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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...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147324-MONOMER.

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)DescriptionActionsGraphical viewLength
Sitei1000 – 1001Breakpoint for translocation to form chimeric MASL12

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi9258.
OpenTargetsiENSG00000147324.
PharmGKBiPA30773.

Polymorphism and mutation databases

BioMutaiMFHAS1.
DMDMi296437367.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003086092 – 1052Malignant fibrous histiocytoma-amplified sequence 1Add BLAST1051

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei601N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y4C4.
MaxQBiQ9Y4C4.
PaxDbiQ9Y4C4.
PeptideAtlasiQ9Y4C4.
PRIDEiQ9Y4C4.

PTM databases

iPTMnetiQ9Y4C4.
PhosphoSitePlusiQ9Y4C4.

Expressioni

Tissue specificityi

Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas.1 Publication

Gene expression databases

BgeeiENSG00000147324.
CleanExiHS_MFHAS1.
GenevisibleiQ9Y4C4. HS.

Organism-specific databases

HPAiHPA051213.
HPA054471.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi114681. 5 interactors.
IntActiQ9Y4C4. 7 interactors.
STRINGi9606.ENSP00000276282.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4C4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati64 – 85LRR 1Add BLAST22
Repeati88 – 109LRR 2Add BLAST22
Repeati112 – 133LRR 3Add BLAST22
Repeati136 – 157LRR 4Add BLAST22
Repeati159 – 180LRR 5Add BLAST22
Repeati182 – 203LRR 6Add BLAST22
Repeati205 – 226LRR 7Add BLAST22
Repeati228 – 249LRR 8Add BLAST22
Repeati251 – 272LRR 9Add BLAST22
Repeati274 – 296LRR 10Add BLAST23
Repeati297 – 318LRR 11Add BLAST22
Repeati320 – 341LRR 12Add BLAST22
Repeati343 – 364LRR 13Add BLAST22
Domaini403 – 649RocPROSITE-ProRule annotationAdd BLAST247

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.
OrthoDBiEOG091G0138.
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)DescriptionActionsGraphical viewLength
Sequence conflicti529H → N in BAA74737 (PubMed:9973190).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036846163L → V.Corresponds to variant rs34984230dbSNPEnsembl.1
Natural variantiVAR_036847892L → P.2 PublicationsCorresponds to variant rs429433dbSNPEnsembl.1

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114681. 5 interactors.
IntActiQ9Y4C4. 7 interactors.
STRINGi9606.ENSP00000276282.

PTM databases

iPTMnetiQ9Y4C4.
PhosphoSitePlusiQ9Y4C4.

Polymorphism and mutation databases

BioMutaiMFHAS1.
DMDMi296437367.

Proteomic databases

EPDiQ9Y4C4.
MaxQBiQ9Y4C4.
PaxDbiQ9Y4C4.
PeptideAtlasiQ9Y4C4.
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.
DisGeNETi9258.
GeneCardsiMFHAS1.
H-InvDBHIX0007295.
HGNCiHGNC:16982. MFHAS1.
HPAiHPA051213.
HPA054471.
MIMi605352. gene.
neXtProtiNX_Q9Y4C4.
OpenTargetsiENSG00000147324.
PharmGKBiPA30773.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000113571.
HOVERGENiHBG108130.
InParanoidiQ9Y4C4.
OMAiHVVQRSD.
OrthoDBiEOG091G0138.
PhylomeDBiQ9Y4C4.
TreeFamiTF351429.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000147324-MONOMER.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000147324.
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...

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: November 2, 2016
This is version 119 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.