P20794 (MAK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Serine/threonine-protein kinase MAK
EC=2.7.11.22

Alternative name(s):
Male germ cell-associated kinase

Gene names

Name:

MAK

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	623 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Could play an important function in spermatogenesis.
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Tissue specificity	Expressed mainly in testicular cells at and after meiosis.
Sequence similarities	Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Coding sequence diversity	Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Developmental protein Kinase Serine/threonine-protein kinase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW photoreceptor cell maintenance Inferred from sequence or structural similarity. Source: UniProtKB spermatogenesis Non-traceable author statement Ref.2. Source: UniProtKB
Cellular component	photoreceptor outer segment Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	ATP binding Non-traceable author statement. Source: UniProtKB cyclin-dependent protein kinase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 623	623	Serine/threonine-protein kinase MAK		PRO_0000086284
Regions
	Domain	4 – 284	281	Protein kinase
	Nucleotide binding	10 – 18	9	ATP By similarity
	Compositional bias	309 – 368	60	Glu/Pro-rich
Sites
	Active site	125	1	Proton acceptor By similarity
	Binding site	33	1	ATP By similarity
Natural variations
	Natural variant	189	1	I → V. Ref.3 Corresponds to variant rs56215624 [ dbSNP | Ensembl ].		VAR_042006
	Natural variant	272	1	R → P in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.3		VAR_042007
	Natural variant	329	1	D → E. Corresponds to variant rs17579447 [ dbSNP | Ensembl ].		VAR_053932
	Natural variant	384	1	N → S. Ref.3 Corresponds to variant rs55773478 [ dbSNP | Ensembl ].		VAR_042008
	Natural variant	520	1	P → S. Ref.3 Corresponds to variant rs567083 [ dbSNP | Ensembl ].		VAR_042009
	Natural variant	550	1	F → L. Ref.3 Corresponds to variant rs56217305 [ dbSNP | Ensembl ].		VAR_042010

Sequences

	Sequence		Length	Mass (Da)
	P20794 [UniParc]. Last modified April 27, 2001. Version 2. Checksum: 67F540266F370285	FASTA	623	70,581
	10 20 30 40 50 60 MNRYTTMRQL GDGTYGSVLM GKSNESGELV AIKRMKRKFY SWDECMNLRE VKSLKKLNHA 70 80 90 100 110 120 NVIKLKEVIR ENDHLYFIFE YMKENLYQLM KDRNKLFPES VIRNIMYQIL QGLAFIHKHG 130 140 150 160 170 180 FFHRDMKPEN LLCMGPELVK IADFGLAREL RSQPPYTDYV STRWYRAPEV LLRSSVYSSP 190 200 210 220 230 240 IDVWAVGSIM AELYMLRPLF PGTSEVDEIF KICQVLGTPK KSDWPEGYQL ASSMNFRFPQ 250 260 270 280 290 300 CVPINLKTLI PNASNEAIQL MTEMLNWDPK KRPTASQALK HPYFQVGQVL GPSSNHLESK 310 320 330 340 350 360 QSLNKQLQPL ESKPSLVEVE PKPLPDIIDQ VVGQPQPKTS QQPLQPIQPP QNLSVQQPPK 370 380 390 400 410 420 QQSQEKPPQT LFPSIVKNMP TKPNGTLSHK SGRRRWGQTI FKSGDSWEEL EDYDFGASHS 430 440 450 460 470 480 KKPSMGVFKE KRKKDSPFRL PEPVPSGSNH STGENKSLPA VTSLKSDSEL STAPTSKQYY 490 500 510 520 530 540 LKQSRYLPGV NPKKVSLIAS GKEINPHTWS NQLFPKSLGP VGAELAFKRS NAGNLGSYAT 550 560 570 580 590 600 YNQSGYIPSF LKKEVQSAGQ RIHLAPLNAT ASEYTWNTKT GRGQFSGRTY NPTAKNLNIV 610 620 NRAQPIPSVH GRTDWVAKYG GHR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis." Matsushime H., Jinno A., Takagi N., Shibuya M. Mol. Cell. Biol. 10:2261-2268(1990) [PubMed: 2183027] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 121-163.
[3]	"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] VAL-189; PRO-272; SER-384; SER-520 AND LEU-550.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL024498 Genomic DNA. Translation: CAB75823.1. M35863 Genomic DNA. Translation: AAA36195.1.
IPI	IPI00025489.
PIR	B34711.
RefSeq	NP_005897.1. NM_005906.4.
UniGene	Hs.446125.
3D structure databases
ProteinModelPortal	P20794.
SMR	P20794. Positions 1-287.
ModBase	Search...
Protein-protein interaction databases
IntAct	P20794. 6 interactions.
STRING	P20794.
PTM databases
PhosphoSite	P20794.
Polymorphism databases
DMDM	13432166.
Proteomic databases
PRIDE	P20794.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000313243; ENSP00000313021; ENSG00000111837. ENST00000354489; ENSP00000346484; ENSG00000111837.
GeneID	4117.
KEGG	hsa:4117.
UCSC	uc003mzl.1. human.
Organism-specific databases
CTD	4117.
GeneCards	GC06M010820.
H-InvDB	HIX0005576.
HGNC	HGNC:6816. MAK.
HPA	HPA039092.
MIM	154235. gene.
neXtProt	NX_P20794.
Orphanet	791. Retinitis pigmentosa.
PharmGKB	PA30564.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18980.
HOGENOM	HBG445725.
HOVERGEN	HBG014652.
InParanoid	P20794.
OMA	AGNLGSY.
OrthoDB	EOG41RPTH.
PhylomeDB	P20794.
Enzyme and pathway databases
BRENDA	2.7.11.22. 2681.
Gene expression databases
ArrayExpress	P20794.
Bgee	P20794.
CleanEx	HS_MAK.
Genevestigator	P20794.
GermOnline	ENSG00000111837. Homo sapiens.
Family and domain databases
InterPro	IPR011009. Kinase-like_dom. IPR000719. Prot_kinase_cat_dom. IPR017441. Protein_kinase_ATP_BS. IPR017442. Se/Thr_kinase-like_dom. IPR008271. Ser/Thr_kinase_AS. IPR002290. Ser/Thr_kinase_dom. [Graphical view]
KO	K08829.
Pfam	PF00069. Pkinase. 1 hit. [Graphical view]
SMART	SM00220. S_TKc. 1 hit. [Graphical view]
SUPFAM	SSF56112. Kinase_like. 1 hit.
PROSITE	PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	16166.
SOURCE	Search...

Entry information

Entry name

MAK_HUMAN

Accession

Primary (citable) accession number: P20794
Secondary accession number(s): Q9NUH7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1991
Last sequence update:	April 27, 2001
Last modified:	January 25, 2012
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.