Q9H063 (MAF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Repressor of RNA polymerase III transcription MAF1 homolog

Gene names

Name:

MAF1

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	256 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA. Ref.10 Ref.11 Ref.12
Subunit structure	Interacts with BRF2. Ref.7
Subcellular location	Nucleus. Cytoplasm Ref.10 Ref.12.
Post-translational modification	Phosphorylated at Ser-60, Ser-68 and Ser-75; the major sites of phosphorylation. Nuclear accumulation correlates with a concomitant dephosphorylation. Phosphorylation may attenuate its RNA polymerase III-repressive function. Ref.6 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12
Sequence similarities	Belongs to the MAF1 family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	negative regulation of transcription from RNA polymerase III promoter Inferred from direct assay Ref.10. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay Ref.10. Source: UniProtKB nucleus Inferred from direct assay Ref.10Ref.12. Source: UniProtKB
Molecular function	RNA polymerase III type 1 promoter DNA binding Inferred from direct assay Ref.10. Source: UniProtKB RNA polymerase III type 2 promoter DNA binding Inferred from direct assay Ref.10. Source: UniProtKB RNA polymerase III type 3 promoter DNA binding Inferred from direct assay Ref.10. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 256

256

Repressor of RNA polymerase III transcription MAF1 homolog

PRO_0000213973

Amino acid modifications

Modified residue

60

1

Phosphoserine; by MTOR Ref.8 Ref.10 Ref.11

Modified residue

64

1

Phosphothreonine Ref.10 Ref.11

Modified residue

65

1

Phosphoserine Ref.11

Modified residue

68

1

Phosphoserine; by MTOR Ref.8 Ref.10 Ref.11

Modified residue

70

1

Phosphoserine Ref.11

Modified residue

75

1

Phosphoserine; by MTOR Ref.6 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12

Modified residue

212

1

Phosphothreonine Ref.11

Modified residue

214

1

Phosphoserine Ref.11

Natural variations

Natural variant

236

1

G → R. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs11546144 [ dbSNP | Ensembl ].

VAR_060408

Experimental info

Mutagenesis

60

1

S → A: Stronger repressive effect on RNA polymerase III transcription; when associated with A-68 and A-75. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-64, A-68 and A-75. Ref.10 Ref.11

Mutagenesis

60

1

S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-68 and D-75. Ref.10 Ref.11

Mutagenesis

64

1

T → A: Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-68 and A-75. Ref.10

Mutagenesis

68

1

S → A: Stronger repressive effect on RNA polymerase III transcription; when associated with A-60 and A-75. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-64 and A-75. Ref.10 Ref.11

Mutagenesis

68

1

S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-60 and D-75. Ref.10 Ref.11

Mutagenesis

75

1

S → A: Stronger repressive effect on RNA polymerase III transcription. Stronger repressive effect on RNA polymerase III transcription; when associated with A-60 and A-68. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-64 and A-68. Ref.10 Ref.11 Ref.12

Mutagenesis

75

1

S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-60 and D-68. Ref.10 Ref.11 Ref.12

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

256

Helix Strand Turn

Details...

Beta strand

1 – 4

4

Helix

7 – 15

9

Beta strand

29 – 34

6

Helix

91 – 104

14

Turn

105 – 107

3

Helix

115 – 117

3

Beta strand

118 – 120

3

Helix

124 – 139

16

Helix

140 – 142

3

Helix

143 – 158

16

Helix

160 – 162

3

Beta strand

164 – 168

5

Helix

172 – 174

3

Beta strand

184 – 192

9

Turn

193 – 196

4

Beta strand

197 – 205

9

Sequences

	Sequence		Length	Mass (Da)
	Q9H063 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: D6C06D2E476753AA	FASTA	256	28,771
	10 20 30 40 50 60 MKLLENSSFE AINSQLTVET GDAHIIGRIE SYSCKMAGDD KHMFKQFCQE GQPHVLEALS 70 80 90 100 110 120 PPQTSGLSPS RLSKSQGGEE EGPLSDKCSR KTLFYLIATL NESFRPDYDF STARSHEFSR 130 140 150 160 170 180 EPSLSWVVNA VNCSLFSAVR EDFKDLKPQL WNAVDEEICL AECDIYSYNP DLDSDPFGED 190 200 210 220 230 240 GSLWSFNYFF YNKRLKRIVF FSCRSISGST YTPSEAGNEL DMELGEEEVE EESRSGGSGA 250 EETSTMEEDR VPVICI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-236. Tissue: Uterus.
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-236.
[3]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-236.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-236. Tissue: Brain, Lung and Uterus.
[6]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Human Maf1 negatively regulates RNA polymerase III transcription via the TFIIB family members Brf1 and Brf2." Rollins J., Veras I., Cabarcas S., Willis I., Schramm L. Int. J. Biol. Sci. 3:292-302(2007) [PubMed: 17505538] [Abstract] Cited for: INTERACTION WITH BRF2.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-60; SER-68 AND SER-75, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"Requirement of the mTOR kinase for the regulation of Maf1 phosphorylation and control of RNA polymerase III-dependent transcription in cancer cells." Shor B., Wu J., Shakey Q., Toral-Barza L., Shi C., Follettie M., Yu K. J. Biol. Chem. 285:15380-15392(2010) [PubMed: 20233713] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION AT SER-60; THR-64; SER-68 AND SER-75, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-60; THR-64; SER-68 AND SER-75.
[11]	"mTORC1 directly phosphorylates and regulates human MAF1." Michels A.A., Robitaille A.M., Buczynski-Ruchonnet D., Hodroj W., Reina J.H., Hall M.N., Hernandez N. Mol. Cell. Biol. 30:3749-3757(2010) [PubMed: 20516213] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION AT SER-60; SER-68 AND SER-75 BY MTOR, PHOSPHORYLATION AT THR-64; SER-65; SER-70; THR-212 AND SER-214, MUTAGENESIS OF SER-60; SER-68 AND SER-75.
[12]	"mTOR associates with TFIIIC, is found at tRNA and 5S rRNA genes, and targets their repressor Maf1." Kantidakis T., Ramsbottom B.A., Birch J.L., Dowding S.N., White R.J. Proc. Natl. Acad. Sci. U.S.A. 107:11823-11828(2010) [PubMed: 20543138] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION AT SER-75, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-75.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AL136937 mRNA. Translation: CAB66871.1.
CR533463 mRNA. Translation: CAG38494.1.
AC104592 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82158.1.
CH471162 Genomic DNA. Translation: EAW82159.1.
BC014082 mRNA. Translation: AAH14082.1.
BC018714 mRNA. Translation: AAH18714.1.
BC031273 mRNA. Translation: AAH31273.1.

IPI

IPI00031063.

RefSeq

NP_115648.2. NM_032272.4.

UniGene

Hs.19673.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3NR5	X-ray	1.55	A	1-205	[»]

ProteinModelPortal

Q9H063.

SMR

Q9H063. Positions 1-205.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9H063. 4 interactions.

MINT

MINT-1424988.

STRING

Q9H063.

PTM databases

PhosphoSite

Q9H063.

Polymorphism databases

DMDM

296434582.

Proteomic databases

PRIDE

Q9H063.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000322428; ENSP00000318604; ENSG00000179632.

GeneID

84232.

KEGG

hsa:84232.

UCSC

uc003zbc.1. human.

Organism-specific databases

CTD

84232.

GeneCards

GC08P145161.

H-InvDB

HIX0022762.

HGNC

HGNC:24966. MAF1.

MIM

610210. gene.

neXtProt

NX_Q9H063.

PharmGKB

PA142671489.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG14052.

GeneTree

ENSGT00390000006896.

HOGENOM

HBG331478.

HOVERGEN

HBG052395.

InParanoid

Q9H063.

OMA

EICLSEC.

OrthoDB

EOG41C6X5.

PhylomeDB

Q9H063.

Gene expression databases

ArrayExpress

Q9H063.

Bgee

Q9H063.

CleanEx

HS_MAF1.

Genevestigator

Q9H063.

GermOnline

ENSG00000179632. Homo sapiens.

Family and domain databases

InterPro

IPR015257. Maf1.
IPR017152. RNA_pol_III_tscrpt_repres_MAF1.
[Graphical view]

PANTHER

PTHR22504. Maf1. 1 hit.

Pfam

PF09174. Maf1. 1 hit.
[Graphical view]

PIRSF

PIRSF037240. RNA_polIII_Trep_MAF1. 1 hit.

ProtoNet

Search...

Other

NextBio

73696.

SOURCE

Search...

Entry information

Entry name

MAF1_HUMAN

Accession

Primary (citable) accession number: Q9H063
Secondary accession number(s): D3DWL4

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 31, 2004
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 81 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.