Reviewed, UniProtKB/Swiss-Prot Q96GX5 (MASTL_HUMAN)

Names and origin

Protein names

Recommended name:
    Microtubule-associated serine/threonine-protein kinase-like
    EC=2.7.11.1

Gene names

Name:	MASTL
Synonyms:	THC2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	879 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Putative serine/threonine kinase which may be involved in megakaryocyte differentiation.
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Involvement in disease	Defects in MASTL are a cause of non-syndromic autosomal dominant thrombocytopenia (THC2) [MIM:188000].
Sequence similarities	Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
PTM	Phosphoprotein
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96GX5-1)

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.

Isoform 2 (identifier: Q96GX5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     708-708: Missing.
     756-793: Missing.

Notes: No experimental confirmation available.

Isoform 3 (identifier: Q96GX5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     708-708: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 879	879	Microtubule-associated serine/threonine-protein kinase-like
Regions
	Domain	35 – 835	801	Protein kinase
	Domain	836 – 879	44	AGC-kinase C-terminal
	Nucleotide binding	41 – 49	9	ATP By similarity
Sites
	Active site	156	1	Proton acceptor By similarity
	Binding site	62	1	ATP By similarity
Amino acid modifications
	Modified residue	370	1	Phosphoserine
	Modified residue	631	1	Phosphoserine
Natural variations
	Alternative sequence	708	1	Missing in isoform 2 and isoform 3.
	Alternative sequence	756 – 793	38	Missing in isoform 2.
	Natural variant	167	1	E → D in THC2.
	Natural variant	337	1	T → K
	Natural variant	610	1	V → I
	Natural variant	620	1	P → A: dbSNP rs3802526.
Experimental info
	Sequence conflict	634	1	K → E in BAC11218. Ref.1
	Sequence conflict	685	1	C → R in BAB55321. Ref.1
	Sequence conflict	731	1	A → P in BAC11218. Ref.1
	Sequence conflict	865	1	A → T in BAB55321. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: E6533029D1CE58B4	FASTA	879	97,319
	10 20 30 40 50 60 MDPTAGSKKE PGGGAATEEG VNRIAVPKPP SIEEFSIVKP ISRGAFGKVY LGQKGGKLYA 70 80 90 100 110 120 VKVVKKADMI NKNMTHQVQA ERDALALSKS PFIVHLYYSL QSANNVYLVM EYLIGGDVKS 130 140 150 160 170 180 LLHIYGYFDE EMAVKYISEV ALALDYLHRH GIIHRDLKPD NMLISNEGHI KLTDFGLSKV 190 200 210 220 230 240 TLNRDINMMD ILTTPSMAKP RQDYSRTPGQ VLSLISSLGF NTPIAEKNQD PANILSACLS 250 260 270 280 290 300 ETSQLSQGLV CPMSVDQKDT TPYSSKLLKS CLETVASNPG MPVKCLTSNL LQSRKRLATS 310 320 330 340 350 360 SASSQSHTFI SSVESECHSS PKWEKDCQES DEALGPTMMS WNAVEKLCAK SANAIETKGF 370 380 390 400 410 420 NKKDLELALS PIHNSSALPT TGRSCVNLAK KCFSGEVSWE AVELDVNNIN MDTDTSQLGF 430 440 450 460 470 480 HQSNQWAVDS GGISEEHLGK RSLKRNFELV DSSPCKKIIQ NKKTCVEYKH NEMTNCYTNQ 490 500 510 520 530 540 NTGLTVEVQD LKLSVHKSQQ NDCANKENIV NSFTDKQQTP EKLPIPMIAK NLMCELDEDC 550 560 570 580 590 600 EKNSKRDYLS SSFLCSDDDR ASKNISMNSD SSFPGISIME SPLESQPLDS DRSIKESSFE 610 620 630 640 650 660 ESNIEDPLIV TPDCQEKTSP KGVENPAVQE SNQKMLGPPL EVLKTLASKR NAVAFRSFNS 670 680 690 700 710 720 HINASNNSEP SRMNMTSLDA MDISCAYSGS YPMAITPTQK RRSCMPHQQT PNQIKSGTPY 730 740 750 760 770 780 RTPKSVRRGV APVDDGRILG TPDYLAPELL LGRAHGPAVD WWALGVCLFE FLTGIPPFND 790 800 810 820 830 840 ETPQQVFQNI LKRDIPWPEG EEKLSDNAQS AVEILLTIDD TKRAGMKELK RHPLFSDVDW 850 860 870 ENLQHQTMPF IPQPDDETDT SYFEARNTAQ HLTVSGFSL
	Isoform 2 [UniParc]. Checksum: 72CD7A9036188FE1		840	92,861
	10 20 30 40 50 60 MDPTAGSKKE PGGGAATEEG VNRIAVPKPP SIEEFSIVKP ISRGAFGKVY LGQKGGKLYA 70 80 90 100 110 120 VKVVKKADMI NKNMTHQVQA ERDALALSKS PFIVHLYYSL QSANNVYLVM EYLIGGDVKS 130 140 150 160 170 180 LLHIYGYFDE EMAVKYISEV ALALDYLHRH GIIHRDLKPD NMLISNEGHI KLTDFGLSKV 190 200 210 220 230 240 TLNRDINMMD ILTTPSMAKP RQDYSRTPGQ VLSLISSLGF NTPIAEKNQD PANILSACLS 250 260 270 280 290 300 ETSQLSQGLV CPMSVDQKDT TPYSSKLLKS CLETVASNPG MPVKCLTSNL LQSRKRLATS 310 320 330 340 350 360 SASSQSHTFI SSVESECHSS PKWEKDCQES DEALGPTMMS WNAVEKLCAK SANAIETKGF 370 380 390 400 410 420 NKKDLELALS PIHNSSALPT TGRSCVNLAK KCFSGEVSWE AVELDVNNIN MDTDTSQLGF 430 440 450 460 470 480 HQSNQWAVDS GGISEEHLGK RSLKRNFELV DSSPCKKIIQ NKKTCVEYKH NEMTNCYTNQ 490 500 510 520 530 540 NTGLTVEVQD LKLSVHKSQQ NDCANKENIV NSFTDKQQTP EKLPIPMIAK NLMCELDEDC 550 560 570 580 590 600 EKNSKRDYLS SSFLCSDDDR ASKNISMNSD SSFPGISIME SPLESQPLDS DRSIKESSFE 610 620 630 640 650 660 ESNIEDPLIV TPDCQEKTSP KGVENPAVQE SNQKMLGPPL EVLKTLASKR NAVAFRSFNS 670 680 690 700 710 720 HINASNNSEP SRMNMTSLDA MDISCAYSGS YPMAITPTQK RRSCMPHQTP NQIKSGTPYR 730 740 750 760 770 780 TPKSVRRGVA PVDDGRILGT PDYLAPELLL GRAHDIPWPE GEEKLSDNAQ SAVEILLTID 790 800 810 820 830 840 DTKRAGMKEL KRHPLFSDVD WENLQHQTMP FIPQPDDETD TSYFEARNTA QHLTVSGFSL
	Isoform 3 [UniParc]. Checksum: D04E9C47F8615FCE		878	97,191
	10 20 30 40 50 60 MDPTAGSKKE PGGGAATEEG VNRIAVPKPP SIEEFSIVKP ISRGAFGKVY LGQKGGKLYA 70 80 90 100 110 120 VKVVKKADMI NKNMTHQVQA ERDALALSKS PFIVHLYYSL QSANNVYLVM EYLIGGDVKS 130 140 150 160 170 180 LLHIYGYFDE EMAVKYISEV ALALDYLHRH GIIHRDLKPD NMLISNEGHI KLTDFGLSKV 190 200 210 220 230 240 TLNRDINMMD ILTTPSMAKP RQDYSRTPGQ VLSLISSLGF NTPIAEKNQD PANILSACLS 250 260 270 280 290 300 ETSQLSQGLV CPMSVDQKDT TPYSSKLLKS CLETVASNPG MPVKCLTSNL LQSRKRLATS 310 320 330 340 350 360 SASSQSHTFI SSVESECHSS PKWEKDCQES DEALGPTMMS WNAVEKLCAK SANAIETKGF 370 380 390 400 410 420 NKKDLELALS PIHNSSALPT TGRSCVNLAK KCFSGEVSWE AVELDVNNIN MDTDTSQLGF 430 440 450 460 470 480 HQSNQWAVDS GGISEEHLGK RSLKRNFELV DSSPCKKIIQ NKKTCVEYKH NEMTNCYTNQ 490 500 510 520 530 540 NTGLTVEVQD LKLSVHKSQQ NDCANKENIV NSFTDKQQTP EKLPIPMIAK NLMCELDEDC 550 560 570 580 590 600 EKNSKRDYLS SSFLCSDDDR ASKNISMNSD SSFPGISIME SPLESQPLDS DRSIKESSFE 610 620 630 640 650 660 ESNIEDPLIV TPDCQEKTSP KGVENPAVQE SNQKMLGPPL EVLKTLASKR NAVAFRSFNS 670 680 690 700 710 720 HINASNNSEP SRMNMTSLDA MDISCAYSGS YPMAITPTQK RRSCMPHQTP NQIKSGTPYR 730 740 750 760 770 780 TPKSVRRGVA PVDDGRILGT PDYLAPELLL GRAHGPAVDW WALGVCLFEF LTGIPPFNDE 790 800 810 820 830 840 TPQQVFQNIL KRDIPWPEGE EKLSDNAQSA VEILLTIDDT KRAGMKELKR HPLFSDVDWE 850 860 870 NLQHQTMPFI PQPDDETDTS YFEARNTAQH LTVSGFSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[4]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-631, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370, MASS SPECTROMETRY.
[6]	"FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10." Gandhi M.J., Cummings C.L., Drachman J.G. Hum. Hered. 55:66-70(2003) [PubMed: 12890928] [Abstract] Cited for: VARIANT THC2 ASP-167, FUNCTION.
[7]	"Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R. Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-337; ILE-610 AND ALA-620.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK027719 mRNA. Translation: BAB55321.1. AK074804 mRNA. Translation: BAC11218.1. AL160291 Genomic DNA. Translation: CAI16908.1. AL160291 Genomic DNA. Translation: CAI16909.1. AL160291 Genomic DNA. Translation: CAI16910.1. BC009107 mRNA. Translation: AAH09107.1.
RefSeq	NP_116233.2.
UniGene	Hs.276905
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q96GX5.
Genome annotation databases
Ensembl	ENSG00000120539. Homo sapiens. [Contig view]
GeneID	84930.
KEGG	hsa:84930.
Organism-specific databases
HGNC	HGNC:19042. MASTL.
MIM	188000. phenotype. 608221. gene.
Orphanet	3321. Thrombocytopenia chromosome breakage.
PharmGKB	PA134943781.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q96GX5.
HOVERGEN	Q96GX5.
Gene expression databases
ArrayExpress	Q96GX5.
CleanEx	HS_MASTL.
GermOnline	ENSG00000120539. Homo sapiens.
Family and domain databases
InterPro	IPR000961. Pkinase_C. IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_bd_CS. IPR017442. Se/Thr_pkinase-rel. IPR008271. Ser_thr_pkin_AS. [Graphical view]
Pfam	PF00069. Pkinase. 2 hits. [Graphical view]
ProDom	PD000001. Prot_kinase. 2 hits. [Graphical view] [Entries sharing at least one domain]
SMART	SM00133. S_TK_X. 1 hit. [Graphical view]
PROSITE	PS51285. AGC_KINASE_CTER. 1 hit. PS00107. PROTEIN_KINASE_ATP. False negative. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

MASTL_HUMAN

Accession

Primary (citable) accession number: Q96GX5
Secondary accession number(s): Q5T8D5 , Q5T8D7, Q8NCD6, Q96SJ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	December 1, 2001
Last modified:	July 22, 2008
This is version 58 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)