Format

Send to:

Choose Destination

MAD2L1BP MAD2L1 binding protein [ Homo sapiens (human) ]

Gene ID: 9587, updated on 21-Dec-2019

Summary

Official Symbol
MAD2L1BPprovided by HGNC
Official Full Name
MAD2L1 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:21059
See related
Ensembl:ENSG00000124688 MIM:618136
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]
Expression
Ubiquitous expression in bone marrow (RPKM 14.5), duodenum (RPKM 8.6) and 25 other tissues See more
Orthologs

Genomic context

See MAD2L1BP in Genome Data Viewer
Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 RNA polymerase I and III subunit C Neighboring gene exportin 5 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene DNA polymerase eta Neighboring gene GTP binding protein 2 Neighboring gene radial spoke head component 9 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene exosome component 8 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
MAD2L1-binding protein
Names
caught by MAD2 protein
p31(comet)

NCBI Reference Sequences (RefSeq)

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
    ENSP00000410818.2, ENST00000451025.6
    Conserved Domains (1) summary
    pfam06581
    Location:68306
    p31comet; Mad1 and Cdc20-bound-Mad2 binding
  2. NM_014628.3NP_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)
    BC002904, BI255998, CB991410
    Consensus CDS
    CCDS4904.1
    UniProtKB/Swiss-Prot
    Q15013
    Related
    ENSP00000361244.4, ENST00000372171.4
    Conserved Domains (1) summary
    pfam06581
    Location:36274
    p31comet; Mad1 and Cdc20-bound-Mad2 binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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