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

    Gene ID: 92346, updated on 19-Sep-2024

    Summary

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    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
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    Genomic context

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    See C1orf105 in Genome Data Viewer
    Location:
    1q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (172420685..172468829)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171777398..171825503)
    RS_2024_09 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

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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. 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

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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

    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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    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

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    Preferred Names
    uncharacterized protein C1orf105

    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_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_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
      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

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