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MAD2L1BP MAD2L1 binding protein [ Homo sapiens (human) ]

Gene ID: 9587, updated on 26-May-2016
Official Symbol
MAD2L1BPprovided by HGNC
Official Full Name
MAD2L1 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:21059
See related
Ensembl:ENSG00000124688 HPRD:10065; Vega:OTTHUMG00000014747
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMT2
Summary
The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Orthologs
Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (43629542..43640952)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43597279..43608689)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene polymerase (RNA) I subunit C Neighboring gene exportin 5 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene polymerase (DNA) eta Neighboring gene GTP binding protein 2 Neighboring gene radial spoke head 9 homolog Neighboring gene mitochondrial ribosomal protein S18A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0110, MGC11282

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitotic cell cycle checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
MAD2L1-binding protein
Names
caught by MAD2 protein

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_001003690.1NP_001003690.1  MAD2L1-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001003690.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA883912, AL537692, BC002904, BE297042, BU845738
    Consensus CDS
    CCDS47431.1
    UniProtKB/Swiss-Prot
    Q15013
    Related
    ENSP00000410818, OTTHUMP00000221652, ENST00000451025, OTTHUMT00000368050
    Conserved Domains (1) summary
    pfam06581
    Location:70306
    p31comet; Mad1 and Cdc20-bound-Mad2 binding
  2. NM_014628.2NP_055443.1  MAD2L1-binding protein isoform 2

    See identical proteins and their annotated locations for NP_055443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant differs in the 5' region compared to variant 1, which includes a part of the coding sequence. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AA883912, BC002904, BI255998, CB991410
    Consensus CDS
    CCDS4904.1
    UniProtKB/Swiss-Prot
    Q15013
    Related
    ENSP00000361244, OTTHUMP00000016496, ENST00000372171, OTTHUMT00000040692
    Conserved Domains (1) summary
    pfam06581
    Location:38274
    p31comet; Mad1 and Cdc20-bound-Mad2 binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    43629542..43640952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    43600342..43611752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)