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Mad1l1 MAD1 mitotic arrest deficient 1-like 1 [ Mus musculus (house mouse) ]

Gene ID: 17120, updated on 8-Dec-2022

Summary

Official Symbol
Mad1l1provided by MGI
Official Full Name
MAD1 mitotic arrest deficient 1-like 1provided by MGI
Primary source
MGI:MGI:1341857
See related
Ensembl:ENSMUSG00000029554 AllianceGenome:MGI:1341857
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mad1
Summary
Predicted to enable identical protein binding activity and kinetochore binding activity. Acts upstream of or within negative regulation of T cell proliferation; regulation of mitotic cell cycle phase transition; and thymus development. Located in cytoplasm; kinetochore; and spindle pole. Human ortholog(s) of this gene implicated in lymphoma and prostate cancer. Orthologous to human MAD1L1 (mitotic arrest deficient 1 like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 39.3), ovary adult (RPKM 12.6) and 28 other tissues See more
Orthologs
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Genomic context

See Mad1l1 in Genome Data Viewer
Location:
5 G2; 5 78.82 cM
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (139994444..140307346, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (140008689..140321608, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38727 Neighboring gene leucine rich repeat and fibronectin type III, extracellular 1 Neighboring gene predicted gene, 30492 Neighboring gene nudix hydrolase 1 Neighboring gene mitochondrial rRNA methyltransferase 2 Neighboring gene sorting nexin 8

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables kinetochore binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of MAD1 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of MAD1 complex ISO
Inferred from Sequence Orthology
more info
 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with kinetochore ISO
Inferred from Sequence Orthology
more info
 
located_in kinetochore ISO
Inferred from Sequence Orthology
more info
 
is_active_in mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitotic spindle ISO
Inferred from Sequence Orthology
more info
 
part_of mitotic spindle assembly checkpoint MAD1-MAD2 complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of mitotic spindle assembly checkpoint MAD1-MAD2 complex ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with mitotic spindle pole ISO
Inferred from Sequence Orthology
more info
 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
part_of nuclear pore nuclear basket ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mitotic spindle assembly checkpoint protein MAD1
Names
MAD1-like protein 1
mitotic arrest deficient 1-like 1
mitotic arrest deficient 1-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359025.1NP_001345954.1  mitotic spindle assembly checkpoint protein MAD1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC121856, AC131670, AC137511, AC145748
    Consensus CDS
    CCDS19817.1
    UniProtKB/Swiss-Prot
    Q9WTX9
    UniProtKB/TrEMBL
    A0A8C6II81
    Conserved Domains (1) summary
    pfam05557
    Location:54715
    MAD; Mitotic checkpoint protein
  2. NM_001359027.1NP_001345956.1  mitotic spindle assembly checkpoint protein MAD1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC121856, AC145748
    UniProtKB/TrEMBL
    Q3TDV6
    Related
    ENSMUST00000199237.5
    Conserved Domains (1) summary
    cl25732
    Location:29292
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_010752.3NP_034882.2  mitotic spindle assembly checkpoint protein MAD1 isoform a

    See identical proteins and their annotated locations for NP_034882.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AF083812, BI735882
    Consensus CDS
    CCDS19817.1
    UniProtKB/Swiss-Prot
    Q9WTX8, Q9WTX9
    UniProtKB/TrEMBL
    A0A8C6II81
    Related
    ENSMUSP00000031534.7, ENSMUST00000031534.9
    Conserved Domains (1) summary
    pfam05557
    Location:54715
    MAD; Mitotic checkpoint protein

RNA

  1. NR_152617.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC131670, AF083813
    Related
    ENSMUST00000110829.7

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    139994444..140307346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006504652.5XP_006504715.1  mitotic spindle assembly checkpoint protein MAD1 isoform X4

    UniProtKB/TrEMBL
    A0A8C6N4R0
    Conserved Domains (1) summary
    pfam05557
    Location:54668
    MAD; Mitotic checkpoint protein
  2. XM_036164843.1XP_036020736.1  mitotic spindle assembly checkpoint protein MAD1 isoform X5

    Conserved Domains (1) summary
    pfam05557
    Location:19355
    MAD; Mitotic checkpoint protein
  3. XM_036164841.1XP_036020734.1  mitotic spindle assembly checkpoint protein MAD1 isoform X3

    Conserved Domains (1) summary
    pfam05557
    Location:54618
    MAD; Mitotic checkpoint protein
  4. XM_036164842.1XP_036020735.1  mitotic spindle assembly checkpoint protein MAD1 isoform X3

    Conserved Domains (1) summary
    pfam05557
    Location:54618
    MAD; Mitotic checkpoint protein
  5. XM_036164838.1XP_036020731.1  mitotic spindle assembly checkpoint protein MAD1 isoform X1

    Conserved Domains (1) summary
    pfam05557
    Location:54665
    MAD; Mitotic checkpoint protein
  6. XM_036164839.1XP_036020732.1  mitotic spindle assembly checkpoint protein MAD1 isoform X1

    Conserved Domains (1) summary
    pfam05557
    Location:54665
    MAD; Mitotic checkpoint protein
  7. XM_036164840.1XP_036020733.1  mitotic spindle assembly checkpoint protein MAD1 isoform X2

    Conserved Domains (1) summary
    pfam05557
    Location:54665
    MAD; Mitotic checkpoint protein