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Protein

Malignant fibrous histiocytoma-amplified sequence 1

Gene

MFHAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Malignant fibrous histiocytoma-amplified sequence 1
Alternative name(s):
Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1
Gene namesi
Name:MFHAS1
Synonyms:MASL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:16982. MFHAS1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei1000 – 10012Breakpoint for translocation to form chimeric MASL1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

PharmGKBiPA30773.

Polymorphism and mutation databases

BioMutaiMFHAS1.
DMDMi296437367.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 10521051Malignant fibrous histiocytoma-amplified sequence 1PRO_0000308609Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei601 – 6011N6-acetyllysineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y4C4.
MaxQBiQ9Y4C4.
PaxDbiQ9Y4C4.
PRIDEiQ9Y4C4.

PTM databases

iPTMnetiQ9Y4C4.
PhosphoSiteiQ9Y4C4.

Expressioni

Tissue specificityi

Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas.1 Publication

Gene expression databases

BgeeiQ9Y4C4.
CleanExiHS_MFHAS1.
GenevisibleiQ9Y4C4. HS.

Organism-specific databases

HPAiHPA051213.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HSPD1P108093EBI-2864441,EBI-352528

Protein-protein interaction databases

BioGridi114681. 5 interactions.
IntActiQ9Y4C4. 7 interactions.
STRINGi9606.ENSP00000276282.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4C4.
SMRiQ9Y4C4. Positions 33-413.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati64 – 8522LRR 1Add
BLAST
Repeati88 – 10922LRR 2Add
BLAST
Repeati112 – 13322LRR 3Add
BLAST
Repeati136 – 15722LRR 4Add
BLAST
Repeati159 – 18022LRR 5Add
BLAST
Repeati182 – 20322LRR 6Add
BLAST
Repeati205 – 22622LRR 7Add
BLAST
Repeati228 – 24922LRR 8Add
BLAST
Repeati251 – 27222LRR 9Add
BLAST
Repeati274 – 29623LRR 10Add
BLAST
Repeati297 – 31822LRR 11Add
BLAST
Repeati320 – 34122LRR 12Add
BLAST
Repeati343 – 36422LRR 13Add
BLAST
Domaini403 – 649247RocPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 13 LRR (leucine-rich) repeats.Curated
Contains 1 Roc domain.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000113571.
HOVERGENiHBG108130.
InParanoidiQ9Y4C4.
OMAiHVVQRSD.
OrthoDBiEOG7HF1HJ.
PhylomeDBiQ9Y4C4.
TreeFamiTF351429.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
3.80.10.10. 2 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR013684. MIRO-like.
IPR027417. P-loop_NTPase.
IPR020859. ROC_dom.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
PF08477. Roc. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS51450. LRR. 12 hits.
PS51424. ROC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9Y4C4-1 [UniParc]FASTAAdd to basket

« Hide

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

NQ
Length:1,052
Mass (Da):116,950
Last modified:May 18, 2010 - v2
Checksum:iD68AB60DEC5F6653
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti529 – 5291H → N in BAA74737 (PubMed:9973190).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631L → V.
Corresponds to variant rs34984230 [ dbSNP | Ensembl ].
VAR_036846
Natural varianti892 – 8921L → P.2 Publications
Corresponds to variant rs429433 [ dbSNP | Ensembl ].
VAR_036847

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB016816 mRNA. Translation: BAA74737.1.
AC090567 Genomic DNA. No translation available.
BC014226 mRNA. Translation: AAH14226.2.
CCDSiCCDS34844.1.
RefSeqiNP_004216.2. NM_004225.2.
UniGeneiHs.379414.

Genome annotation databases

EnsembliENST00000276282; ENSP00000276282; ENSG00000147324.
GeneIDi9258.
KEGGihsa:9258.
UCSCiuc003wsj.2. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB016816 mRNA. Translation: BAA74737.1.
AC090567 Genomic DNA. No translation available.
BC014226 mRNA. Translation: AAH14226.2.
CCDSiCCDS34844.1.
RefSeqiNP_004216.2. NM_004225.2.
UniGeneiHs.379414.

3D structure databases

ProteinModelPortaliQ9Y4C4.
SMRiQ9Y4C4. Positions 33-413.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114681. 5 interactions.
IntActiQ9Y4C4. 7 interactions.
STRINGi9606.ENSP00000276282.

PTM databases

iPTMnetiQ9Y4C4.
PhosphoSiteiQ9Y4C4.

Polymorphism and mutation databases

BioMutaiMFHAS1.
DMDMi296437367.

Proteomic databases

EPDiQ9Y4C4.
MaxQBiQ9Y4C4.
PaxDbiQ9Y4C4.
PRIDEiQ9Y4C4.

Protocols and materials databases

DNASUi9258.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276282; ENSP00000276282; ENSG00000147324.
GeneIDi9258.
KEGGihsa:9258.
UCSCiuc003wsj.2. human.

Organism-specific databases

CTDi9258.
GeneCardsiMFHAS1.
H-InvDBHIX0007295.
HGNCiHGNC:16982. MFHAS1.
HPAiHPA051213.
MIMi605352. gene.
neXtProtiNX_Q9Y4C4.
PharmGKBiPA30773.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000113571.
HOVERGENiHBG108130.
InParanoidiQ9Y4C4.
OMAiHVVQRSD.
OrthoDBiEOG7HF1HJ.
PhylomeDBiQ9Y4C4.
TreeFamiTF351429.

Miscellaneous databases

ChiTaRSiMFHAS1. human.
GenomeRNAii9258.
PROiQ9Y4C4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y4C4.
CleanExiHS_MFHAS1.
GenevisibleiQ9Y4C4. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
3.80.10.10. 2 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR013684. MIRO-like.
IPR027417. P-loop_NTPase.
IPR020859. ROC_dom.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
PF08477. Roc. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS51450. LRR. 12 hits.
PS51424. ROC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: DISEASE, CHROMOSOMAL TRANSLOCATION WITH 14Q21 ELEMENT.
  5. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-601, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMFHA1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4C4
Secondary accession number(s): Q96CI0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: June 8, 2016
This is version 115 of the entry and version 2 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

Miscellaneous

Tumorigenic in nude mice.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.