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    C1orf198 chromosome 1 open reading frame 198 [ Homo sapiens (human) ]

    Gene ID: 84886, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C1orf198provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 198provided by HGNC
    Primary source
    HGNC:HGNC:25900
    See related
    Ensembl:ENSG00000119280 AllianceGenome:HGNC:25900
    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. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 42.9), brain (RPKM 27.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf198 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (230837119..230869591, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230217591..230250079, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (230972865..231005337, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 79 Neighboring gene uncharacterized LOC124904548 Neighboring gene VISTA enhancer hs1766 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:230990988-230992187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231004239-231004830 Neighboring gene uncharacterized LOC101927604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231012485-231012986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231012987-231013486 Neighboring gene uncharacterized LOC124904547 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:231024325-231024499 Neighboring gene uncharacterized LOC105373167 Neighboring gene RNA, 7SL, cytoplasmic 837, 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
    • 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. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
    2. High Throughput Chemical Screening Reveals Multiple Regulatory Proteins on FOXA1 in Breast Cancer Cell Lines. Wang S, et al. Int J Mol Sci, 2018 Dec 19. PMID 30572598, Free PMC Article
    3. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. Hunter MR, et al. J Mol Biol, 2018 Jul 6. PMID 29778605, Free PMC Article
    4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Gevaert K, et al. Nat Biotechnol, 2003 May. PMID 12665801
    5. Proximity labeling reveals dynamic changes in the SQSTM1 protein network. Rondón-Ortiz AN, et al. J Biol Chem, 2024 Sep. PMID 39098523, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14525, FLJ16283, FLJ38847, MGC10710, DKFZp667D152

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C1orf198

    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_001136494.2 → NP_001129966.1  uncharacterized protein C1orf198 isoform 2

      See identical proteins and their annotated locations for NP_001129966.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK096166, AL118511, BC066649
      Consensus CDS
      CCDS44330.1
      UniProtKB/Swiss-Prot
      Q9H425
      Related
      ENSP00000428172.1, ENST00000470540.5
      Conserved Domains (1) summary
      pfam15797
      Location:1 → 93
      DUF4706; Domain of unknown function (DUF4706)

    2. NM_001136495.2 → NP_001129967.1  uncharacterized protein C1orf198 isoform 3

      See identical proteins and their annotated locations for NP_001129967.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK292433, BC066649, DA333501
      Consensus CDS
      CCDS44331.1
      UniProtKB/Swiss-Prot
      Q9H425
      Related
      ENSP00000430967.1, ENST00000523410.1

    3. NM_032800.3 → NP_116189.1  uncharacterized protein C1orf198 isoform 1

      See identical proteins and their annotated locations for NP_116189.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL118511
      Consensus CDS
      CCDS1587.1
      UniProtKB/Swiss-Prot
      A8K8R8, B3KTW1, G5EA08, Q9H425
      Related
      ENSP00000355623.5, ENST00000366663.10
      Conserved Domains (1) summary
      pfam15797
      Location:31 → 131
      DUF4706; Domain of unknown function (DUF4706)

    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
      230837119..230869591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432496.1 → XP_047288452.1  uncharacterized protein C1orf198 isoform X2

    2. XM_047432495.1 → XP_047288451.1  uncharacterized protein C1orf198 isoform X1

    3. XM_017002599.3 → XP_016858088.1  uncharacterized protein C1orf198 isoform X4

      UniProtKB/Swiss-Prot
      Q9H425

    4. XM_047432504.1 → XP_047288460.1  uncharacterized protein C1orf198 isoform X4

    5. XM_047432497.1 → XP_047288453.1  uncharacterized protein C1orf198 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      230217591..230250079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339266.1 → XP_054195241.1  uncharacterized protein C1orf198 isoform X2

    2. XM_054339265.1 → XP_054195240.1  uncharacterized protein C1orf198 isoform X1

    3. XM_054339267.1 → XP_054195242.1  uncharacterized protein C1orf198 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H425.1 GenPept UniProtKB/Swiss-Prot:Q9H425

    Gene LinkOut

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

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