U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C1orf105 chromosome 1 open reading frame 105 [ Homo sapiens (human) ]

Gene ID: 92346, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
C1orf105provided by HGNC
Official Full Name
chromosome 1 open reading frame 105provided by HGNC
Primary source
HGNC:HGNC:29591
See related
Ensembl:ENSG00000180999 AllianceGenome:HGNC:29591
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
Expression
Biased expression in testis (RPKM 3.1), heart (RPKM 0.4) and 1 other tissue See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (172420685..172468829)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171777398..171825503)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (172389825..172437969)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dynamin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2088 Neighboring gene microRNA 199a-2 Neighboring gene DNM3 opposite strand/antisense RNA Neighboring gene MPRA-validated peak456 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:172247487-172248141 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:172300102-172300228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2090 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:172329514-172330140 Neighboring gene uncharacterized LOC102724528 Neighboring gene RNA, U6 small nuclear 157, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:172397968-172398490 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:172413041-172413564 Neighboring gene Sharpr-MPRA regulatory region 10840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466106-172466606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466607-172467107 Neighboring gene Sharpr-MPRA regulatory region 5023 Neighboring gene Sharpr-MPRA regulatory region 3225 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172539927-172540926 Neighboring gene SUN domain containing ossification factor Neighboring gene RNA, U6 small nuclear 693, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
  2. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized protein C1orf105

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001300760.1 → NP_001287689.1  uncharacterized protein C1orf105 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks multiple 5' coding exons, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    Z97195
    Consensus CDS
    CCDS72983.1
    UniProtKB/TrEMBL
    Q5R3C7
    Related
    ENSP00000356698.4, ENST00000367725.4
    Conserved Domains (1) summary
    pfam15081
    Location:6 → 172
    DUF4548; Domain of unknown function (DUF4548)

  2. NM_139240.4 → NP_640333.3  uncharacterized protein C1orf105 isoform 1

    See identical proteins and their annotated locations for NP_640333.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL035295, Z97195
    Consensus CDS
    CCDS1301.1
    UniProtKB/Swiss-Prot
    O95561, Q8IY02
    Related
    ENSP00000356700.4, ENST00000367727.9
    Conserved Domains (1) summary
    pfam15081
    Location:17 → 182
    DUF4548; Domain of unknown function (DUF4548)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    172420685..172468829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510152.3 → XP_011508454.1  uncharacterized protein C1orf105 isoform X1

    Conserved Domains (1) summary
    pfam15081
    Location:44 → 209
    DUF4548; Domain of unknown function (DUF4548)

  2. XM_011510153.3 → XP_011508455.1  uncharacterized protein C1orf105 isoform X3

    Conserved Domains (1) summary
    pfam15081
    Location:13 → 178
    DUF4548; Domain of unknown function (DUF4548)

  3. XM_011510154.3 → XP_011508456.1  uncharacterized protein C1orf105 isoform X4

    See identical proteins and their annotated locations for XP_011508456.1

    Conserved Domains (1) summary
    pfam15081
    Location:1 → 131
    DUF4548; Domain of unknown function (DUF4548)

  4. XM_011510156.3 → XP_011508458.1  uncharacterized protein C1orf105 isoform X5

    Conserved Domains (1) summary
    pfam15081
    Location:7 → 123
    DUF4548; Domain of unknown function (DUF4548)

  5. XM_005245608.4 → XP_005245665.1  uncharacterized protein C1orf105 isoform X2

    Conserved Domains (1) summary
    pfam15081
    Location:17 → 182
    DUF4548; Domain of unknown function (DUF4548)

  6. XM_005245610.5 → XP_005245667.1  uncharacterized protein C1orf105 isoform X4

    See identical proteins and their annotated locations for XP_005245667.1

    Conserved Domains (1) summary
    pfam15081
    Location:1 → 131
    DUF4548; Domain of unknown function (DUF4548)

  7. XM_006711630.3 → XP_006711693.1  uncharacterized protein C1orf105 isoform X6

    Conserved Domains (1) summary
    pfam15081
    Location:8 → 123
    DUF4548; Domain of unknown function (DUF4548)

  8. XM_017002808.1 → XP_016858297.1  uncharacterized protein C1orf105 isoform X4

    Conserved Domains (1) summary
    pfam15081
    Location:1 → 131
    DUF4548; Domain of unknown function (DUF4548)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    171777398..171825503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339619.1 → XP_054195594.1  uncharacterized protein C1orf105 isoform X1

  2. XM_054339621.1 → XP_054195596.1  uncharacterized protein C1orf105 isoform X3

  3. XM_054339624.1 → XP_054195599.1  uncharacterized protein C1orf105 isoform X4

  4. XM_054339625.1 → XP_054195600.1  uncharacterized protein C1orf105 isoform X5

  5. XM_054339620.1 → XP_054195595.1  uncharacterized protein C1orf105 isoform X2

  6. XM_054339623.1 → XP_054195598.1  uncharacterized protein C1orf105 isoform X4

  7. XM_054339622.1 → XP_054195597.1  uncharacterized protein C1orf105 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95561.1 GenPept UniProtKB/Swiss-Prot:O95561

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous