Q9Y4C4 (MFHA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Malignant fibrous histiocytoma-amplified sequence 1

Alternative name(s):
Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1

Gene names

Name:	MFHAS1
Synonyms:	MASL1

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	1052 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas. Ref.1
Involvement in disease	Note=A chromosomal aberration involving MFHAS1 may be a cause of B-cell lymphoma. Translocation t(8;14)(p23.1;q21) with a cryptic exon named '14q21 element'. The resulting fusion protein named 'chimeric MASL1' is tumorigenic in nude mice. Ref.4
Miscellaneous	Tumorigenic in nude mice.
Sequence similarities	Contains 13 LRR (leucine-rich) repeats. Contains 1 Roc domain.

Ontologies

Keywords
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Disease	Tumor suppressor
Domain	Leucine-rich repeat Repeat
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1052	1052	Malignant fibrous histiocytoma-amplified sequence 1		PRO_0000308609
Regions
	Repeat	64 – 85	22	LRR 1
	Repeat	88 – 109	22	LRR 2
	Repeat	112 – 133	22	LRR 3
	Repeat	136 – 157	22	LRR 4
	Repeat	159 – 180	22	LRR 5
	Repeat	182 – 203	22	LRR 6
	Repeat	205 – 226	22	LRR 7
	Repeat	228 – 249	22	LRR 8
	Repeat	251 – 272	22	LRR 9
	Repeat	274 – 296	23	LRR 10
	Repeat	297 – 318	22	LRR 11
	Repeat	320 – 341	22	LRR 12
	Repeat	343 – 364	22	LRR 13
	Domain	403 – 649	247	Roc
Sites
	Site	1000 – 1001	2	Breakpoint for translocation to form chimeric MASL1
Amino acid modifications
	Modified residue	447	1	Phosphotyrosine Ref.6
	Modified residue	450	1	Phosphoserine Ref.6
	Modified residue	455	1	Phosphoserine Ref.6
	Modified residue	468	1	Phosphoserine Ref.5
	Modified residue	601	1	N6-acetyllysine Ref.7
Natural variations
	Natural variant	163	1	L → V. Corresponds to variant rs34984230 [ dbSNP | Ensembl ].		VAR_036846
	Natural variant	892	1	L → P. Ref.1 Ref.3 Corresponds to variant rs429433 [ dbSNP | Ensembl ].		VAR_036847
Experimental info
	Sequence conflict	529	1	H → N in BAA74737. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y4C4 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: D68AB60DEC5F6653	FASTA	1,052	116,950
	10 20 30 40 50 60 MAGMDSGNLK TARLWRDAAL RARKLRSNLR QLTLTAAGAC PGAGADALES PASPQLVLPA 70 80 90 100 110 120 NLGDIEALNL GNNGLEEVPE GLGSALGSLR VLVLRRNRFA RLPPAVAELG HHLTELDVSH 130 140 150 160 170 180 NRLTALGAEV VSALRELRKL NLSHNQLPAL PAQLGALAHL EELDVSFNRL AHLPDSLSCL 190 200 210 220 230 240 SRLRTLDVDH NQLTAFPRQL LQLVALEELD VSSNRLRGLP EDISALRALK ILWLSGAELG 250 260 270 280 290 300 TLPAGFCELA SLESLMLDNN GLQALPAQFS CLQRLKMLNL SSNLFEEFPA ALLPLAGLEE 310 320 330 340 350 360 LYLSRNQLTS VPSLISGLGR LLTLWLDNNR IRYLPDSIVE LTGLEELVLQ GNQIAVLPDH 370 380 390 400 410 420 FGQLSRVGLW KIKDNPLIQP PYEVCMKGIP YIAAYQKELA HSQPAVQPRL KLLLMGHKAA 430 440 450 460 470 480 GKTLLRHCLT EERVEGCPGG GDKEKCYPPS PPPVSKGIEV TSWTADASRG LRFIVYDLAG 490 500 510 520 530 540 DESYEVIQPF FLSPGALYVL VVNLATYEPR HFPTTVGSFL HRVGARVPHA VVCIVGTHAD 550 560 570 580 590 600 LCGERELEEK CLDIHRQIAL QEKHDAEGLS RLAKVVDEAL ARDFELRSAS PHAAYYGVSD 610 620 630 640 650 660 KNLRRRKAHF QYLLNHRLQI LSPVLPVSCR DPRHLRRLRD KLLSVAEHRE IFPNLHRVLP 670 680 690 700 710 720 RSWQVLEELH FQPPQAQRLW LSWWDSARLG LQAGLTEDRL QSALSYLHES GKLLYFEDSP 730 740 750 760 770 780 ALKEHVFHNL TRLIDILNVF FQRDPSLLLH KLLLGTSGEG KAEGESSPPM ARSTPSQELL 790 800 810 820 830 840 RATQLHQYVE GFLLHGLLPA HVIRLLLKPH VQAQQDLQLL LELLEKMGLC YCLNKPKGKP 850 860 870 880 890 900 LNGSTAWYKF PCYVQNEVPH AEAWINGTNL AGQSFVAEQL QIEYSFPFTF PLGLFARYSV 910 920 930 940 950 960 QINSHVVHRS DGKFQIFAYR GKVPVVVSYR PARGVLQPDT LSIASHASLP NIWTAWQAIT 970 980 990 1000 1010 1020 PLVEELNVLL QEWPGLHYTV HILCSKCLKR GSPNPHAFPG ELLSQPRPEG VAEIICPKNG 1030 1040 1050 SERVNVALVY PPTPTVISPC SKKNVGEKHR NQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel gene, MASL1, within an amplicon at 8p23.1 detected in malignant fibrous histiocytomas by comparative genomic hybridization." Sakabe T., Shinomiya T., Mori T., Ariyama Y., Fukuda Y., Fujiwara T., Nakamura Y., Inazawa J. Cancer Res. 59:511-515(1999) [PubMed: 9973190] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT PRO-892. Tissue: Fetal brain.
[2]	"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].
[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] OF 383-1052, VARIANT PRO-892. Tissue: B-cell.
[4]	"MASL1, a candidate oncogene found in amplification at 8p23.1, is translocated in immunoblastic B-cell lymphoma cell line OCI-LY8." Tagawa H., Karnan S., Kasugai Y., Tuzuki S., Suzuki R., Hosokawa Y., Seto M. Oncogene 23:2576-2581(2004) [PubMed: 14691450] [Abstract] Cited for: DISEASE, CHROMOSOMAL TRANSLOCATION WITH 14Q21 ELEMENT.
[5]	"Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry." Tao W.A., Wollscheid B., O'Brien R., Eng J.K., Li X.-J., Bodenmiller B., Watts J.D., Hood L., Aebersold R. Nat. Methods 2:591-598(2005) [PubMed: 16094384] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-468, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[6]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-447; SER-450 AND SER-455, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-601, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB016816 mRNA. Translation: BAA74737.1. AC090567 Genomic DNA. No translation available. BC014226 mRNA. Translation: AAH14226.2.
IPI	IPI00003495.
RefSeq	NP_004216.2. NM_004225.2.
UniGene	Hs.379414.
3D structure databases
HSSP	HSSP built from PDB template 1M0Z based on UniProtKB P07359.
ProteinModelPortal	Q9Y4C4.
SMR	Q9Y4C4. Positions 24-548.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y4C4. 2 interactions.
STRING	Q9Y4C4.
PTM databases
PhosphoSite	Q9Y4C4.
Polymorphism databases
DMDM	296437367.
Proteomic databases
PRIDE	Q9Y4C4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000276282; ENSP00000276282; ENSG00000147324.
GeneID	9258.
KEGG	hsa:9258.
UCSC	uc003wsj.1. human.
Organism-specific databases
CTD	9258.
GeneCards	GC08M008680.
H-InvDB	HIX0007295.
HGNC	HGNC:16982. MFHAS1.
MIM	605352. gene.
neXtProt	NX_Q9Y4C4.
PharmGKB	PA30773.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10952.
GeneTree	ENSGT00600000084050.
HOGENOM	HBG445269.
HOVERGEN	HBG108130.
InParanoid	Q9Y4C4.
OMA	FFQRDAS.
OrthoDB	EOG4CVG64.
PhylomeDB	Q9Y4C4.
Gene expression databases
ArrayExpress	Q9Y4C4.
Bgee	Q9Y4C4.
CleanEx	HS_MFHAS1.
Genevestigator	Q9Y4C4.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR003591. Leu-rich_rpt_typical-subtyp. IPR020859. ROC_GTPase. [Graphical view]
Pfam	PF00560. LRR_1. 5 hits. [Graphical view]
SMART	SM00369. LRR_TYP. 2 hits. [Graphical view]
PROSITE	PS51450. LRR. 12 hits. PS51424. ROC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

MFHA1_HUMAN

Accession

Primary (citable) accession number: Q9Y4C4
Secondary accession number(s): Q96CI0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 74 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.