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MACIR macrophage immunometabolism regulator [ Homo sapiens (human) ]

Gene ID: 90355, updated on 31-Dec-2019

Summary

Official Symbol
MACIRprovided by HGNC
Official Full Name
macrophage immunometabolism regulatorprovided by HGNC
Primary source
HGNC:HGNC:25052
See related
Ensembl:ENSG00000181751 MIM:616608
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

Genomic context

See MACIR in Genome Data Viewer
Location:
5q21.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (103258763..103278660)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (102594442..102614361)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene gypsy retrotransposon integrase 1 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 Neighboring gene PDZ and pleckstrin homology domains 1, pseudogene Neighboring gene long intergenic non-protein coding RNA 2115

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25291

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
UNC119-binding protein C5orf30
Names
UPF0684 protein C5orf30

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_001316968.2NP_001303897.1  UNC119-binding protein C5orf30

    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:3200
    UNC119_bdg; UNC119-binding protein C5orf30 homolog
  2. NM_001316969.2NP_001303898.1  UNC119-binding protein C5orf30

    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:3200
    UNC119_bdg; UNC119-binding protein C5orf30 homolog
  3. NM_001377283.1NP_001364212.1  UNC119-binding protein C5orf30

    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
  4. NM_001377284.1NP_001364213.1  UNC119-binding protein C5orf30

    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
  5. NM_001377285.1NP_001364214.1  UNC119-binding protein C5orf30

    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
  6. NM_001377286.1NP_001364215.1  UNC119-binding protein C5orf30

    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
  7. NM_001377287.1NP_001364216.1  UNC119-binding protein C5orf30

    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
  8. NM_001377288.1NP_001364217.1  UNC119-binding protein C5orf30

    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
  9. NM_033211.4NP_149988.1  UNC119-binding protein C5orf30

    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:3200
    UNC119_bdg; UNC119-binding protein C5orf30 homolog

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    103258763..103278660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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