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Protein

FAST kinase domain-containing protein 2, mitochondrial

Gene

FASTKD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • protein kinase activity Source: InterPro
  • rRNA binding Source: UniProtKB

GO - Biological processi

  • cellular respiration Source: UniProtKB
  • mitochondrial large ribosomal subunit assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ribosome biogenesis

Keywords - Ligandi

RNA-binding, rRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
FAST kinase domain-containing protein 2, mitochondrial
Gene namesi
Name:FASTKD2
Synonyms:KIAA0971
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29160. FASTKD2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial nucleoid Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • ribonucleoprotein granule Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Organism-specific databases

DisGeNETi22868.
MalaCardsiFASTKD2.
OpenTargetsiENSG00000118246.
Orphaneti166105. FASTKD2-related infantile mitochondrial encephalomyopathy.
254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA134974924.

Polymorphism and mutation databases

BioMutaiFASTKD2.
DMDMi74734717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000050783? – 710FAST kinase domain-containing protein 2, mitochondrial
Transit peptidei1 – ?MitochondrionCurated

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei126PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Modified residuei708PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NYY8.
MaxQBiQ9NYY8.
PaxDbiQ9NYY8.
PeptideAtlasiQ9NYY8.
PRIDEiQ9NYY8.

PTM databases

iPTMnetiQ9NYY8.
PhosphoSitePlusiQ9NYY8.

Expressioni

Tissue specificityi

Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart, smooth muscle and thyroid.1 Publication

Gene expression databases

BgeeiENSG00000118246.
CleanExiHS_FASTKD2.
ExpressionAtlasiQ9NYY8. baseline and differential.
GenevisibleiQ9NYY8. HS.

Organism-specific databases

HPAiHPA067191.

Interactioni

Subunit structurei

Monomer. Found in a complex with GRSF1, DDX28, DHX30 and FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA).1 Publication

Protein-protein interaction databases

BioGridi116535. 23 interactors.
IntActiQ9NYY8. 5 interactors.
MINTiMINT-8051813.
STRINGi9606.ENSP00000236980.

Structurei

3D structure databases

ProteinModelPortaliQ9NYY8.
SMRiQ9NYY8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini634 – 691RAPPROSITE-ProRule annotationAdd BLAST58

Sequence similaritiesi

Belongs to the FAST kinase family.Curated
Contains 1 RAP domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IH1K. Eukaryota.
ENOG410ZQHV. LUCA.
GeneTreeiENSGT00510000048773.
HOGENOMiHOG000112491.
HOVERGENiHBG081516.
InParanoidiQ9NYY8.
KOiK18190.
OMAiFDIWKLK.
OrthoDBiEOG091G0WV6.
PhylomeDBiQ9NYY8.
TreeFamiTF352875.

Family and domain databases

InterProiIPR013579. FAST_2.
IPR010622. FAST_Leu-rich.
IPR013584. RAP.
[Graphical view]
PfamiPF06743. FAST_1. 1 hit.
PF08368. FAST_2. 1 hit.
PF08373. RAP. 1 hit.
[Graphical view]
SMARTiSM00952. RAP. 1 hit.
[Graphical view]
PROSITEiPS51286. RAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NYY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLTTLKPFGS VSVESKMNNK AGSFFWNLRQ FSTLVSTSRT MRLCCLGLCK
60 70 80 90 100
PKIVHSNWNI LNNFHNRMQS TDIIRYLFQD AFIFKSDVGF QTKGISTLTA
110 120 130 140 150
LRIERLLYAK RLFFDSKQSL VPVDKSDDEL KKVNLNHEVS NEDVLTKETK
160 170 180 190 200
PNRISSRKLS EECNSLSDVL DAFSKAPTFP SSNYFTAMWT IAKRLSDDQK
210 220 230 240 250
RFEKRLMFSH PAFNQLCEHM MREAKIMQYK YLLFSLHAIV KLGIPQNTIL
260 270 280 290 300
VQTLLRVTQE RINECDEICL SVLSTVLEAM EPCKNVHVLR TGFRILVDQQ
310 320 330 340 350
VWKIEDVFTL QVVMKCIGKD APIALKRKLE MKALRELDRF SVLNSQHMFE
360 370 380 390 400
VLAAMNHRSL ILLDECSKVV LDNIHGCPLR IMINILQSCK DLQYHNLDLF
410 420 430 440 450
KGLADYVAAT FDIWKFRKVL FILILFENLG FRPVGLMDLF MKRIVEDPES
460 470 480 490 500
LNMKNILSIL HTYSSLNHVY KCQNKEQFVE VMASALTGYL HTISSENLLD
510 520 530 540 550
AVYSFCLMNY FPLAPFNQLL QKDIISELLT SDDMKNAYKL HTLDTCLKLD
560 570 580 590 600
DTVYLRDIAL SLPQLPRELP SSHTNAKVAE VLSSLLGGEG HFSKDVHLPH
610 620 630 640 650
NYHIDFEIRM DTNRNQVLPL SDVDTTSATD IQRVAVLCVS RSAYCLGSSH
660 670 680 690 700
PRGFLAMKMR HLNAMGFHVI LVNNWEMDKL EMEDAVTFLK TKIYSVEALP
710
VAAVNVQSTQ
Length:710
Mass (Da):81,463
Last modified:October 1, 2000 - v1
Checksum:i11BF1D5A0CF1DA15
GO
Isoform 2 (identifier: Q9NYY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     634-648: VAVLCVSRSAYCLGS → LLTYISFAGLSELKS
     649-710: Missing.

Show »
Length:648
Mass (Da):74,536
Checksum:i603D468791E4A804
GO

Sequence cautioni

The sequence BAA76815 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91617 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05388915S → N.Corresponds to variant rs3762568dbSNPEnsembl.1
Natural variantiVAR_053890445V → E.Corresponds to variant rs13003768dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017186634 – 648VAVLC…YCLGS → LLTYISFAGLSELKS in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_017187649 – 710Missing in isoform 2. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023188 mRNA. Translation: BAA76815.2. Different initiation.
AF223470 mRNA. Translation: AAF64145.1.
AL833877 mRNA. Translation: CAD38734.1.
AC008269 Genomic DNA. Translation: AAX93275.1.
BC001544 mRNA. Translation: AAH01544.1.
AK001315 mRNA. Translation: BAA91617.1. Different initiation.
CCDSiCCDS2371.1. [Q9NYY8-1]
RefSeqiNP_001129665.1. NM_001136193.1. [Q9NYY8-1]
NP_001129666.1. NM_001136194.1. [Q9NYY8-1]
NP_055744.2. NM_014929.3. [Q9NYY8-1]
UniGeneiHs.5930.
Hs.722628.

Genome annotation databases

EnsembliENST00000236980; ENSP00000236980; ENSG00000118246. [Q9NYY8-1]
ENST00000402774; ENSP00000385990; ENSG00000118246. [Q9NYY8-1]
ENST00000403094; ENSP00000384929; ENSG00000118246. [Q9NYY8-1]
GeneIDi22868.
KEGGihsa:22868.
UCSCiuc002vbu.4. human. [Q9NYY8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023188 mRNA. Translation: BAA76815.2. Different initiation.
AF223470 mRNA. Translation: AAF64145.1.
AL833877 mRNA. Translation: CAD38734.1.
AC008269 Genomic DNA. Translation: AAX93275.1.
BC001544 mRNA. Translation: AAH01544.1.
AK001315 mRNA. Translation: BAA91617.1. Different initiation.
CCDSiCCDS2371.1. [Q9NYY8-1]
RefSeqiNP_001129665.1. NM_001136193.1. [Q9NYY8-1]
NP_001129666.1. NM_001136194.1. [Q9NYY8-1]
NP_055744.2. NM_014929.3. [Q9NYY8-1]
UniGeneiHs.5930.
Hs.722628.

3D structure databases

ProteinModelPortaliQ9NYY8.
SMRiQ9NYY8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116535. 23 interactors.
IntActiQ9NYY8. 5 interactors.
MINTiMINT-8051813.
STRINGi9606.ENSP00000236980.

PTM databases

iPTMnetiQ9NYY8.
PhosphoSitePlusiQ9NYY8.

Polymorphism and mutation databases

BioMutaiFASTKD2.
DMDMi74734717.

Proteomic databases

EPDiQ9NYY8.
MaxQBiQ9NYY8.
PaxDbiQ9NYY8.
PeptideAtlasiQ9NYY8.
PRIDEiQ9NYY8.

Protocols and materials databases

DNASUi22868.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236980; ENSP00000236980; ENSG00000118246. [Q9NYY8-1]
ENST00000402774; ENSP00000385990; ENSG00000118246. [Q9NYY8-1]
ENST00000403094; ENSP00000384929; ENSG00000118246. [Q9NYY8-1]
GeneIDi22868.
KEGGihsa:22868.
UCSCiuc002vbu.4. human. [Q9NYY8-1]

Organism-specific databases

CTDi22868.
DisGeNETi22868.
GeneCardsiFASTKD2.
HGNCiHGNC:29160. FASTKD2.
HPAiHPA067191.
MalaCardsiFASTKD2.
MIMi612322. gene.
neXtProtiNX_Q9NYY8.
OpenTargetsiENSG00000118246.
Orphaneti166105. FASTKD2-related infantile mitochondrial encephalomyopathy.
254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA134974924.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1K. Eukaryota.
ENOG410ZQHV. LUCA.
GeneTreeiENSGT00510000048773.
HOGENOMiHOG000112491.
HOVERGENiHBG081516.
InParanoidiQ9NYY8.
KOiK18190.
OMAiFDIWKLK.
OrthoDBiEOG091G0WV6.
PhylomeDBiQ9NYY8.
TreeFamiTF352875.

Miscellaneous databases

ChiTaRSiFASTKD2. human.
GenomeRNAii22868.
PROiQ9NYY8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118246.
CleanExiHS_FASTKD2.
ExpressionAtlasiQ9NYY8. baseline and differential.
GenevisibleiQ9NYY8. HS.

Family and domain databases

InterProiIPR013579. FAST_2.
IPR010622. FAST_Leu-rich.
IPR013584. RAP.
[Graphical view]
PfamiPF06743. FAST_1. 1 hit.
PF08368. FAST_2. 1 hit.
PF08373. RAP. 1 hit.
[Graphical view]
SMARTiSM00952. RAP. 1 hit.
[Graphical view]
PROSITEiPS51286. RAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFAKD2_HUMAN
AccessioniPrimary (citable) accession number: Q9NYY8
Secondary accession number(s): Q9NVX6, Q9Y2H7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-17 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.