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

Summary

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, Dec 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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Mechanistically, it was demonstrated that miR-142-3p directly targeted FAM98A, and modulated its expression.
Title: FAM98A promotes cancer progression in endometrial carcinoma.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

SHGC-33436 (e-PCR)
- UniSTS:68452

SHGC-78874 (e-PCR)
- UniSTS:95718

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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)
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)