MAD1L1 information

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)
End	2,233,243 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	140,321,552 bp
RNA expression pattern
	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
	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
	8379
	17120
	ENSG00000002822
	ENSMUSG00000029554
	Q9Y6D9
	Q9WTX8
NM_001013836; NM_001013837; NM_001304523; NM_001304524; NM_001304525;
	NM_003550
	NM_010752; NM_001359025; NM_001359027
NP_001013858; NP_001013859; NP_001291452; NP_001291453; NP_001291454;
	NP_003541
	NP_034882; NP_001345954; NP_001345956
	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]

^ ^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.
^ "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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000002822 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029554 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10049595-5] 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.

[pmid9546394-6] 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.

[entrez-7] "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".

[pmid22075116-8] 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.

MAD1L1 information

and 5 Related for: MAD1L1 information

MAD1L1

Human accelerated regions

BUB3

List of OMIM disorder codes

SNX8