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Q9NYY8

- FAKD2_HUMAN

UniProt

Q9NYY8 - FAKD2_HUMAN

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Protein
FAST kinase domain-containing protein 2
Gene
FASTKD2, KIAA0971
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB
  2. protein kinase activity Source: InterPro

GO - Biological processi

  1. cellular respiration Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
FAST kinase domain-containing protein 2
Gene namesi
Name:FASTKD2
Synonyms:KIAA0971
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:29160. FASTKD2.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 710710FAST kinase domain-containing protein 2
PRO_0000050783Add
BLAST

Proteomic databases

MaxQBiQ9NYY8.
PaxDbiQ9NYY8.
PRIDEiQ9NYY8.

PTM databases

PhosphoSiteiQ9NYY8.

Expressioni

Gene expression databases

ArrayExpressiQ9NYY8.
BgeeiQ9NYY8.
CleanExiHS_FASTKD2.
GenevestigatoriQ9NYY8.

Interactioni

Protein-protein interaction databases

BioGridi116535. 3 interactions.
IntActiQ9NYY8. 2 interactions.
MINTiMINT-8051813.
STRINGi9606.ENSP00000236980.

Structurei

3D structure databases

ProteinModelPortaliQ9NYY8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini634 – 69158RAP
Add
BLAST

Sequence similaritiesi

Belongs to the FAST kinase family.
Contains 1 RAP domain.

Phylogenomic databases

eggNOGiNOG71058.
HOGENOMiHOG000112491.
HOVERGENiHBG081516.
InParanoidiQ9NYY8.
KOiK18190.
OMAiINILQSC.
OrthoDBiEOG7TBC2C.
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.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MLTTLKPFGS VSVESKMNNK AGSFFWNLRQ FSTLVSTSRT MRLCCLGLCK    50
PKIVHSNWNI LNNFHNRMQS TDIIRYLFQD AFIFKSDVGF QTKGISTLTA 100
LRIERLLYAK RLFFDSKQSL VPVDKSDDEL KKVNLNHEVS NEDVLTKETK 150
PNRISSRKLS EECNSLSDVL DAFSKAPTFP SSNYFTAMWT IAKRLSDDQK 200
RFEKRLMFSH PAFNQLCEHM MREAKIMQYK YLLFSLHAIV KLGIPQNTIL 250
VQTLLRVTQE RINECDEICL SVLSTVLEAM EPCKNVHVLR TGFRILVDQQ 300
VWKIEDVFTL QVVMKCIGKD APIALKRKLE MKALRELDRF SVLNSQHMFE 350
VLAAMNHRSL ILLDECSKVV LDNIHGCPLR IMINILQSCK DLQYHNLDLF 400
KGLADYVAAT FDIWKFRKVL FILILFENLG FRPVGLMDLF MKRIVEDPES 450
LNMKNILSIL HTYSSLNHVY KCQNKEQFVE VMASALTGYL HTISSENLLD 500
AVYSFCLMNY FPLAPFNQLL QKDIISELLT SDDMKNAYKL HTLDTCLKLD 550
DTVYLRDIAL SLPQLPRELP SSHTNAKVAE VLSSLLGGEG HFSKDVHLPH 600
NYHIDFEIRM DTNRNQVLPL SDVDTTSATD IQRVAVLCVS RSAYCLGSSH 650
PRGFLAMKMR HLNAMGFHVI LVNNWEMDKL EMEDAVTFLK TKIYSVEALP 700
VAAVNVQSTQ 710
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 BAA76815.2 differs from that shown. Reason: Erroneous initiation.
The sequence BAA91617.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151S → N.
Corresponds to variant rs3762568 [ dbSNP | Ensembl ].
VAR_053889
Natural varianti445 – 4451V → E.
Corresponds to variant rs13003768 [ dbSNP | Ensembl ].
VAR_053890

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei634 – 64815VAVLC…YCLGS → LLTYISFAGLSELKS in isoform 2.
VSP_017186Add
BLAST
Alternative sequencei649 – 71062Missing in isoform 2.
VSP_017187Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q9NYY8-1]
uc002vbw.1. human. [Q9NYY8-2]

Polymorphism databases

DMDMi74734717.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS2371.1. [Q9NYY8-1 ]
RefSeqi NP_001129665.1. NM_001136193.1. [Q9NYY8-1 ]
NP_001129666.1. NM_001136194.1. [Q9NYY8-1 ]
NP_055744.2. NM_014929.3. [Q9NYY8-1 ]
UniGenei Hs.5930.
Hs.722628.

3D structure databases

ProteinModelPortali Q9NYY8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116535. 3 interactions.
IntActi Q9NYY8. 2 interactions.
MINTi MINT-8051813.
STRINGi 9606.ENSP00000236980.

PTM databases

PhosphoSitei Q9NYY8.

Polymorphism databases

DMDMi 74734717.

Proteomic databases

MaxQBi Q9NYY8.
PaxDbi Q9NYY8.
PRIDEi Q9NYY8.

Protocols and materials databases

DNASUi 22868.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000236980 ; ENSP00000236980 ; ENSG00000118246 . [Q9NYY8-1 ]
ENST00000402774 ; ENSP00000385990 ; ENSG00000118246 . [Q9NYY8-1 ]
ENST00000403094 ; ENSP00000384929 ; ENSG00000118246 . [Q9NYY8-1 ]
GeneIDi 22868.
KEGGi hsa:22868.
UCSCi uc002vbu.3. human. [Q9NYY8-1 ]
uc002vbw.1. human. [Q9NYY8-2 ]

Organism-specific databases

CTDi 22868.
GeneCardsi GC02P207630.
HGNCi HGNC:29160. FASTKD2.
MIMi 612322. gene.
neXtProti NX_Q9NYY8.
Orphaneti 166105. FASTKD2-related infantile mitochondrial encephalomyopathy.
254905. Isolated cytochrome C oxidase deficiency.
PharmGKBi PA134974924.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG71058.
HOGENOMi HOG000112491.
HOVERGENi HBG081516.
InParanoidi Q9NYY8.
KOi K18190.
OMAi INILQSC.
OrthoDBi EOG7TBC2C.
PhylomeDBi Q9NYY8.
TreeFami TF352875.

Miscellaneous databases

ChiTaRSi FASTKD2. human.
GenomeRNAii 22868.
NextBioi 43391.
PROi Q9NYY8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NYY8.
Bgeei Q9NYY8.
CleanExi HS_FASTKD2.
Genevestigatori Q9NYY8.

Family and domain databases

InterProi IPR013579. FAST_2.
IPR010622. FAST_Leu-rich.
IPR013584. RAP.
[Graphical view ]
Pfami PF06743. FAST_1. 1 hit.
PF08368. FAST_2. 1 hit.
PF08373. RAP. 1 hit.
[Graphical view ]
SMARTi SM00952. RAP. 1 hit.
[Graphical view ]
PROSITEi PS51286. RAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Adrenal gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Melanoma.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 442-710 (ISOFORM 1).
    Tissue: Teratocarcinoma.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: September 3, 2014
This is version 102 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.

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

External Data

Dasty 3

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