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C1orf109 chromosome 1 open reading frame 109 [ Homo sapiens (human) ]

Gene ID: 54955, updated on 6-Sep-2022

Summary

Official Symbol
C1orf109provided by HGNC
Official Full Name
chromosome 1 open reading frame 109provided 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
Summary
Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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

See C1orf109 in Genome Data Viewer
Location:
1p34.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37681570..37692242, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37546290..37556969, complement)
105.20220307 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 Sharpr-MPRA regulatory region 1638 Neighboring gene Sharpr-MPRA regulatory region 1490 Neighboring gene R-spondin 1 Neighboring gene cell division cycle associated 8 Neighboring gene EPH receptor A10 Neighboring gene small nucleolar RNA U13

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ribosome biogenesis protein C1orf109; uncharacterized protein C1orf109

NCBI Reference Sequences (RefSeq)

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_001303030.2NP_001289959.1  ribosome biogenesis protein C1orf109 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/Swiss-Prot
    Q9NX04
    UniProtKB/TrEMBL
    B4DRQ5
    Conserved Domains (1) summary
    pfam15011
    Location:75229
    CK2S; Casein Kinase 2 substrate
  2. NM_001303031.2NP_001289960.1  ribosome biogenesis protein C1orf109 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/Swiss-Prot
    Q9NX04
    UniProtKB/TrEMBL
    B7Z9X8
    Conserved Domains (1) summary
    pfam15011
    Location:76230
    CK2S; Casein Kinase 2 substrate
  3. NM_001350755.2NP_001337684.1  ribosome biogenesis protein C1orf109 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, DC314995
    Conserved Domains (1) summary
    pfam15011
    Location:76214
    CK2S; Casein Kinase 2 substrate
  4. NM_001350756.2NP_001337685.1  ribosome biogenesis protein C1orf109 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DC314995
    Conserved Domains (1) summary
    pfam15011
    Location:75213
    CK2S; Casein Kinase 2 substrate
  5. NM_001350757.2NP_001337686.1  ribosome biogenesis protein C1orf109 isoform 1

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, DA608785, DB003989, DC364861
    Conserved Domains (1) summary
    pfam15011
    Location:76230
    CK2S; Casein Kinase 2 substrate
  6. NM_001350758.2NP_001337687.1  ribosome biogenesis protein C1orf109 isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, CX762455, DA608785, DB003989, DC364861
    UniProtKB/TrEMBL
    B4DRQ5
    Conserved Domains (1) summary
    pfam15011
    Location:75229
    CK2S; Casein Kinase 2 substrate
  7. NM_001350759.2NP_001337688.1  ribosome biogenesis protein C1orf109 isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC018109, BE741124, CX762455, DA608785, DC387999
    UniProtKB/TrEMBL
    B4DRQ5
    Conserved Domains (1) summary
    pfam15011
    Location:75229
    CK2S; Casein Kinase 2 substrate
  8. NM_001350760.2NP_001337689.1  ribosome biogenesis protein C1orf109 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA472787, DA608785, DC314995
    Conserved Domains (1) summary
    pfam15011
    Location:13151
    CK2S; Casein Kinase 2 substrate
  9. NM_001350761.2NP_001337690.1  ribosome biogenesis protein C1orf109 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845
    Conserved Domains (1) summary
    pfam15011
    Location:13151
    CK2S; Casein Kinase 2 substrate
  10. NM_001350762.2NP_001337691.1  ribosome biogenesis protein C1orf109 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, DB003989
    Conserved Domains (1) summary
    pfam15011
    Location:13151
    CK2S; Casein Kinase 2 substrate
  11. NM_001350763.2NP_001337692.1  ribosome biogenesis protein C1orf109 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA472787, DA608785, DB003989
    Conserved Domains (1) summary
    pfam15011
    Location:13151
    CK2S; Casein Kinase 2 substrate
  12. NM_001350764.2NP_001337693.1  ribosome biogenesis protein C1orf109 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AK000515, BC018109, DA608785, DA709845, HY118696
    Conserved Domains (1) summary
    pfam15011
    Location:13151
    CK2S; Casein Kinase 2 substrate
  13. NM_001350765.2NP_001337694.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA709845, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  14. NM_001350766.2NP_001337695.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  15. NM_001350767.2NP_001337696.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DB002412, DB003989
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  16. NM_001350768.2NP_001337697.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA707995
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Related
    ENSP00000477011.1, ENST00000491981.5
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  17. NM_001350769.2NP_001337698.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA608785, DA709845
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Related
    ENSP00000477159.1, ENST00000464085.5
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  18. NM_001350770.2NP_001337699.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, AK000515, BC018109, DA472787, DA608785, DA709845
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Related
    ENSP00000476779.2, ENST00000486637.2
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  19. NM_001350771.2NP_001337700.1  ribosome biogenesis protein C1orf109 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA307727, BC018109, DA608785, HY118696
    Consensus CDS
    CCDS423.1
    UniProtKB/Swiss-Prot
    Q8WVD1
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate
  20. NM_017850.3NP_060320.1  ribosome biogenesis protein C1orf109 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
    Q8WVD1, Q9NX04
    Related
    ENSP00000350704.4, ENST00000358011.8
    Conserved Domains (1) summary
    pfam15011
    Location:13167
    CK2S; Casein Kinase 2 substrate

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011541639.2XP_011539941.1  uncharacterized protein C1orf109 isoform X2

    See identical proteins and their annotated locations for XP_011539941.1

    Conserved Domains (1) summary
    pfam15011
    Location:75213
    CK2S; Casein Kinase 2 substrate
  2. XM_011541638.2XP_011539940.1  uncharacterized protein C1orf109 isoform X1

    See identical proteins and their annotated locations for XP_011539940.1

    Conserved Domains (1) summary
    pfam15011
    Location:76214
    CK2S; Casein Kinase 2 substrate
  3. XM_011541637.2XP_011539939.1  uncharacterized protein C1orf109 isoform X1

    See identical proteins and their annotated locations for XP_011539939.1

    Conserved Domains (1) summary
    pfam15011
    Location:76214
    CK2S; Casein Kinase 2 substrate
  4. XM_047423499.1XP_047279455.1  uncharacterized protein C1orf109 isoform X1

  5. XM_005270980.1XP_005271037.1  uncharacterized protein C1orf109 isoform X3

    See identical proteins and their annotated locations for XP_005271037.1

    Conserved Domains (1) summary
    pfam15011
    Location:13151
    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)