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Entry version 145 (12 Aug 2020)
Sequence version 2 (18 May 2010)
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Protein

Malignant fibrous histiocytoma-amplified sequence 1

Gene

MFHAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923).6 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionSignal transduction inhibitor
Biological processImmunity, Inflammatory response, Innate immunity
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y4C4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Malignant fibrous histiocytoma-amplified sequence 1Curated
Alternative name(s):
Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MFHAS1Imported
Synonyms:MASL11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000147324.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16982, MFHAS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605352, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y4C4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi414 – 556Missing : Dominant negative effect on the ERK1/ERK2 signaling pathway and EPO-induced erythroid differentiation. 1 PublicationAdd BLAST143
Mutagenesisi443K → A: Loss of GTP-binding. 1 Publication1
Mutagenesisi450S → A: Dominant negative effect on the ERK1/ERK2 signaling pathway and EPO-induced erythroid differentiation. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1000 – 1001Breakpoint for translocation to form chimeric MASL12

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
9258

Open Targets

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OpenTargetsi
ENSG00000147324

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30773

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y4C4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MFHAS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296437367

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003086092 – 1052Malignant fibrous histiocytoma-amplified sequence 1Add BLAST1051

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei601N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Ubiquitination by PJA2 does not lead MFHAS1 to proteasomal degradation but positively regulates its function in polarization of macrophages.1 Publication

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y4C4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y4C4

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y4C4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y4C4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y4C4

PeptideAtlas

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PeptideAtlasi
Q9Y4C4

PRoteomics IDEntifications database

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PRIDEi
Q9Y4C4

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
86160

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y4C4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y4C4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed:9973190). Expressed in red blood cells (at protein level) (PubMed:23327923).2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated during erythroid cells differentiation (at protein level) (PubMed:23327923). Up-regulated upon Toll-like receptor TLR2 stimulation (PubMed:26599367). Up-regulated in macrophages upon M. tuberculosis infection (PubMed:20616063). Up-regulated upon sepsis (PubMed:26599367). Up-regulated by glucose (PubMed:29168081).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000147324, Expressed in saphenous vein and 234 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y4C4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000147324, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAF1 (PubMed:23327923).

Interacts with HSPD1 (PubMed:24286120).

Interacts with PPP2CA; retains PPP2CA into the cytoplasm and excludes it from the nucleus (PubMed:28609714).

Interacts with PPP2R2A; the interaction is direct (PubMed:28609714).

Interacts with PJA2 (PubMed:28471450).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114681, 95 interactors

Protein interaction database and analysis system

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IntActi
Q9Y4C4, 94 interactors

Molecular INTeraction database

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MINTi
Q9Y4C4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000276282

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y4C4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y4C4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini403 – 649RocPROSITE-ProRule annotationAdd BLAST247

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni64 – 649Required for interaction with PPP2R2A1 PublicationAdd BLAST586
Regioni64 – 364Required for interaction with PJA21 PublicationAdd BLAST301

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158928

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_320767_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y4C4

Identification of Orthologs from Complete Genome Data

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OMAi
AQFSCLQ

Database of Orthologous Groups

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OrthoDBi
1013039at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y4C4

TreeFam database of animal gene trees

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TreeFami
TF351429

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR027417, P-loop_NTPase
IPR020859, ROC_dom

Pfam protein domain database

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Pfami
View protein in Pfam
PF13855, LRR_8, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00369, LRR_TYP, 13 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51450, LRR, 12 hits
PS51424, ROC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD68AB60DEC5F6653
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti529H → N in BAA74737 (PubMed:9973190).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_036846163L → V. Corresponds to variant dbSNP:rs34984230Ensembl.1
Natural variantiVAR_036847892L → P2 PublicationsCorresponds to variant dbSNP:rs429433Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB016816 mRNA Translation: BAA74737.1
AC090567 Genomic DNA No translation available.
BC014226 mRNA Translation: AAH14226.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS34844.1

NCBI Reference Sequences

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RefSeqi
NP_004216.2, NM_004225.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000276282; ENSP00000276282; ENSG00000147324

Database of genes from NCBI RefSeq genomes

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GeneIDi
9258

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9258

UCSC genome browser

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UCSCi
uc003wsj.2, human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ9Y4C4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114681, 95 interactors
IntActiQ9Y4C4, 94 interactors
MINTiQ9Y4C4
STRINGi9606.ENSP00000276282

PTM databases

iPTMnetiQ9Y4C4
PhosphoSitePlusiQ9Y4C4

Polymorphism and mutation databases

BioMutaiMFHAS1
DMDMi296437367

Proteomic databases

EPDiQ9Y4C4
jPOSTiQ9Y4C4
MassIVEiQ9Y4C4
MaxQBiQ9Y4C4
PaxDbiQ9Y4C4
PeptideAtlasiQ9Y4C4
PRIDEiQ9Y4C4
ProteomicsDBi86160

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
65867, 17 antibodies

The DNASU plasmid repository

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DNASUi
9258

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9258
DisGeNETi9258
EuPathDBiHostDB:ENSG00000147324.10

GeneCards: human genes, protein and diseases

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GeneCardsi
MFHAS1
HGNCiHGNC:16982, MFHAS1
HPAiENSG00000147324, Low tissue specificity
MIMi605352, gene
neXtProtiNX_Q9Y4C4
OpenTargetsiENSG00000147324
PharmGKBiPA30773

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0619, Eukaryota
GeneTreeiENSGT00940000158928
HOGENOMiCLU_320767_0_0_1
InParanoidiQ9Y4C4
OMAiAQFSCLQ
OrthoDBi1013039at2759
PhylomeDBiQ9Y4C4
TreeFamiTF351429

Enzyme and pathway databases

PathwayCommonsiQ9Y4C4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9258, 5 hits in 870 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MFHAS1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9258
PharosiQ9Y4C4, Tbio

Protein Ontology

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PROi
PR:Q9Y4C4
RNActiQ9Y4C4, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000147324, Expressed in saphenous vein and 234 other tissues
GenevisibleiQ9Y4C4, HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR027417, P-loop_NTPase
IPR020859, ROC_dom
PfamiView protein in Pfam
PF13855, LRR_8, 3 hits
SMARTiView protein in SMART
SM00369, LRR_TYP, 13 hits
SUPFAMiSSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51450, LRR, 12 hits
PS51424, ROC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMFHA1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y4C4
Secondary accession number(s): Q96CI0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: August 12, 2020
This is version 145 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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