MAD1L1

Protein-coding gene in the species Homo sapiens

MAD1L1

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
4DZO, 1GO4

Identifiers

Aliases

MAD1L1, PIG9, TP53I9, TXBP181, MAD1, MAD1 mitotic arrest deficient like 1, mitotic arrest deficient 1 like 1

External IDs

OMIM: 602686; MGI: 1341857; HomoloGene: 74500; GeneCards: MAD1L1; OMA:MAD1L1 - orthologs

Gene location (Human)

Chr.	Chromosome 7 (human)^[1]

Band	7p22.3	Start	1,815,793 bp^[1]
Band	7p22.3	End	2,233,243 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5 G2\|5 78.82 cM	Start	140,008,689 bp^[2]
Band	5 G2\|5 78.82 cM	End	140,321,552 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sural nerve

right testis

left testis

granulocyte

putamen

blood

right lobe of liver

caudate nucleus

gonad

primary visual cortex

Top expressed in

secondary oocyte

blastocyst

ventricular zone

zygote

neural layer of retina

thymus

morula

yolk sac

tail of embryo

dentate gyrus of hippocampal formation granule cell

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding kinetochore binding identical protein binding
Cellular component	centrosome spindle pole spindle nuclear pore chromosome microtubule organizing center mitotic spindle chromosome, centromeric region cytoskeleton kinetochore cytoplasm mitotic spindle pole nuclear envelope nucleus cytosol nuclear pore nuclear basket
Biological process	regulation of mitotic cell cycle phase transition regulation of metaphase plate congression mitotic cell cycle checkpoint signaling thymus development cell division negative regulation of T cell proliferation cell cycle mitotic spindle assembly checkpoint signaling attachment of mitotic spindle microtubules to kinetochore
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


8379


17120

Ensembl


ENSG00000002822


ENSMUSG00000029554

UniProt


Q9Y6D9


Q9WTX8

RefSeq (mRNA)

NM_001013836 NM_001013837 NM_001304523 NM_001304524 NM_001304525
NM_003550


NM_010752 NM_001359025 NM_001359027

RefSeq (protein)

NP_001013858 NP_001013859 NP_001291452 NP_001291453 NP_001291454
NP_003541


NP_034882 NP_001345954 NP_001345956

Location (UCSC)

Chr 7: 1.82 – 2.23 Mb

Chr 5: 140.01 – 140.32 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Mitotic spindle assembly checkpoint protein MAD1 is a protein that in humans is encoded by the MAD1L1 gene.^[5]^[6]^[7]

MAD1L1 is also known as Human Accelerated Region 3. It may have played a key role in the evolution of humans from apes.^[8]

Function

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Some studies indicate associations of MAD1L1 with psychiatric disorders, including schizophrenia, bipolar disorder, and depression. ^[9]^[10]^[11] Three transcript variants encoding the same protein have been found for this gene.^[7]

Interactions

MAD1L1 has been shown to interact with:

HDAC1,^[12]
Histone deacetylase 2,^[12] and
MAD2L1,^[13]^[14]^[15]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000002822 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029554 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jin DY, Kozak CA, Pangilinan F, Spencer F, Green ED, Jeang KT (February 1999). "Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5". Genomics. 55 (3): 363–364. doi:10.1006/geno.1998.5654. PMID 10049595.
^ Jin DY, Spencer F, Jeang KT (April 1998). "Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1". Cell. 93 (1): 81–91. doi:10.1016/S0092-8674(00)81148-4. PMID 9546394. S2CID 7345931.
^ ^a ^b "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".
^ Kostka D, Hubisz MJ, Siepel A, Pollard KS (March 2012). "The role of GC-biased gene conversion in shaping the fastest evolving regions of the human genome". Molecular Biology and Evolution. 29 (3): 1047–1057. doi:10.1093/molbev/msr279. PMC 3278478. PMID 22075116.
^ Lam M, Chen CY, Li Z, Martin AR, Bryois J, Ma X, et al. (December 2019). "Comparative genetic architectures of schizophrenia in East Asian and European populations". Nature Genetics. 51 (12): 1670–1678. doi:10.1038/s41588-019-0512-x. PMC 6885121. PMID 31740837.
^ Hou L, Bergen SE, Akula N, Song J, Hultman CM, Landén M, et al. (August 2016). "Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder". Human Molecular Genetics. 25 (15): 3383–3394. doi:10.1093/hmg/ddw181. PMC 5179929. PMID 27329760.
^ Sokolov AV, Manu DM, Nordberg DO, Boström AD, Jokinen J, Schiöth HB (January 2023). "Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression". Clinical Epigenetics. 15 (1): 1. doi:10.1186/s13148-022-01394-5. PMC 9811786. PMID 36600305.
^ ^a ^b Yoon YM, Baek KH, Jeong SJ, Shin HJ, Ha GH, Jeon AH, et al. (September 2004). "WD repeat-containing mitotic checkpoint proteins act as transcriptional repressors during interphase". FEBS Letters. 575 (1–3): 23–29. doi:10.1016/j.febslet.2004.07.089. PMID 15388328. S2CID 21762011.
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
^ Sironi L, Melixetian M, Faretta M, Prosperini E, Helin K, Musacchio A (November 2001). "Mad2 binding to Mad1 and Cdc20, rather than oligomerization, is required for the spindle checkpoint". The EMBO Journal. 20 (22): 6371–6382. doi:10.1093/emboj/20.22.6371. PMC 125308. PMID 11707408.
^ Murakumo Y, Roth T, Ishii H, Rasio D, Numata S, Croce CM, Fishel R (February 2000). "A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2". The Journal of Biological Chemistry. 275 (6): 4391–4397. doi:10.1074/jbc.275.6.4391. PMID 10660610.