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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

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