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

Gene ID: 23531, updated on 17-Jun-2024

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; AllianceGenome:HGNC:7153
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
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Genomic context

See MMD in Genome Data Viewer
Location:
17q22
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55392622..55421835, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56267612..56296809, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53469983..53499196, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 4 Neighboring gene uncharacterized LOC107985002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8731 Neighboring gene VISTA enhancer hs2291 Neighboring gene Sharpr-MPRA regulatory regions 2486 and 1497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:53398039-53398539 Neighboring gene Sharpr-MPRA regulatory region 10605 Neighboring gene HLF transcription factor, PAR bZIP family member Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8734 Neighboring gene MPRA-validated peak2902 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12415 Neighboring gene small integral membrane protein 36 Neighboring gene uncharacterized LOC124904034

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables pore-forming activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma 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)

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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
    B2R6X9, D3DTY6, Q15546, Q8TAN7
    UniProtKB/TrEMBL
    B4E1F1
    Related
    ENSP00000262065.3, ENST00000262065.8
    Conserved Domains (1) summary
    TIGR01065
    Location:27227
    hlyIII; channel protein, hemolysin III family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    55392622..55421835 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435708.1XP_047291664.1  monocyte to macrophage differentiation factor isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    56267612..56296809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315630.1XP_054171605.1  monocyte to macrophage differentiation factor isoform X1