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    MACIR macrophage immunometabolism regulator [ Homo sapiens (human) ]

    Gene ID: 90355, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MACIRprovided by HGNC
    Official Full Name
    macrophage immunometabolism regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:25052
    See related
    Ensembl:ENSG00000181751 MIM:616608; AllianceGenome:HGNC:25052
    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
    C5orf30
    Summary
    This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]
    Expression
    Broad expression in colon (RPKM 11.1), brain (RPKM 10.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MACIR in Genome Data Viewer
    Location:
    5q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (103258374..103278660)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (103766495..103786818)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (102594075..102614361)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:102455480-102455980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:102477431-102477932 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22860 Neighboring gene uncharacterized LOC124901037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16211 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:102778681-102778899 Neighboring gene PDZ and pleckstrin homology domains 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22861 Neighboring gene long intergenic non-protein coding RNA 2115

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Rheumatoid arthritis: C5orf30 regulates severity of tissue destruction in RA. Onuora S. Nat Rev Rheumatol, 2015 Nov. PMID 26439407
    2. Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Viatte S, et al. Ann Rheum Dis, 2012 Dec. PMID 22661644, Free PMC Article
    3. Allele-dose association of the C5orf30 rs26232 variant with joint damage in rheumatoid arthritis. Teare MD, et al. Arthritis Rheum, 2013 Oct. PMID 23817893
    4. Association of the Rheumatoid Arthritis Severity Variant rs26232 with the Invasive Activity of Synovial Fibroblasts. Dorris ER, et al. Cells, 2019 Oct 22. PMID 31652652, Free PMC Article
    5. Genetic markers as therapeutic target in rheumatoid arthritis: A game changer in clinical therapy? Ali AM, et al. Rheumatol Int, 2016 Nov. PMID 27638722

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C5orf30 skews macrophage immunometabolism, demonstrating a mechanism for C5orf30-mediated immune regulation
      Title: The Autoimmune Susceptibility Gene C5orf30 Regulates Macrophage-Mediated Resolution of Inflammation.
    2. C5orf30 is a previously unidentified negative regulator of tissue damage in rheumatoid arthritis, and this protein may act by modulating the autoaggressive phenotype that is characteristic of synovial fibroblasts
      Title: C5orf30 is a negative regulator of tissue damage in rheumatoid arthritis.
    3. The variant rs26232, in the first intron of the C5orf30 locus, is associated with the severity of radiologic damage in rheumatoid arthritis and is independent of established prognostic biomarkers.
      Title: Allele-dose association of the C5orf30 rs26232 variant with joint damage in rheumatoid arthritis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25291

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cytokine production involved in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of fibroblast migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    macrophage immunometabolism regulator
    Names
    UNC119-binding protein C5orf30
    UPF0684 protein C5orf30

    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_001316968.2 → NP_001303897.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All nine variants encode the same protein.
      Source sequence(s)
      BC009203, DA190592
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Related
      ENSP00000421270.1, ENST00000510890.1
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    2. NM_001316969.2 → NP_001303898.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC011362, BC009203, DA503423
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Related
      ENSP00000422836.1, ENST00000515669.5
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    3. NM_001377283.1 → NP_001364212.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    4. NM_001377284.1 → NP_001364213.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    5. NM_001377285.1 → NP_001364214.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    6. NM_001377286.1 → NP_001364215.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    7. NM_001377287.1 → NP_001364216.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    8. NM_001377288.1 → NP_001364217.1  macrophage immunometabolism regulator

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      AC011362
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    9. NM_033211.4 → NP_149988.1  macrophage immunometabolism regulator

      See identical proteins and their annotated locations for NP_149988.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All nine variants encode the same protein.
      Source sequence(s)
      BC009203
      Consensus CDS
      CCDS4095.1
      UniProtKB/Swiss-Prot
      Q96GV9
      Related
      ENSP00000326110.2, ENST00000319933.7
      Conserved Domains (1) summary
      pfam15435
      Location:3 → 200
      UNC119_bdg; UNC119-binding protein C5orf30 homolog

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      103258374..103278660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      103766495..103786818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GV9.1 GenPept UniProtKB/Swiss-Prot:Q96GV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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