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NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component [ Homo sapiens (human) ]

Gene ID: 54780, updated on 13-Mar-2020

Summary

Official Symbol
NSMCE4Aprovided by HGNC
Official Full Name
NSE4 homolog A, SMC5-SMC6 complex componentprovided by HGNC
Primary source
HGNC:HGNC:25935
See related
Ensembl:ENSG00000107672 MIM:612987
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
NS4EA; NSE4A; C10orf86
Expression
Ubiquitous expression in prostate (RPKM 10.0), fat (RPKM 9.2) and 25 other tissues See more
Orthologs

Genomic context

See NSMCE4A in Genome Data Viewer
Location:
10q26.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (121957088..121975228, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (123716603..123734743, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 5 Neighboring gene arginyltransferase 1 Neighboring gene ATE1 antisense RNA 1 Neighboring gene transforming acidic coiled-coil containing protein 2 Neighboring gene Sharpr-MPRA regulatory regions 8460 and 2354 Neighboring gene Sharpr-MPRA regulatory regions 1076 and 11287

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20003

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Smc5-Smc6 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Smc5-Smc6 complex IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
non-structural maintenance of chromosomes element 4 homolog A
Names
NSE4 homolog, SMC5-SMC6 complex component A
non-SMC element 4 homolog A

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_001167865.2NP_001161337.1  non-structural maintenance of chromosomes element 4 homolog A isoform 2

    See identical proteins and their annotated locations for NP_001161337.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL731566, BC062427
    UniProtKB/Swiss-Prot
    Q9NXX6
    Conserved Domains (2) summary
    pfam08743
    Location:286373
    Nse4_C; Nse4 C-terminal
    pfam15412
    Location:133185
    Nse4-Nse3_bdg; Binding domain of Nse4/EID3 to Nse3-MAGE
  2. NM_017615.3NP_060085.2  non-structural maintenance of chromosomes element 4 homolog A isoform 1

    See identical proteins and their annotated locations for NP_060085.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK000010, AL731566, DA567626
    Consensus CDS
    CCDS7624.1
    UniProtKB/Swiss-Prot
    Q9NXX6
    Related
    ENSP00000358019.3, ENST00000369023.8
    Conserved Domains (2) summary
    pfam08743
    Location:286374
    Nse4_C; Nse4 C-terminal
    pfam15412
    Location:133185
    Nse4-Nse3_bdg; Binding domain of Nse4/EID3 to Nse3-MAGE

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    121957088..121975228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269930.4XP_005269987.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    See identical proteins and their annotated locations for XP_005269987.1

    Conserved Domains (1) summary
    pfam08743
    Location:127215
    Nse4_C; Nse4 C-terminal
  2. XM_005269929.4XP_005269986.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    See identical proteins and their annotated locations for XP_005269986.1

    Conserved Domains (1) summary
    pfam08743
    Location:127215
    Nse4_C; Nse4 C-terminal
  3. XM_011539910.2XP_011538212.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    See identical proteins and their annotated locations for XP_011538212.1

    Conserved Domains (1) summary
    pfam08743
    Location:127215
    Nse4_C; Nse4 C-terminal
  4. XM_017016359.1XP_016871848.1  non-structural maintenance of chromosomes element 4 homolog A isoform X1

    Conserved Domains (1) summary
    pfam08743
    Location:127215
    Nse4_C; Nse4 C-terminal

RNA

  1. XR_428706.3 RNA Sequence

  2. XR_001747117.1 RNA Sequence

  3. XR_001747116.1 RNA Sequence

  4. XR_001747115.1 RNA Sequence

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