FASTKD3 FAST kinase domains 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FASTKD3provided by HGNC
Official Full Name: FAST kinase domains 3provided by HGNC
Primary source: HGNC:HGNC:28758
See related: Ensembl:ENSG00000124279 MIM:617530; AllianceGenome:HGNC:28758
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in kidney (RPKM 3.9), lymph node (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (7859159..7869031, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (7798283..7808155, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (7859272..7869144, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism.
Title: The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.
FASTKD3 is required for efficient COX1 mRNA translation without altering mRNA levels, which results in a decrease in the steady-state levels of COX1 protein.
Title: Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression.
these results introduce FASTKD3 as an essential component of mitochondrial respiration that may modulate energy balance in cells exposed to adverse conditions by functionally coupling mitochondrial protein synthesis to respiration.
Title: Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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

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

RH91136 (e-PCR)
- UniSTS:92513

RH65313 (e-PCR)
- UniSTS:2950

NoName (e-PCR)
- UniSTS:485521

D5S1941 (e-PCR)
- UniSTS:154271

G06190 (e-PCR)
- UniSTS:39871

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial RNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial translation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial mRNA stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial mRNA stability	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in ribonucleoprotein granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: FAST kinase domain-containing protein 3, mitochondrial

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

NG_033101.1 RefSeqGene

Range

5007..14879

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024091.4 → NP_076996.2 FAST kinase domain-containing protein 3, mitochondrial

See identical proteins and their annotated locations for NP_076996.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longest transcript and encodes the protein.

Source sequence(s)

AK026927, BC001295, BP317791, BQ921348, DA297400

Consensus CDS

CCDS3873.1

UniProtKB/Swiss-Prot

Q14CZ7, Q9BVD3

Related

ENSP00000264669.5, ENST00000264669.10

Conserved Domains (3) summary

smart00952
Location:593 → 650

RAP; This domain is found in various eukaryotic species, particularly in apicomplexans

pfam06743
Location:409 → 477

FAST_1; FAST kinase-like protein, subdomain 1

pfam08368
Location:493 → 579

FAST_2; FAST kinase-like protein, subdomain 2

RNA

NR_036553.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) omits the first coding exon, compared to variant 1. The transcript is predicted to be non-coding because the next available AUG does not appear to be in a favorable context and would result in a severely N-terminally truncated protein. Therefore a coding sequence is not annotated.

Source sequence(s)

AF161354, AK026927, BC001295, DA297400
NR_073608.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) omits the first coding exon and uses an alternate splice site in a downstream exon, compared to variant 1. The transcript is predicted to be non-coding because the next available AUG does not appear to be in a favorable context and would result in a severely N-terminally truncated protein. Therefore a coding sequence is not annotated.

Source sequence(s)

BC001295, BG613096, DA297400

Related

ENST00000513658.5

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

7859159..7869031 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714498.2 → XP_006714561.1 FAST kinase domain-containing protein 3, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_006714561.1

UniProtKB/Swiss-Prot

Q14CZ7, Q9BVD3

Conserved Domains (3) summary

smart00952
Location:593 → 650

RAP; This domain is found in various eukaryotic species, particularly in apicomplexans

pfam06743
Location:409 → 477

FAST_1; FAST kinase-like protein, subdomain 1

pfam08368
Location:493 → 579

FAST_2; FAST kinase-like protein, subdomain 2
XM_047417699.1 → XP_047273655.1 FAST kinase domain-containing protein 3, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q14CZ7, Q9BVD3
XM_047417700.1 → XP_047273656.1 FAST kinase domain-containing protein 3, mitochondrial isoform X2

UniProtKB/TrEMBL

D6RAR6

Related

ENSP00000421798.1, ENST00000507036.1

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

7798283..7808155 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353439.1 → XP_054209414.1 FAST kinase domain-containing protein 3, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q14CZ7, Q9BVD3
XM_054353440.1 → XP_054209415.1 FAST kinase domain-containing protein 3, mitochondrial isoform X2

UniProtKB/TrEMBL

D6RAR6