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

    Gene ID: 54955, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 3.6), ovary (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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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    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      B7Z9X8

    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

      UniProtKB/TrEMBL
      B7Z9X8

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

      UniProtKB/TrEMBL
      B7Z9X8

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

      UniProtKB/TrEMBL
      B7Z9X8

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

      UniProtKB/TrEMBL
      B7Z9X8

    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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