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    FAM98C family with sequence similarity 98 member C [ Homo sapiens (human) ]

    Gene ID: 147965, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM98Cprovided by HGNC
    Official Full Name
    family with sequence similarity 98 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:27119
    See related
    Ensembl:ENSG00000130244 AllianceGenome:HGNC:27119
    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
    Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 5.6), stomach (RPKM 5.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See FAM98C in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38403093..38409088)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41205269..41211264)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38893733..38899728)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10571 Neighboring gene Sharpr-MPRA regulatory region 13764 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38890799-38890957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10573 Neighboring gene sprouty related EVH1 domain containing 3 Neighboring gene gametogenetin Neighboring gene RAS guanyl releasing protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38917687-38918201 Neighboring gene MPRA-validated peak3471 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10575 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38925085-38925660 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38932363-38932538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38932982-38933942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38943427-38943954 Neighboring gene MPRA-validated peak3472 silencer Neighboring gene ryanodine receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38953733-38954234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38954745-38955341 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38969337-38969680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38986475-38987366 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:38995830-38997029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14573 Neighboring gene uncharacterized LOC124904710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10577 Neighboring gene MPRA-validated peak3473 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39070191-39070692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39087374-39087874 Neighboring gene MAP4K1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1

    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. Characterizing the morbid genome of ciliopathies. Shaheen R, et al. Genome Biol, 2016 Nov 28. PMID 27894351, Free PMC Article
    2. Exploring an Alternative Cysteine-Reactive Chemistry to Enable Proteome-Wide PPI Analysis by Cross-Linking Mass Spectrometry. Jiao F, et al. Anal Chem, 2023 Jan 31. PMID 36652389, Free PMC Article
    3. High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies. Youn JY, et al. Mol Cell, 2018 Feb 1. PMID 29395067
    4. ALS-linked loss of Cyclin-F function affects HSP90. Siebert A, et al. Life Sci Alliance, 2022 Sep 16. PMID 36114006, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (10) 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

    • FLJ44669

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of tRNA-splicing ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM98C

    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_054925.1 RefSeqGene

      Range
      4970..10961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351675.1 → NP_001338604.1  protein FAM98C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC036482, BC080606, BC143830
      Consensus CDS
      CCDS86763.1
      Related
      ENSP00000340348.6, ENST00000343358.11
      Conserved Domains (1) summary
      pfam10239
      Location:18 → 252
      DUF2465; Protein of unknown function (DUF2465)

    2. NM_174905.4 → NP_777565.3  protein FAM98C isoform 1

      See identical proteins and their annotated locations for NP_777565.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005789
      Consensus CDS
      CCDS42562.1
      UniProtKB/Swiss-Prot
      A6NMW3, Q17RN3, Q66K45
      UniProtKB/TrEMBL
      B7ZLI5
      Related
      ENSP00000252530.4, ENST00000252530.10
      Conserved Domains (1) summary
      pfam10239
      Location:18 → 334
      DUF2465; Protein of unknown function (DUF2465)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38403093..38409088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026354.2 → XP_016881843.1  protein FAM98C isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41205269..41211264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319932.1 → XP_054175907.1  protein FAM98C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RN3.1 GenPept UniProtKB/Swiss-Prot:Q17RN3

    Gene LinkOut

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

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