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UniProtKB - Q9Y6D9 (MD1L1_HUMAN)

Entry version 181 (12 Aug 2020)
Sequence version 2 (27 Sep 2004)
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Protein

Mitotic spindle assembly checkpoint protein MAD1

Gene

MAD1L1

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

Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding.3 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y6D9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-68877, Mitotic Prometaphase
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y6D9

<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:
Mitotic spindle assembly checkpoint protein MAD1
Alternative name(s):
Mitotic arrest deficient 1-like protein 1
Short name:
MAD1-like protein 1
Mitotic checkpoint MAD1 protein homolog
Short name:
HsMAD1
Short name:
hMAD1
Tax-binding protein 181
<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:MAD1L1
Synonyms:MAD1, TXBP181
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000002822.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:6762, MAD1L1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602686, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y6D9

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Cytoplasm, Cytoskeleton, Kinetochore, Nucleus

<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

Defects in MAD1L1 are involved in the development and/or progression of various types of cancer.2 Publications

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		8379

MalaCards human disease database

More...MalaCardsi		MAD1L1

Open Targets

More...OpenTargetsi		ENSG00000002822

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA372

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y6D9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAD1L1

Domain mapping of disease mutations (DMDM)

More...DMDMi		52783153

<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 '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_00002138001 – 718Mitotic spindle assembly checkpoint protein MAD1Add BLAST718

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 residuei1N-acetylmethionineCombined sources1
Modified residuei16PhosphoserineCombined sources1
Modified residuei61N6-acetyllysine; alternateCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki61Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei214PhosphoserineCombined sources1
Modified residuei428PhosphoserineCombined 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

Phosphorylated; by BUB1. Become hyperphosphorylated in late S through M phases or after mitotic spindle damage.2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y6D9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y6D9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y6D9

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

More...PaxDbi		Q9Y6D9

PeptideAtlas

More...PeptideAtlasi		Q9Y6D9

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6D9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3578
86656 [Q9Y6D9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6D9

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9Y6D9

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

More...PhosphoSitePlusi		Q9Y6D9

<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

Expressed weakly at G0/G1 and highly at late S and G2/M phase.

<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

Increased by p53/TP53.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000002822, Expressed in sural nerve and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y6D9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6D9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000002822, 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

Homodimer. Heterodimerizes with MAD2L1 in order to form a tetrameric MAD1L1-MAD2L1 core complex (PubMed:9546394, PubMed:18981471, PubMed:22351768, PubMed:12006501). Perturbation of the original MAD1L1-MAD2L1 structure by the spindle checkpoint may decrease MAD2L1 affinity for MAD1L1. CDC20 can compete with MAD1L1 for MAD2L1 binding, until the attachment and/or tension dampen the checkpoint signal, preventing further release of MAD2L1 on to CDC20. Also able to interact with the BUB1/BUB3 complex (PubMed:10198256).

Interacts with NEK2 (PubMed:14978040).

Interacts with TPR; the interactions occurs in a microtubule-independent manner (PubMed:18981471, PubMed:19273613, PubMed:20133940).

Interacts with IK (PubMed:22351768).

Interacts with the viral Tax protein (PubMed:9546394).

8 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

Hide details
Q9Y6D9
With#Exp.IntAct
ALOX5 [P09917]9EBI-742610,EBI-79934
ATG5 [Q9H1Y0]3EBI-742610,EBI-1047414
BAG5 [Q9UL15]7EBI-742610,EBI-356517
CAPN7 [Q9Y6W3]3EBI-742610,EBI-1765641
CCDC57 - isoform 2 [Q2TAC2-2]3EBI-742610,EBI-10961624
CCHCR1 - isoform 3 [Q8TD31-3]6EBI-742610,EBI-10175300
CDC37 [Q16543]3EBI-742610,EBI-295634
CDK18 [Q07002]3EBI-742610,EBI-746238
CENPE [Q02224]3EBI-742610,EBI-1375040
CWF19L2 [Q2TBE0]6EBI-742610,EBI-5453285
FAM90A1 [Q86YD7]3EBI-742610,EBI-6658203
GAS8 [O95995]3EBI-742610,EBI-1052570
GPKOW [Q92917]3EBI-742610,EBI-746309
HAUS1 [Q96CS2]3EBI-742610,EBI-2514791
KIF9 [Q9HAQ2]3EBI-742610,EBI-8472129
LENG1 [Q96BZ8]3EBI-742610,EBI-726510
LGALSL [Q3ZCW2]6EBI-742610,EBI-10241423
LMO1 [P25800]3EBI-742610,EBI-8639312
LMO3 - isoform 4 [Q8TAP4-4]3EBI-742610,EBI-11742507
LNX1 [Q8TBB1]3EBI-742610,EBI-739832
itself11EBI-742610,EBI-742610
MAD2L1 [Q13257]38EBI-742610,EBI-78203
MFAP1 [P55081]6EBI-742610,EBI-1048159
NEBL [O76041]7EBI-742610,EBI-2880203
PIBF1 [Q4G0R1]3EBI-742610,EBI-14066006
PPP1R18 [Q6NYC8]3EBI-742610,EBI-2557469
PSMA1 [P25786]3EBI-742610,EBI-359352
RNF8 [O76064]7EBI-742610,EBI-373337
SPATA18 [Q8TC71]3EBI-742610,EBI-11334239
SPATA2 [Q9UM82]3EBI-742610,EBI-744066
SYT17 [Q9BSW7]3EBI-742610,EBI-745392
SYT6 - isoform 2 [Q5T7P8-2]3EBI-742610,EBI-10246152
TCAF1 - isoform 2 [Q9Y4C2-2]3EBI-742610,EBI-11974855
TEX33 - isoform 2 [O43247-2]3EBI-742610,EBI-12093053
TPM1 [P09493]6EBI-742610,EBI-351158
TPM1 - isoform 10 [P09493-10]6EBI-742610,EBI-12123928
TPM3 [P06753]10EBI-742610,EBI-355607
TPM3 [Q5VU62]3EBI-742610,EBI-10184033
TPR [P12270]2EBI-742610,EBI-1048528
TRIM29 [Q14134]7EBI-742610,EBI-702370
TSC22D3 [Q99576]3EBI-742610,EBI-750174
TSC22D3 - isoform 2 [Q99576-3]3EBI-742610,EBI-10294415
TSGA10 [Q9BZW7]3EBI-742610,EBI-744794
TSHZ3 [Q63HK5]3EBI-742610,EBI-9053916
USP15 [Q9Y4E8]3EBI-742610,EBI-1043104
USP15 - isoform 2 [Q9Y4E8-2]3EBI-742610,EBI-12041225
WDYHV1 [Q96HA8]3EBI-742610,EBI-741158
YJU2 [Q9BW85]3EBI-742610,EBI-10300345
ZSCAN32 [Q9NX65]3EBI-742610,EBI-739949

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113971, 84 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-82, Mitotic spindle assembly checkpoint Mad1 complex
CPX-85, Mitotic spindle assembly checkpoint MAD1-MAD2 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y6D9

Database of interacting proteins

More...DIPi		DIP-29654N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9Y6D9

Protein interaction database and analysis system

More...IntActi		Q9Y6D9, 80 interactors

Molecular INTeraction database

More...MINTi		Q9Y6D9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000385334

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y6D9, 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

Secondary structure

1718
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9Y6D9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y6D9

<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

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>Regioni301 – 340Important for interaction with IK1 PublicationAdd BLAST40
Regioni380 – 532Necessary for interaction with NEK21 PublicationAdd BLAST153
Regioni439 – 480Important for interaction with IK1 PublicationAdd BLAST42

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili46 – 632Sequence analysisAdd BLAST587

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MAD1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4593, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001316

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023576_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6D9

KEGG Orthology (KO)

More...KOi		K06679

Identification of Orthologs from Complete Genome Data

More...OMAi		YMLLGYR

Database of Orthologous Groups

More...OrthoDBi		602490at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6D9

TreeFam database of animal gene trees

More...TreeFami		TF101083

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008672, Mad1

The PANTHER Classification System

More...PANTHERi		PTHR23168, PTHR23168, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05557, MAD, 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>Sequences (2+)i

<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.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6D9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEDLGENTMV LSTLRSLNNF ISQRVEGGSG LDISTSAPGS LQMQYQQSMQ 
        60         70         80         90        100
LEERAEQIRS KSHLIQVERE KMQMELSHKR ARVELERAAS TSARNYEREV 
       110        120        130        140        150
DRNQELLTRI RQLQEREAGA EEKMQEQLER NRQCQQNLDA ASKRLREKED 
       160        170        180        190        200
SLAQAGETIN ALKGRISELQ WSVMDQEMRV KRLESEKQEL QEQLDLQHKK 
       210        220        230        240        250
CQEANQKIQE LQASQEARAD HEQQIKDLEQ KLSLQEQDAA IVKNMKSELV 
       260        270        280        290        300
RLPRLERELK QLREESAHLR EMRETNGLLQ EELEGLQRKL GRQEKMQETL 
       310        320        330        340        350
VGLELENERL LAKLQSWERL DQTMGLSIRT PEDLSRFVVE LQQRELALKD 
       360        370        380        390        400
KNSAVTSSAR GLEKARQQLQ EELRQVSGQL LEERKKRETH EALARRLQKR 
       410        420        430        440        450
VLLLTKERDG MRAILGSYDS ELTPAEYSPQ LTRRMREAED MVQKVHSHSA 
       460        470        480        490        500
EMEAQLSQAL EELGGQKQRA DMLEMELKML KSQSSSAEQS FLFSREEADT 
       510        520        530        540        550
LRLKVEELEG ERSRLEEEKR MLEAQLERRA LQGDYDQSRT KVLHMSLNPT 
       560        570        580        590        600
SVARQRLRED HSQLQAECER LRGLLRAMER GGTVPADLEA AAASLPSSKE 
       610        620        630        640        650
VAELKKQVES AELKNQRLKE VFQTKIQEFR KACYTLTGYQ IDITTENQYR 
       660        670        680        690        700
LTSLYAEHPG DCLIFKATSP SGSKMQLLET EFSHTVGELI EVHLRRQDSI 
       710 
PAFLSSLTLE LFSRQTVA
Length:718
Mass (Da):83,067
Last modified:September 27, 2004 - 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:iDA65529856A37EE3
GO
Isoform 2 (identifier: Q9Y6D9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MEDLGENTMV...EQIRSKSHLI → MLPARGCVRK...PCIWPCPWHT
     66-157: Missing.

Show »
Length:626
Mass (Da):72,286
Checksum:iC0506A8710806387
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JJ38C9JJ38_HUMAN
Mitotic spindle assembly checkpoint...
MAD1L1
157Annotation score:

Annotation score:1 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>
C9JX80C9JX80_HUMAN
Mitotic spindle assembly checkpoint...
MAD1L1
80Annotation score:

Annotation score:1 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>
C9JIR0C9JIR0_HUMAN
Mitotic spindle assembly checkpoint...
MAD1L1
144Annotation score:

Annotation score:1 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>
C9JKI7C9JKI7_HUMAN
Mitotic spindle assembly checkpoint...
MAD1L1
122Annotation score:

Annotation score:1 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>
C9J9H5C9J9H5_HUMAN
Mitotic spindle assembly checkpoint...
MAD1L1
41Annotation score:

Annotation score:1 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC52059 differs from that shown. Reason: Frameshift.Curated

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 conflicti189 – 190EL → DV in AAC52059 (PubMed:9546394).Curated2
Sequence conflicti189 – 190EL → DV in AAD24498 (PubMed:10049595).Curated2
Sequence conflicti260K → E in AAC52059 (PubMed:9546394).Curated1
Sequence conflicti260K → E in AAD24498 (PubMed:10049595).Curated1
Sequence conflicti268Missing in AAC52059 (PubMed:9546394).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_01970729S → L in a lymphoid cancer cell line; somatic mutation. 1 Publication1
Natural variantiVAR_01970859R → C in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121908982EnsemblClinVar.1
Natural variantiVAR_019709160N → S1 PublicationCorresponds to variant dbSNP:rs550573452Ensembl.1
Natural variantiVAR_019710299T → A in lung cancer cell line; somatic mutation. 1 Publication1
Natural variantiVAR_019711360R → Q in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs769418574Ensembl.1
Natural variantiVAR_019712500T → M2 PublicationsCorresponds to variant dbSNP:rs193231481Ensembl.1
Natural variantiVAR_019713511E → K1 PublicationCorresponds to variant dbSNP:rs377555260Ensembl.1
Natural variantiVAR_019714516E → K in a breast cancer cell line; somatic mutation. 1 Publication1
Natural variantiVAR_019715556R → C in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs371561369Ensembl.1
Natural variantiVAR_019716556R → H in one individual with lung cancer. 1 PublicationCorresponds to variant dbSNP:rs755012008Ensembl.1
Natural variantiVAR_019717558R → H in a cancer cell line. 3 PublicationsCorresponds to variant dbSNP:rs1801368Ensembl.1
Natural variantiVAR_019718569E → K in a breast cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs201951163Ensembl.1
Natural variantiVAR_019719572R → H in a cancer cell line. 1 PublicationCorresponds to variant dbSNP:rs1801500Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0561601 – 65MEDLG…KSHLI → MLPARGCVRKRTVWPRLARV LIVTLLTLELSYAPLPCQLS GVPYNTGDPVGRWARPCIWP CPWHT in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_05616166 – 157Missing in isoform 2. 1 PublicationAdd BLAST92

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U33822 mRNA Translation: AAC52059.1 Frameshift.
AF123318 mRNA Translation: AAD20359.1
AF083811 mRNA Translation: AAD24498.1
AK090959 mRNA Translation: BAG52253.1
AC005282 Genomic DNA No translation available.
AC006433 Genomic DNA No translation available.
AC069288 Genomic DNA Translation: AAS07503.1
AC104129 Genomic DNA Translation: AAP21876.1
AC110781 Genomic DNA No translation available.
BC009964 mRNA Translation: AAH09964.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43539.1 [Q9Y6D9-1]
CCDS78201.1 [Q9Y6D9-3]

NCBI Reference Sequences

More...RefSeqi		NP_001013858.1, NM_001013836.1 [Q9Y6D9-1]
NP_001013859.1, NM_001013837.1 [Q9Y6D9-1]
NP_001291452.1, NM_001304523.1 [Q9Y6D9-1]
NP_001291453.1, NM_001304524.1 [Q9Y6D9-3]
NP_003541.2, NM_003550.2 [Q9Y6D9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265854; ENSP00000265854; ENSG00000002822 [Q9Y6D9-1]
ENST00000399654; ENSP00000382562; ENSG00000002822 [Q9Y6D9-1]
ENST00000402746; ENSP00000384155; ENSG00000002822 [Q9Y6D9-3]
ENST00000406869; ENSP00000385334; ENSG00000002822 [Q9Y6D9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8379

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8379

UCSC genome browser

More...UCSCi		uc003slf.2, human [Q9Y6D9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
U33822 mRNA Translation: AAC52059.1 Frameshift.
AF123318 mRNA Translation: AAD20359.1
AF083811 mRNA Translation: AAD24498.1
AK090959 mRNA Translation: BAG52253.1
AC005282 Genomic DNA No translation available.
AC006433 Genomic DNA No translation available.
AC069288 Genomic DNA Translation: AAS07503.1
AC104129 Genomic DNA Translation: AAP21876.1
AC110781 Genomic DNA No translation available.
BC009964 mRNA Translation: AAH09964.1
CCDSiCCDS43539.1 [Q9Y6D9-1]
CCDS78201.1 [Q9Y6D9-3]
RefSeqiNP_001013858.1, NM_001013836.1 [Q9Y6D9-1]
NP_001013859.1, NM_001013837.1 [Q9Y6D9-1]
NP_001291452.1, NM_001304523.1 [Q9Y6D9-1]
NP_001291453.1, NM_001304524.1 [Q9Y6D9-3]
NP_003541.2, NM_003550.2 [Q9Y6D9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GO4X-ray2.05E/F/G/H485-584[»]
4DZOX-ray1.76A/B597-718[»]
SMRiQ9Y6D9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113971, 84 interactors
ComplexPortaliCPX-82, Mitotic spindle assembly checkpoint Mad1 complex
CPX-85, Mitotic spindle assembly checkpoint MAD1-MAD2 complex
CORUMiQ9Y6D9
DIPiDIP-29654N
ELMiQ9Y6D9
IntActiQ9Y6D9, 80 interactors
MINTiQ9Y6D9
STRINGi9606.ENSP00000385334

PTM databases

iPTMnetiQ9Y6D9
MetOSiteiQ9Y6D9
PhosphoSitePlusiQ9Y6D9

Polymorphism and mutation databases

BioMutaiMAD1L1
DMDMi52783153

Proteomic databases

EPDiQ9Y6D9
jPOSTiQ9Y6D9
MassIVEiQ9Y6D9
PaxDbiQ9Y6D9
PeptideAtlasiQ9Y6D9
PRIDEiQ9Y6D9
ProteomicsDBi3578
86656 [Q9Y6D9-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1135, 390 antibodies

The DNASU plasmid repository

More...DNASUi		8379

Genome annotation databases

EnsembliENST00000265854; ENSP00000265854; ENSG00000002822 [Q9Y6D9-1]
ENST00000399654; ENSP00000382562; ENSG00000002822 [Q9Y6D9-1]
ENST00000402746; ENSP00000384155; ENSG00000002822 [Q9Y6D9-3]
ENST00000406869; ENSP00000385334; ENSG00000002822 [Q9Y6D9-1]
GeneIDi8379
KEGGihsa:8379
UCSCiuc003slf.2, human [Q9Y6D9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8379
DisGeNETi8379
EuPathDBiHostDB:ENSG00000002822.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAD1L1
HGNCiHGNC:6762, MAD1L1
HPAiENSG00000002822, Low tissue specificity
MalaCardsiMAD1L1
MIMi602686, gene
neXtProtiNX_Q9Y6D9
OpenTargetsiENSG00000002822
PharmGKBiPA372

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4593, Eukaryota
GeneTreeiENSGT00390000001316
HOGENOMiCLU_023576_1_0_1
InParanoidiQ9Y6D9
KOiK06679
OMAiYMLLGYR
OrthoDBi602490at2759
PhylomeDBiQ9Y6D9
TreeFamiTF101083

Enzyme and pathway databases

PathwayCommonsiQ9Y6D9
ReactomeiR-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-68877, Mitotic Prometaphase
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation
SIGNORiQ9Y6D9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8379, 27 hits in 876 CRISPR screens

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

More...ChiTaRSi		MAD1L1, human
EvolutionaryTraceiQ9Y6D9

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Mad1

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

More...GenomeRNAii		8379
PharosiQ9Y6D9, Tbio

Protein Ontology

More...PROi		PR:Q9Y6D9
RNActiQ9Y6D9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000002822, Expressed in sural nerve and 213 other tissues
ExpressionAtlasiQ9Y6D9, baseline and differential
GenevisibleiQ9Y6D9, HS

Family and domain databases

InterProiView protein in InterPro
IPR008672, Mad1
PANTHERiPTHR23168, PTHR23168, 1 hit
PfamiView protein in Pfam
PF05557, MAD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiMD1L1_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: Q9Y6D9
Secondary accession number(s): B3KR41
, Q13312, Q75MI0, Q86UM4, Q9UNH0
<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: September 27, 2004
Last sequence update: September 27, 2004
Last modified: August 12, 2020
This is version 181 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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