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CENPX centromere protein X [ Homo sapiens (human) ]

Gene ID: 201254, updated on 15-Jun-2019

Summary

Official Symbol
CENPXprovided by HGNC
Official Full Name
centromere protein Xprovided by HGNC
Primary source
HGNC:HGNC:11422
See related
Ensembl:ENSG00000169689 MIM:615128
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D9; MHF2; CENP-X; FAAP10; STRA13
Expression
Ubiquitous expression in prostate (RPKM 17.1), colon (RPKM 14.3) and 25 other tissues See more
Orthologs

Genomic context

See CENPX in Genome Data Viewer
Location:
17q25.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (82018703..82022930, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79976579..79980786, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371939 Neighboring gene ASPSCR1 tether for SLC2A4, UBX domain containing Neighboring gene leucine rich repeat containing 45 Neighboring gene Rac family small GTPase 3

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystem (from REACTOME)
    Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Nucleosome assembly, organism-specific biosystem (from REACTOME)
    Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC14480

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
kinetochore assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein ubiquitination TAS
Traceable Author Statement
more info
PubMed 
replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
resolution of meiotic recombination intermediates IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
FANCM-MHF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FANCM-MHF complex IDA
Inferred from Direct Assay
more info
PubMed 
Fanconi anaemia nuclear complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
centromere protein X
Names
FANCM associated histone fold protein 2
FANCM-interacting histone fold protein 2
Fanconi anemia-associated polypeptide of 10 kDa
retinoic acid-inducible gene D9 protein homolog
stimulated by retinoic acid 13 homolog
stimulated by retinoic acid gene 13 protein homolog

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_001271006.2NP_001257935.1  centromere protein X isoform 1

    See identical proteins and their annotated locations for NP_001257935.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BQ648002, HY110543
    Consensus CDS
    CCDS59303.1
    UniProtKB/Swiss-Prot
    A8MT69
    Related
    ENSP00000376168.3, ENST00000392359.8
    Conserved Domains (1) summary
    pfam09415
    Location:1280
    CENP-X; CENP-S associating Centromere protein X
  2. NM_001271007.2NP_001257936.1  centromere protein X isoform 3

    See identical proteins and their annotated locations for NP_001257936.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC137723, BC011610
    Consensus CDS
    CCDS59302.1
    UniProtKB/Swiss-Prot
    A8MT69
    Related
    ENSP00000462015.1, ENST00000580435.5
    Conserved Domains (1) summary
    pfam09415
    Location:1256
    CENP-X; CENP-S associating Centromere protein X
  3. NM_001330536.2NP_001317465.1  centromere protein X isoform 4

    Status: VALIDATED

    Source sequence(s)
    BC011610, CB110145, HY070528, HY092955
    Consensus CDS
    CCDS82223.1
    UniProtKB/Swiss-Prot
    A8MT69
    UniProtKB/TrEMBL
    J3QRS1
    Related
    ENSP00000464357.1, ENST00000584347.1
    Conserved Domains (1) summary
    pfam09415
    Location:1246
    CENP-X; CENP-S associating Centromere protein X
  4. NM_144998.4NP_659435.2  centromere protein X isoform 2

    See identical proteins and their annotated locations for NP_659435.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC009571, BC011610
    Consensus CDS
    CCDS32772.1
    UniProtKB/Swiss-Prot
    A8MT69
    Related
    ENSP00000302951.6, ENST00000306704.10
    Conserved Domains (1) summary
    pfam09415
    Location:1262
    CENP-X; CENP-S associating Centromere protein X

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    82018703..82022930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024329.1XP_016879818.1  centromere protein X isoform X5

  2. XM_017024328.1XP_016879817.1  centromere protein X isoform X4

  3. XM_024450639.1XP_024306407.1  centromere protein X isoform X3

    Conserved Domains (1) summary
    pfam09415
    Location:1246
    CENP-X; CENP-S associating Centromere protein X
  4. XM_017024327.1XP_016879816.1  centromere protein X isoform X2

  5. XM_017024326.1XP_016879815.1  centromere protein X isoform X1

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