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    FAM98A family with sequence similarity 98 member A [ Homo sapiens (human) ]

    Gene ID: 25940, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM98Aprovided by HGNC
    Official Full Name
    family with sequence similarity 98 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24520
    See related
    Ensembl:ENSG00000119812 MIM:620904; AllianceGenome:HGNC:24520
    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
    Enables protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 38.2), brain (RPKM 16.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM98A in Genome Data Viewer
    Location:
    2p22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (33583660..33599299, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (33629816..33645413, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (33808727..33824366, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 4430 Neighboring gene RAS guanyl releasing protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11349 Neighboring gene RASGRP3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:33808516-33809335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15571 Neighboring gene uncharacterized LOC105374455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15573 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:33832515-33833401 Neighboring gene ATPase H+ transporting V0 subunit e1 pseudogene 3 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 61

    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. A divergent calponin homology (NN-CH) domain defines a novel family: implications for evolution of ciliary IFT complex B proteins. Schou KB, et al. Bioinformatics, 2014 Apr 1. PMID 24257188
    2. FAM98A promotes cancer progression in endometrial carcinoma. Li Z, et al. Mol Cell Biochem, 2019 Sep. PMID 31114934
    3. FAM98A is localized to stress granules and associates with multiple stress granule-localized proteins. Ozeki K, et al. Mol Cell Biochem, 2019 Jan. PMID 29992460
    4. Circular RNA intraflagellar transport 80 facilitates endometrial cancer progression through modulating miR-545-3p/FAM98A signaling. Wang N, et al. J Gynecol Oncol, 2022 Jan. PMID 34783205, Free PMC Article
    5. FAM98A is a novel substrate of PRMT1 required for tumor cell migration, invasion, and colony formation. Akter KA, et al. Tumour Biol, 2016 Apr. PMID 26503212

    See all (119) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA intraflagellar transport 80 facilitates endometrial cancer progression through modulating miR-545-3p/FAM98A signaling.
      Title: Circular RNA intraflagellar transport 80 facilitates endometrial cancer progression through modulating miR-545-3p/FAM98A signaling.
    2. Mechanistically, it was demonstrated that miR-142-3p directly targeted FAM98A, and modulated its expression.
      Title: FAM98A promotes cancer progression in endometrial carcinoma.
    3. the two structural homologs FAM98A and FAM98B included in a novel complex with DDX1 and C14orf166 are required for PRMT1 expression in colorectal cancer cell lines
      Title: FAM98A associates with DDX1-C14orf166-FAM98B in a novel complex involved in colorectal cancer progression.
    4. FAM98A is expressed in numerous ovarian cancer cell lines and is important for the malignant characteristics of ovarian cancer cells.
      Title: FAM98A is a novel substrate of PRMT1 required for tumor cell migration, invasion, and colony formation.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat is identified to have a physical interaction with family with sequence similarity 98, member A (FAM98A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564F0522, DKFZp686O03192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein methylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA splicing, via endonucleolytic cleavage and ligation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of tRNA-splicing ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of tRNA-splicing ligase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM98A

    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_001304538.2 → NP_001291467.1  protein FAM98A isoform 2

      See identical proteins and their annotated locations for NP_001291467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC017050, AK300023, BC060860, DA310995
      Consensus CDS
      CCDS92735.1
      UniProtKB/TrEMBL
      B4DT23, B4DY25
      Related
      ENSP00000510695.1, ENST00000690423.1
      Conserved Domains (1) summary
      pfam10239
      Location:2 → 132
      DUF2465; Protein of unknown function (DUF2465)

    2. NM_015475.5 → NP_056290.3  protein FAM98A isoform 1

      See identical proteins and their annotated locations for NP_056290.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC017050, BC060860, BC136768, DA310995
      Consensus CDS
      CCDS33179.1
      UniProtKB/Swiss-Prot
      B2RNA2, Q8NCA5, Q9Y3Y6
      UniProtKB/TrEMBL
      I6L9E8
      Related
      ENSP00000238823.8, ENST00000238823.13
      Conserved Domains (1) summary
      pfam10239
      Location:11 → 328
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      33583660..33599299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      33629816..33645413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCA5.2 GenPept UniProtKB/Swiss-Prot:Q8NCA5

    Gene LinkOut

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

    Chemical Information
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