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    CCDC198 coiled-coil domain containing 198 [ Homo sapiens (human) ]

    Gene ID: 55195, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC198provided by HGNC
    Official Full Name
    coiled-coil domain containing 198provided by HGNC
    Primary source
    HGNC:HGNC:20189
    See related
    Ensembl:ENSG00000100557 AllianceGenome:HGNC:20189
    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
    FAME; C14orf105
    Summary
    Predicted to be involved in energy homeostasis. Predicted to be part of cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 18.4), gall bladder (RPKM 5.9) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC198 in Genome Data Viewer
    Location:
    14q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (57469300..57493857, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (51675743..51700299, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (57936018..57960575, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57735423-57736006 Neighboring gene adaptor related protein complex 5 subunit mu 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57810066-57810610 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57831098-57831989 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:57849692-57850526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:57857288-57858283 Neighboring gene N-alpha-acetyltransferase 30, NatC catalytic subunit Neighboring gene uncharacterized LOC105370519 Neighboring gene uncharacterized LOC105370518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:58047958-58049157 Neighboring gene solute carrier family 35 member F4 Neighboring gene serine and arginine rich splicing factor 10 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. Human sperm proteins identified by 2-dimensional electrophoresis and mass spectrometry and their relevance to a transcriptomic analysis. Nowicka-Bauer K, et al. Reprod Biol, 2018 Jun. PMID 29526398
    2. A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology. Petersen J, et al. Nat Commun, 2023 May 29. PMID 37248239, Free PMC Article
    3. Novel Potential Biomarkers for Opisthorchis viverrini Infection and Associated Cholangiocarcinoma. Aksorn N, et al. In Vivo, 2018 Jul-Aug. PMID 29936472, Free PMC Article
    4. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
    5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article

    See all (17) 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

    • FLJ10650

    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 energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    factor associated with metabolism and energy
    Names
    Factor Associated with Metabolism and Energy
    uncharacterized protein C14orf105

    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.

    Genomic

    1. NG_054635.1 RefSeqGene

      Range
      5124..29681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001283056.2 → NP_001269985.1  factor associated with metabolism and energy isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK001512, AK223127, AL355834, BC143567, BX470593
      Consensus CDS
      CCDS61459.1
      UniProtKB/TrEMBL
      B7ZL43, F5GWJ3
      Related
      ENSP00000392368.2, ENST00000422976.6
      Conserved Domains (1) summary
      pfam15398
      Location:1 → 336
      DUF4619; Domain of unknown function (DUF4619)

    2. NM_001283057.2 → NP_001269986.1  factor associated with metabolism and energy isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK001512, AK223127, AL355834, BC117405, BX470593
      Consensus CDS
      CCDS61458.1
      UniProtKB/TrEMBL
      B7ZL43, E9PSE9
      Related
      ENSP00000434003.1, ENST00000534126.5
      Conserved Domains (1) summary
      pfam15398
      Location:1 → 295
      DUF4619; Domain of unknown function (DUF4619)

    3. NM_001283058.2 → NP_001269987.1  factor associated with metabolism and energy isoform 4

      See identical proteins and their annotated locations for NP_001269987.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon and uses an alternate splice site in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AK001512, AK223127, AL355834, BC143565, BX470593
      UniProtKB/Swiss-Prot
      Q9NVL8
      Conserved Domains (1) summary
      pfam15398
      Location:15 → 207
      DUF4619; Domain of unknown function (DUF4619)

    4. NM_001283059.2 → NP_001269988.1  factor associated with metabolism and energy isoform 4

      See identical proteins and their annotated locations for NP_001269988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an exon and uses an alternate splice site in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AK001512, AK223127, AL355834, BC143568, BX470593
      UniProtKB/Swiss-Prot
      Q9NVL8
      Conserved Domains (1) summary
      pfam15398
      Location:15 → 207
      DUF4619; Domain of unknown function (DUF4619)

    5. NM_001283060.2 → NP_001269989.1  factor associated with metabolism and energy isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains multiple differences in the UTRs and in the coding region, compared to variant 1. It initiates translation at an in-frame downstream start codon. The encoded isoform (5) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI733133, AL355834, BC028060
      UniProtKB/TrEMBL
      Q05C89
      Conserved Domains (1) summary
      pfam15398
      Location:1 → 140
      DUF4619; Domain of unknown function (DUF4619)

    6. NM_018168.4 → NP_060638.2  factor associated with metabolism and energy isoform 2

      See identical proteins and their annotated locations for NP_060638.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK001512, AK223127, AL355834, BX470593
      Consensus CDS
      CCDS9730.1
      UniProtKB/Swiss-Prot
      Q17R99, Q53G04, Q9NVL8
      UniProtKB/TrEMBL
      B7ZL43
      Related
      ENSP00000216445.3, ENST00000216445.8
      Conserved Domains (1) summary
      pfam15398
      Location:1 → 296
      DUF4619; Domain of unknown function (DUF4619)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      57469300..57493857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431523.1 → XP_047287479.1  factor associated with metabolism and energy isoform X2

    2. XM_047431522.1 → XP_047287478.1  factor associated with metabolism and energy isoform X1

    3. XM_005267811.4 → XP_005267868.1  factor associated with metabolism and energy isoform X9

      Conserved Domains (1) summary
      pfam15398
      Location:15 → 208
      DUF4619; Domain of unknown function (DUF4619)

    4. XM_047431524.1 → XP_047287480.1  factor associated with metabolism and energy isoform X3

    5. XM_047431529.1 → XP_047287485.1  factor associated with metabolism and energy isoform X8

    6. XM_047431526.1 → XP_047287482.1  factor associated with metabolism and energy isoform X5

    7. XM_047431528.1 → XP_047287484.1  factor associated with metabolism and energy isoform X7

    8. XM_047431525.1 → XP_047287481.1  factor associated with metabolism and energy isoform X4

    9. XM_047431527.1 → XP_047287483.1  factor associated with metabolism and energy isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      51675743..51700299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376295.1 → XP_054232270.1  factor associated with metabolism and energy isoform X2

    2. XM_054376294.1 → XP_054232269.1  factor associated with metabolism and energy isoform X1

    3. XM_054376296.1 → XP_054232271.1  factor associated with metabolism and energy isoform X3

    4. XM_054376301.1 → XP_054232276.1  factor associated with metabolism and energy isoform X8

    5. XM_054376298.1 → XP_054232273.1  factor associated with metabolism and energy isoform X5

    6. XM_054376300.1 → XP_054232275.1  factor associated with metabolism and energy isoform X7

    7. XM_054376297.1 → XP_054232272.1  factor associated with metabolism and energy isoform X4

    8. XM_054376299.1 → XP_054232274.1  factor associated with metabolism and energy isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVL8.2 GenPept UniProtKB/Swiss-Prot:Q9NVL8

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