MAD1L1

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

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
kinetochore binding
Source: UniProtKB
Inferred from direct assayⁱ
- 18981471
- 22351768

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

attachment of mitotic spindle microtubules to kinetochore
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
cell division Source: UniProtKB-KW
mitotic cell cycle checkpoint
Source: UniProtKB
Non-traceable author statementⁱ
- 9546394
mitotic spindle assembly checkpoint
Source: UniProtKB
Inferred from direct assayⁱ
- 18981471
negative regulation of T cell proliferation Source: Ensembl
regulation of metaphase plate congression
Source: UniProtKB
Inferred from direct assayⁱ
- 20133940
thymus development Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell cycle, Cell division, Mitosis

Biological process

Cell cycle, Cell division, Mitosis

Enzyme and pathway databases

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
SIGNORⁱ	Q9Y6D9

Names & Taxonomyⁱ

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
Gene namesⁱ	Name:MAD1L1 Synonyms:MAD1, TXBP181
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000002822.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6762 MAD1L1
MIMⁱ	602686 gene
neXtProtⁱ	NX_Q9Y6D9

Keywords - Cellular componentⁱ

Centromere, Chromosome, Cytoplasm, Cytoskeleton, Kinetochore, Nucleus

Pathology & Biotechⁱ

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
PharmGKBⁱ	PA372

Polymorphism and mutation databases

BioMutaⁱ	MAD1L1
DMDMⁱ	52783153

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000213800	1 – 718	Mitotic spindle assembly checkpoint protein MAD1Add BLAST		718

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	1	N-acetylmethionineCombined sources	1
Modified residueⁱ	16	PhosphoserineCombined sources	1
Modified residueⁱ	61	N6-acetyllysine; alternateCombined sources	1
Cross-linkⁱ	61	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residueⁱ	214	PhosphoserineCombined sources	1
Modified residueⁱ	428	PhosphoserineCombined sources	1

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

EPDⁱ	Q9Y6D9
PaxDbⁱ	Q9Y6D9
PeptideAtlas More...PeptideAtlasⁱ	Q9Y6D9
PRIDEⁱ	Q9Y6D9
ProteomicsDBⁱ	86656

PTM databases

iPTMnetⁱ	Q9Y6D9
PhosphoSitePlusⁱ	Q9Y6D9

Expressionⁱ

Tissue specificityⁱ

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

Inductionⁱ

Increased by p53/TP53.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000002822 Expressed in 200 organ(s), highest expression level in right testis
CleanExⁱ	HS_MAD1L1
ExpressionAtlasⁱ	Q9Y6D9 baseline and differential
Genevisibleⁱ	Q9Y6D9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB015338 HPA003635

HPAⁱ

CAB015338
HPA003635

Interactionⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		11	EBI-742610,EBI-742610
ALOX5	P09917	8	EBI-742610,EBI-79934
BAG5	Q9UL15	6	EBI-742610,EBI-356517
CCHCR1	Q8TD31-3	5	EBI-742610,EBI-10175300
CENPE	Q02224-2	2	EBI-742610,EBI-11108893
CWF19L2	Q2TBE0	5	EBI-742610,EBI-5453285
HAUS1	Q96CS2	3	EBI-742610,EBI-2514791
LGALSL	Q3ZCW2	5	EBI-742610,EBI-10241423
MAD2L1	Q13257	23	EBI-742610,EBI-78203
MFAP1	P55081	5	EBI-742610,EBI-1048159
NEBL	O76041	5	EBI-742610,EBI-2880203
PSMA1	P25786	3	EBI-742610,EBI-359352
RNF8	O76064	5	EBI-742610,EBI-373337
SPATA2	Q9UM82	3	EBI-742610,EBI-744066
TPM1	P09493	6	EBI-742610,EBI-351158
TPM1	P09493-10	5	EBI-742610,EBI-12123928
TPM3	P06753	9	EBI-742610,EBI-355607
TPM3	Q5VU62	3	EBI-742610,EBI-10184033
TPR	P12270	2	EBI-742610,EBI-1048528
TRIM29	Q14134	6	EBI-742610,EBI-702370
TSC22D3	Q99576-3	3	EBI-742610,EBI-10294415
TSHZ3	Q63HK5	3	EBI-742610,EBI-9053916
USP15	Q9Y4E8	3	EBI-742610,EBI-1043104
YJU2	Q9BW85	3	EBI-742610,EBI-10300345
ZSCAN32	I3L3J2	3	EBI-742610,EBI-10178206

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	113971, 75 interactors
ComplexPortalⁱ	CPX-82 Mitotic spindle assembly checkpoint Mad1 complex CPX-85 Mitotic spindle assembly checkpoint MAD1-MAD2 complex
CORUMⁱ	Q9Y6D9
Database of interacting proteins More...DIPⁱ	DIP-29654N
ELMⁱ	Q9Y6D9
IntActⁱ	Q9Y6D9, 69 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y6D9
STRINGⁱ	9606.ENSP00000265854

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	487 – 492	Combined sources	6
Helixⁱ	494 – 528	Combined sources	35
Turnⁱ	537 – 539	Combined sources	3
Beta strandⁱ	540 – 547	Combined sources	8
Helixⁱ	549 – 575	Combined sources	27
Turnⁱ	580 – 582	Combined sources	3
Helixⁱ	599 – 637	Combined sources	39
Beta strandⁱ	638 – 644	Combined sources	7
Turnⁱ	645 – 647	Combined sources	3
Beta strandⁱ	648 – 653	Combined sources	6
Beta strandⁱ	663 – 667	Combined sources	5
Beta strandⁱ	675 – 678	Combined sources	4
Helixⁱ	683 – 685	Combined sources	3
Helixⁱ	687 – 693	Combined sources	7
Helixⁱ	700 – 715	Combined sources	16

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9Y6D9
SMRⁱ	Q9Y6D9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9Y6D9

EvolutionaryTraceⁱ

Q9Y6D9

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	301 – 340	Important for interaction with IK1 PublicationAdd BLAST	40
Regionⁱ	380 – 532	Necessary for interaction with NEK21 PublicationAdd BLAST	153
Regionⁱ	439 – 480	Important for interaction with IK1 PublicationAdd BLAST	42

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	46 – 632	Sequence analysisAdd BLAST		587

Sequence similaritiesⁱ

Belongs to the MAD1 family.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG4593 Eukaryota ENOG410ZCEV LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000001316
HOGENOMⁱ	HOG000004808
HOVERGENⁱ	HBG052441
InParanoidⁱ	Q9Y6D9
KEGG Orthology (KO) More...KOⁱ	K06638
OMAⁱ	YMLLGYR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0IXP
PhylomeDBⁱ	Q9Y6D9
TreeFamⁱ	TF101083

Family and domain databases

InterProⁱ	View protein in InterPro IPR008672 Mad1
PANTHERⁱ	PTHR23168 PTHR23168, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF05557 MAD, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show all Align All

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

This isoform has been chosen as the 'canonical' 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

Checksum:ⁱDA65529856A37EE3

GO

Isoform 2 (identifier: Q9Y6D9-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MLPARGCVRK RTVWPRLARV LIVTLLTLEL SYAPLPCQLS GVPYNTGDPV 
        60         70         80         90        100
GRWARPCIWP CPWHTTINAL KGRISELQWS VMDQEMRVKR LESEKQELQE 
       110        120        130        140        150
QLDLQHKKCQ EANQKIQELQ ASQEARADHE QQIKDLEQKL SLQEQDAAIV 
       160        170        180        190        200
KNMKSELVRL PRLERELKQL REESAHLREM RETNGLLQEE LEGLQRKLGR 
       210        220        230        240        250
QEKMQETLVG LELENERLLA KLQSWERLDQ TMGLSIRTPE DLSRFVVELQ 
       260        270        280        290        300
QRELALKDKN SAVTSSARGL EKARQQLQEE LRQVSGQLLE ERKKRETHEA 
       310        320        330        340        350
LARRLQKRVL LLTKERDGMR AILGSYDSEL TPAEYSPQLT RRMREAEDMV 
       360        370        380        390        400
QKVHSHSAEM EAQLSQALEE LGGQKQRADM LEMELKMLKS QSSSAEQSFL 
       410        420        430        440        450
FSREEADTLR LKVEELEGER SRLEEEKRML EAQLERRALQ GDYDQSRTKV 
       460        470        480        490        500
LHMSLNPTSV ARQRLREDHS QLQAECERLR GLLRAMERGG TVPADLEAAA 
       510        520        530        540        550
ASLPSSKEVA ELKKQVESAE LKNQRLKEVF QTKIQEFRKA CYTLTGYQID 
       560        570        580        590        600
ITTENQYRLT SLYAEHPGDC LIFKATSPSG SKMQLLETEF SHTVGELIEV 
       610        620 
HLRRQDSIPA FLSSLTLELF SRQTVA

Note: No experimental confirmation available.

Show »

Length:626

Mass (Da):72,286

Checksum:ⁱC0506A8710806387

GO

Computationally mapped potential isoform sequencesⁱ

There are 9 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

C9JP81	C9JP81_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	266	Annotation score:
C9JTA2	C9JTA2_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	205	Annotation score:
C9K086	C9K086_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	213	Annotation score:
C9JKI7	C9JKI7_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	122	Annotation score:
C9JPS1	C9JPS1_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	199	Annotation score:
C9JX80	C9JX80_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	80	Annotation score:
C9JJ38	C9JJ38_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	157	Annotation score:
C9JIR0	C9JIR0_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	144	Annotation score:
C9J9H5	C9J9H5_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD1	MAD1L1	41	Annotation score:

Sequence cautionⁱ

The sequence AAC52059 differs from that shown. Reason: Frameshift at position 663.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	189 – 190	EL → DV in AAC52059 (PubMed:9546394).Curated	2
Sequence conflictⁱ	189 – 190	EL → DV in AAD24498 (PubMed:10049595).Curated	2
Sequence conflictⁱ	260	K → E in AAC52059 (PubMed:9546394).Curated	1
Sequence conflictⁱ	260	K → E in AAD24498 (PubMed:10049595).Curated	1
Sequence conflictⁱ	268	Missing in AAC52059 (PubMed:9546394).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_019707	29	S → L in a lymphoid cancer cell line; somatic mutation. 1 Publication	1
Natural variantⁱVAR_019708	59	R → C in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121908982EnsemblClinVar.	1
Natural variantⁱVAR_019709	160	N → S1 PublicationCorresponds to variant dbSNP:rs550573452Ensembl.	1
Natural variantⁱVAR_019710	299	T → A in lung cancer cell line; somatic mutation. 1 Publication	1
Natural variantⁱVAR_019711	360	R → Q in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs769418574Ensembl.	1
Natural variantⁱVAR_019712	500	T → M2 PublicationsCorresponds to variant dbSNP:rs193231481Ensembl.	1
Natural variantⁱVAR_019713	511	E → K1 PublicationCorresponds to variant dbSNP:rs377555260Ensembl.	1
Natural variantⁱVAR_019714	516	E → K in a breast cancer cell line; somatic mutation. 1 Publication	1
Natural variantⁱVAR_019715	556	R → C in a prostate cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs371561369Ensembl.	1
Natural variantⁱVAR_019716	556	R → H in one individual with lung cancer. 1 PublicationCorresponds to variant dbSNP:rs755012008Ensembl.	1
Natural variantⁱVAR_019717	558	R → H in a cancer cell line. 3 PublicationsCorresponds to variant dbSNP:rs1801368Ensembl.	1
Natural variantⁱVAR_019718	569	E → K in a breast cancer cell line; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs201951163Ensembl.	1
Natural variantⁱVAR_019719	572	R → H in a cancer cell line. 1 PublicationCorresponds to variant dbSNP:rs1801500Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_056160	1 – 65	MEDLG…KSHLI → MLPARGCVRKRTVWPRLARV LIVTLLTLELSYAPLPCQLS GVPYNTGDPVGRWARPCIWP CPWHT in isoform 2. 1 PublicationAdd BLAST		65
Alternative sequenceⁱVSP_056161	66 – 157	Missing in isoform 2. 1 PublicationAdd BLAST		92

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
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]
UniGeneⁱ	Hs.654838

Genome annotation databases

Ensemblⁱ	ENST00000265854; ENSP00000265854; ENSG00000002822 [Q9Y6D9-1] ENST00000399654; ENSP00000382562; ENSG00000002822 [Q9Y6D9-1] ENST00000402746; ENSP00000384155; ENSG00000002822 [Q9Y6D9-3] ENST00000406869; ENSP00000385334; ENSG00000002822 [Q9Y6D9-1]
GeneIDⁱ	8379
KEGGⁱ	hsa:8379
UCSC genome browser More...UCSCⁱ	uc003slf.2 human [Q9Y6D9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6D9	Uncharacterized protein		COLAP		725	UniRef90_Q9Y6D9
Uncharacterized protein		MACMU		718
Uncharacterized protein		CHLSB		718
Uncharacterized protein		RHIRO		718
Uncharacterized protein		RHIBE		718
+51
Q9Y6D9-3	MAD1L1 isoform 5		PANTR		626	UniRef90_Q9Y6D9-3
MAD1L1 isoform 5		PONAB		626
Uncharacterized protein		PANPA		626
Mitotic spindle assembly checkpoint protein MAD1 (Fragment)		HUMAN		213
Mitotic spindle assembly checkpoint protein MAD1 (Fragment)		HUMAN		205
+3

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6D9	Uncharacterized protein		COLAP		725	UniRef50_Q9Y6D9
Uncharacterized protein		RHIRO		718
Uncharacterized protein		RHIBE		718
MAD1 mitotic arrest deficient-like 1		PANTR		718
Uncharacterized protein		PANPA		718
+56
Q9Y6D9-3	Mitotic spindle assembly checkpoint protein MAD1		CRIGR		717	UniRef50_Q9Y6D9-3
Mitotic spindle assembly checkpoint protein MAD1		MOUSE		717
MAD1L1 isoform 5		PANTR		626
MAD1L1 isoform 5		PONAB		626
Uncharacterized protein		PANPA		626
+171

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
CCDSⁱ	CCDS43539.1 [Q9Y6D9-1] CCDS78201.1 [Q9Y6D9-3]
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]
UniGeneⁱ	Hs.654838

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1GO4	X-ray	2.05	E/F/G/H	485-584	[»]
	4DZO	X-ray	1.76	A/B	597-718	[»]
ProteinModelPortalⁱ	Q9Y6D9
SMRⁱ	Q9Y6D9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113971, 75 interactors
ComplexPortalⁱ	CPX-82 Mitotic spindle assembly checkpoint Mad1 complex CPX-85 Mitotic spindle assembly checkpoint MAD1-MAD2 complex
CORUMⁱ	Q9Y6D9
DIPⁱ	DIP-29654N
ELMⁱ	Q9Y6D9
IntActⁱ	Q9Y6D9, 69 interactors
MINTⁱ	Q9Y6D9
STRINGⁱ	9606.ENSP00000265854

PTM databases

iPTMnetⁱ	Q9Y6D9
PhosphoSitePlusⁱ	Q9Y6D9

Polymorphism and mutation databases

BioMutaⁱ	MAD1L1
DMDMⁱ	52783153

Proteomic databases

EPDⁱ	Q9Y6D9
PaxDbⁱ	Q9Y6D9
PeptideAtlasⁱ	Q9Y6D9
PRIDEⁱ	Q9Y6D9
ProteomicsDBⁱ	86656

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	8379
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000265854; ENSP00000265854; ENSG00000002822 [Q9Y6D9-1] ENST00000399654; ENSP00000382562; ENSG00000002822 [Q9Y6D9-1] ENST00000402746; ENSP00000384155; ENSG00000002822 [Q9Y6D9-3] ENST00000406869; ENSP00000385334; ENSG00000002822 [Q9Y6D9-1]
GeneIDⁱ	8379
KEGGⁱ	hsa:8379
UCSCⁱ	uc003slf.2 human [Q9Y6D9-1]

Organism-specific databases

CTDⁱ	8379
DisGeNETⁱ	8379
EuPathDBⁱ	HostDB:ENSG00000002822.15
GeneCardsⁱ	MAD1L1
HGNCⁱ	HGNC:6762 MAD1L1
HPAⁱ	CAB015338 HPA003635
MalaCardsⁱ	MAD1L1
MIMⁱ	602686 gene
neXtProtⁱ	NX_Q9Y6D9
OpenTargetsⁱ	ENSG00000002822
PharmGKBⁱ	PA372
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4593 Eukaryota ENOG410ZCEV LUCA
GeneTreeⁱ	ENSGT00390000001316
HOGENOMⁱ	HOG000004808
HOVERGENⁱ	HBG052441
InParanoidⁱ	Q9Y6D9
KOⁱ	K06638
OMAⁱ	YMLLGYR
OrthoDBⁱ	EOG091G0IXP
PhylomeDBⁱ	Q9Y6D9
TreeFamⁱ	TF101083

Enzyme and pathway databases

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
SIGNORⁱ	Q9Y6D9

Miscellaneous databases

ChiTaRSⁱ	MAD1L1 human
EvolutionaryTraceⁱ	Q9Y6D9
GeneWikiⁱ	Mad1
GenomeRNAiⁱ	8379
Protein Ontology More...PROⁱ	PR:Q9Y6D9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000002822 Expressed in 200 organ(s), highest expression level in right testis
CleanExⁱ	HS_MAD1L1
ExpressionAtlasⁱ	Q9Y6D9 baseline and differential
Genevisibleⁱ	Q9Y6D9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR008672 Mad1
PANTHERⁱ	PTHR23168 PTHR23168, 1 hit
Pfamⁱ	View protein in Pfam PF05557 MAD, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MD1L1_HUMAN
Accessionⁱ	Q9Y6D9Primary (citable) accession number: Q9Y6D9 Secondary accession number(s): B3KR41 , Q13312, Q75MI0, Q86UM4, Q9UNH0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	September 27, 2004
	Last sequence update:	September 27, 2004
	Last modified:	November 7, 2018
	This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM

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UniProtKB - Q9Y6D9 (MD1L1_HUMAN)

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Mitotic spindle assembly checkpoint protein MAD1

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<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

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GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

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Cytoskeleton

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Keywords - Cellular componenti

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Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

Coiled coil

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ