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AIRIM AFG2 interacting ribosome maturation factor [ Homo sapiens (human) ]

Gene ID: 54955, updated on 2-Nov-2024

Summary

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Official Symbol
AIRIMprovided by HGNC
Official Full Name
AFG2 interacting ribosome maturation factorprovided by HGNC
Primary source
HGNC:HGNC:26039
See related
Ensembl:ENSG00000116922 MIM:614799; AllianceGenome:HGNC:26039
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf109
Summary
Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 3.6), ovary (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See AIRIM in Genome Data Viewer
Location:
1p34.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37681570..37692242, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37546290..37556969, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38147242..38157914, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:38033816-38035015 Neighboring gene dynein axonemal light intermediate chain 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:38041731-38042930 Neighboring gene G protein nucleolar 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 771 Neighboring gene Sharpr-MPRA regulatory region 1638 Neighboring gene Sharpr-MPRA regulatory region 1490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38096333-38096846 Neighboring gene R-spondin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38098855-38099382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38099911-38100438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38100439-38100965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38126219-38126852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38128815-38129348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38129349-38129881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38132271-38132990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38156929-38157439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38157440-38157949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:38157950-38158460 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:38158461-38158969 Neighboring gene MPRA-validated peak183 silencer Neighboring gene cell division cycle associated 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38191191-38191692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38191693-38192192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38192280-38192780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38192781-38193281 Neighboring gene EPH receptor A10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38201025-38201524 Neighboring gene small nucleolar RNA U13

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 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. C1orf109 promotes malignant phenotype of liver cancer via wnt signaling pathway in a CK2-dependent manner. Sun J, et al. J Mol Histol, 2023 Apr. PMID 36988773
  2. Identification and characterization of a novel gene, c1orf109, encoding a CK2 substrate that is involved in cancer cell proliferation. Liu SS, et al. J Biomed Sci, 2012 May 1. PMID 22548824, Free PMC Article
  3. Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly. Ni C, et al. Cell Rep, 2022 Mar 29. PMID 35354024, Free PMC Article
  4. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Cheng CY, et al. Am J Hum Genet, 2013 Aug 8. PMID 24144296, Free PMC Article
  5. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C1orf109 promotes malignant phenotype of liver cancer via wnt signaling pathway in a CK2-dependent manner.
    Title: C1orf109 promotes malignant phenotype of liver cancer via wnt signaling pathway in a CK2-dependent manner.
  2. Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.
    Title: Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.
  3. our findings suggest that C1ORF109 may be the downstream target of protein kinase CK2 and involved in the regulation of cancer cell proliferation.
    Title: Identification and characterization of a novel gene, c1orf109, encoding a CK2 substrate that is involved in cancer cell proliferation.
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
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ20508

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 ribosomal large subunit biogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
AFG2-interacting ribosome maturation factor
Names
ribosome biogenesis protein C1orf109
uncharacterized protein C1orf109

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_001303030.2 → NP_001289959.1  AFG2-interacting ribosome maturation factor isoform 2

    See identical proteins and their annotated locations for NP_001289959.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding sequence compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK000515, BC018109, BC063843, DC314995
    UniProtKB/TrEMBL
    B4DRQ5, B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:75 → 229
    CK2S; Casein Kinase 2 substrate

  2. NM_001303031.2 → NP_001289960.1  AFG2-interacting ribosome maturation factor isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK000515, AK316093, BC018109, DC314995
    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76 → 230
    CK2S; Casein Kinase 2 substrate

  3. NM_001350755.2 → NP_001337684.1  AFG2-interacting ribosome maturation factor isoform 4

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, DC314995
    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76 → 214
    CK2S; Casein Kinase 2 substrate

  4. NM_001350756.2 → NP_001337685.1  AFG2-interacting ribosome maturation factor isoform 5

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DC314995
    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:75 → 213
    CK2S; Casein Kinase 2 substrate

  5. NM_001350757.2 → NP_001337686.1  AFG2-interacting ribosome maturation factor isoform 1

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, DA608785, DB003989, DC364861
    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76 → 230
    CK2S; Casein Kinase 2 substrate

  6. NM_001350758.2 → NP_001337687.1  AFG2-interacting ribosome maturation factor isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, CX762455, DA608785, DB003989, DC364861
    UniProtKB/TrEMBL
    B4DRQ5, B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:75 → 229
    CK2S; Casein Kinase 2 substrate

  7. NM_001350759.2 → NP_001337688.1  AFG2-interacting ribosome maturation factor isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, CX762455, DA608785, DC387999
    UniProtKB/TrEMBL
    B4DRQ5, B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:75 → 229
    CK2S; Casein Kinase 2 substrate

  8. NM_001350760.2 → NP_001337689.1  AFG2-interacting ribosome maturation factor isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA472787, DA608785, DC314995
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

  9. NM_001350761.2 → NP_001337690.1  AFG2-interacting ribosome maturation factor isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

  10. NM_001350762.2 → NP_001337691.1  AFG2-interacting ribosome maturation factor isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, DB003989
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

  11. NM_001350763.2 → NP_001337692.1  AFG2-interacting ribosome maturation factor isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA472787, DA608785, DB003989
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

  12. NM_001350764.2 → NP_001337693.1  AFG2-interacting ribosome maturation factor isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, HY118696
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

  13. NM_001350765.2 → NP_001337694.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA709845, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  14. NM_001350766.2 → NP_001337695.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  15. NM_001350767.2 → NP_001337696.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DB002412, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  16. NM_001350768.2 → NP_001337697.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA707995
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Related
    ENSP00000477011.1, ENST00000491981.5
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  17. NM_001350769.2 → NP_001337698.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA709845
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Related
    ENSP00000477159.1, ENST00000464085.5
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  18. NM_001350770.2 → NP_001337699.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA472787, DA608785, DA709845
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Related
    ENSP00000476779.2, ENST00000486637.2
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  19. NM_001350771.2 → NP_001337700.1  AFG2-interacting ribosome maturation factor isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, BC018109, DA608785, HY118696
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

  20. NM_017850.3 → NP_060320.1  AFG2-interacting ribosome maturation factor isoform 3

    See identical proteins and their annotated locations for NP_060320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites in its 5' UTR and uses a downstream in-frame start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK000515, BC018109, DC314995
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    D3DPT1, Q8WVD1, Q9NX04
    UniProtKB/TrEMBL
    V9GYQ8
    Related
    ENSP00000350704.4, ENST00000358011.8
    Conserved Domains (1) summary
    pfam15011
    Location:13 → 167
    CK2S; Casein Kinase 2 substrate

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    37681570..37692242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541639.2 → XP_011539941.1  AFG2-interacting ribosome maturation factor isoform X2

    See identical proteins and their annotated locations for XP_011539941.1

    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:75 → 213
    CK2S; Casein Kinase 2 substrate

  2. XM_011541638.2 → XP_011539940.1  AFG2-interacting ribosome maturation factor isoform X1

    See identical proteins and their annotated locations for XP_011539940.1

    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76 → 214
    CK2S; Casein Kinase 2 substrate

  3. XM_011541637.2 → XP_011539939.1  AFG2-interacting ribosome maturation factor isoform X1

    See identical proteins and their annotated locations for XP_011539939.1

    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76 → 214
    CK2S; Casein Kinase 2 substrate

  4. XM_047423499.1 → XP_047279455.1  AFG2-interacting ribosome maturation factor isoform X1

  5. XM_005270980.1 → XP_005271037.1  AFG2-interacting ribosome maturation factor isoform X3

    See identical proteins and their annotated locations for XP_005271037.1

    Conserved Domains (1) summary
    pfam15011
    Location:13 → 151
    CK2S; Casein Kinase 2 substrate

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    37546290..37556969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337264.1 → XP_054193239.1  AFG2-interacting ribosome maturation factor isoform X2

  2. XM_054337262.1 → XP_054193237.1  AFG2-interacting ribosome maturation factor isoform X1

  3. XM_054337261.1 → XP_054193236.1  AFG2-interacting ribosome maturation factor isoform X1

  4. XM_054337263.1 → XP_054193238.1  AFG2-interacting ribosome maturation factor isoform X1

  5. XM_054337265.1 → XP_054193240.1  AFG2-interacting ribosome maturation factor isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX04.1 GenPept UniProtKB/Swiss-Prot:Q9NX04

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