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MACIR macrophage immunometabolism regulator [ Homo sapiens (human) ]

Gene ID: 90355, updated on 27-Nov-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
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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

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