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

Gene ID: 55195, updated on 3-Apr-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
Expression
Biased expression in kidney (RPKM 18.4), gall bladder (RPKM 5.9) and 2 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (57469300..57493857, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (51675743..51700299, complement)
105.20220307 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 (16) 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)

Genotypes

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; uncharacterized protein CCDC198
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_2023_10

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  uncharacterized protein CCDC198 isoform X2

  2. XM_047431522.1 → XP_047287478.1  uncharacterized protein CCDC198 isoform X1

  3. XM_005267811.4 → XP_005267868.1  uncharacterized protein CCDC198 isoform X9

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

  4. XM_047431524.1 → XP_047287480.1  uncharacterized protein CCDC198 isoform X3

  5. XM_047431529.1 → XP_047287485.1  uncharacterized protein CCDC198 isoform X8

  6. XM_047431526.1 → XP_047287482.1  uncharacterized protein CCDC198 isoform X5

  7. XM_047431528.1 → XP_047287484.1  uncharacterized protein CCDC198 isoform X7

  8. XM_047431525.1 → XP_047287481.1  uncharacterized protein CCDC198 isoform X4

  9. XM_047431527.1 → XP_047287483.1  uncharacterized protein CCDC198 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  uncharacterized protein CCDC198 isoform X2

  2. XM_054376294.1 → XP_054232269.1  uncharacterized protein CCDC198 isoform X1

  3. XM_054376296.1 → XP_054232271.1  uncharacterized protein CCDC198 isoform X3

  4. XM_054376301.1 → XP_054232276.1  uncharacterized protein CCDC198 isoform X8

  5. XM_054376298.1 → XP_054232273.1  uncharacterized protein CCDC198 isoform X5

  6. XM_054376300.1 → XP_054232275.1  uncharacterized protein CCDC198 isoform X7

  7. XM_054376297.1 → XP_054232272.1  uncharacterized protein CCDC198 isoform X4

  8. XM_054376299.1 → XP_054232274.1  uncharacterized protein CCDC198 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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