembl:ENSG00000108960 MIM:604467
    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
    MMA; MMD1; PAQR11
    Summary
    This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 97.6), brain (RPKM 27.2) and 9 other tissues See more
    Orthologs

    Genomic context

    See MMD in Genome Data Viewer
    Location:
    17q22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (55392617..55421886, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53469974..53499341, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 4 Neighboring gene uncharacterized LOC107985002 Neighboring gene VISTA enhancer hs2291 Neighboring gene HLF transcription factor, PAR bZIP family member Neighboring gene uncharacterized LOC101927367 Neighboring gene uncharacterized LOC105371833

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cytolysis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    monocyte to macrophage differentiation factor
    Names
    macrophage maturation-associated
    monocyte to macrophage differentiation protein
    progestin and adipoQ receptor family member 11
    progestin and adipoQ receptor family member XI

    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_012329.3NP_036461.2  monocyte to macrophage differentiation factor

      See identical proteins and their annotated locations for NP_036461.2

      Status: REVIEWED

      Source sequence(s)
      AY424289, BC026324, N40480, X85750
      Consensus CDS
      CCDS11586.1
      UniProtKB/Swiss-Prot
      Q15546
      Related
      ENSP00000262065.3, ENST00000262065.8
      Conserved Domains (1) summary
      TIGR01065
      Location:27227
      hlyIII; channel protein, hemolysin III family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      55392617..55421886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721795.3XP_006721858.1  monocyte to macrophage differentiation factor isoform X1

      Related
      ENSP00000497849.1, ENST00000649377.1
      Conserved Domains (1) summary
      TIGR01065
      Location:27258
      hlyIII; channel protein, hemolysin III family

    RNA

    1. XR_001752463.2 RNA Sequence

    2. XR_001752464.2 RNA Sequence

    3. XR_429880.3 RNA Sequence

    4. XR_934430.2 RNA Sequence

    Support Center