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Protein

Non-structural maintenance of chromosomes element 4 homolog A

Gene

NSMCE4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Is involved in positive regulation of response to DNA damage stimulus.1 Publication

GO - Biological processi

  • DNA recombination Source: UniProtKB-KW
  • DNA repair Source: UniProtKB-KW
  • positive regulation of response to DNA damage stimulus Source: UniProtKB
  • protein sumoylation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-3108214. SUMOylation of DNA damage response and repair proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
Non-structural maintenance of chromosomes element 4 homolog A
Short name:
NS4EA
Short name:
Non-SMC element 4 homolog A
Gene namesi
Name:NSMCE4A
Synonyms:C10orf86
ORF Names:PP4762
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:25935. NSMCE4A.

Subcellular locationi

GO - Cellular componenti

  • chromosome, telomeric region Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • Smc5-Smc6 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162398205.

Polymorphism and mutation databases

BioMutaiNSMCE4A.
DMDMi68565328.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 385385Non-structural maintenance of chromosomes element 4 homolog APRO_0000214101Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei345 – 3451PhosphothreonineCombined sources
Modified residuei377 – 3771PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXX6.
MaxQBiQ9NXX6.
PaxDbiQ9NXX6.
PeptideAtlasiQ9NXX6.
PRIDEiQ9NXX6.

PTM databases

iPTMnetiQ9NXX6.
PhosphoSiteiQ9NXX6.

Expressioni

Gene expression databases

BgeeiENSG00000107672.
CleanExiHS_NSMCE4A.
GenevisibleiQ9NXX6. HS.

Organism-specific databases

HPAiHPA037459.

Interactioni

Subunit structurei

Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5:SMC6 heterodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NSMCE3Q96MG72EBI-2557393,EBI-2557356

Protein-protein interaction databases

BioGridi120147. 32 interactions.
IntActiQ9NXX6. 12 interactions.
STRINGi9606.ENSP00000358019.

Structurei

3D structure databases

ProteinModelPortaliQ9NXX6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NSE4 family.Curated

Phylogenomic databases

eggNOGiKOG2866. Eukaryota.
COG5125. LUCA.
GeneTreeiENSGT00390000011476.
HOGENOMiHOG000088652.
HOVERGENiHBG107841.
InParanoidiQ9NXX6.
OMAiKMEESHQ.
OrthoDBiEOG091G0GO8.
PhylomeDBiQ9NXX6.
TreeFamiTF313999.

Family and domain databases

InterProiIPR027786. Nse4/EID.
IPR014854. Nse4_C.
IPR029225. Nse4_Nse3-bd.
[Graphical view]
PANTHERiPTHR16140. PTHR16140. 1 hit.
PfamiPF15412. Nse4-Nse3_bdg. 1 hit.
PF08743. Nse4_C. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NXX6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGDSSGRGP EGRGRGRDPH RDRTRSRSRS RSPLSPRSRR GSARERREAP
60 70 80 90 100
ERPSLEDTEP SDSGDEMMDP ASLEAEADQG LCRQIRHQYR ALINSVQQNR
110 120 130 140 150
EDILNAGDKL TEVLEEANTL FNEVSRAREA VLDAHFLVLA SDLGKEKAKQ
160 170 180 190 200
LRSDLSSFDM LRYVETLLTH MGVNPLEAEE LIRDEDSPDF EFIVYDSWKI
210 220 230 240 250
TGRTAENTFN KTHTFHFLLG SIYGECPVPK PRVDRPRKVP VIQEERAMPA
260 270 280 290 300
QLRRMEESHQ EATEKEVERI LGLLQTYFRE DPDTPMSFFD FVVDPHSFPR
310 320 330 340 350
TVENIFHVSF IIRDGFARIR LDQDRLPVIE PVSINEENEG FEHNTQVRNQ
360 370 380
GIIALSYRDW EEIVKTFEIS EPVITPSQRQ QKPSA
Length:385
Mass (Da):44,301
Last modified:July 5, 2005 - v2
Checksum:i8BB8C54C8A6D0A1E
GO
Isoform 2 (identifier: Q9NXX6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     282-316: PDTPMSFFDFVVDPHSFPRTVENIFHVSFIIRDGF → RDSLTLSPRLECSGTISTHCNLHLLDSSNSPASAS
     317-385: Missing.

Note: No experimental confirmation available.
Show »
Length:316
Mass (Da):35,859
Checksum:i7045FBC70BA77996
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti145 – 1451K → I in BAA90881 (PubMed:14702039).Curated
Sequence conflicti361 – 3611Missing in AAH62427 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721S → T.
Corresponds to variant rs1065683 [ dbSNP | Ensembl ].
VAR_057657

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei282 – 31635PDTPM…IRDGF → RDSLTLSPRLECSGTISTHC NLHLLDSSNSPASAS in isoform 2. 2 PublicationsVSP_014601Add
BLAST
Alternative sequencei317 – 38569Missing in isoform 2. 2 PublicationsVSP_014602Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000010 mRNA. Translation: BAA90881.1.
AK222487 mRNA. Translation: BAD96207.1.
AL731566 Genomic DNA. Translation: CAI14816.1.
AL731566 Genomic DNA. Translation: CAI14817.1.
BC005212 mRNA. Translation: AAH05212.1.
BC062427 mRNA. Translation: AAH62427.1.
AF258584 mRNA. Translation: AAG23787.1.
CCDSiCCDS7624.1. [Q9NXX6-1]
RefSeqiNP_001161337.1. NM_001167865.1.
NP_060085.2. NM_017615.2. [Q9NXX6-1]
UniGeneiHs.258798.

Genome annotation databases

EnsembliENST00000369017; ENSP00000358013; ENSG00000107672. [Q9NXX6-2]
ENST00000369023; ENSP00000358019; ENSG00000107672. [Q9NXX6-1]
GeneIDi54780.
KEGGihsa:54780.
UCSCiuc001lfs.4. human. [Q9NXX6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000010 mRNA. Translation: BAA90881.1.
AK222487 mRNA. Translation: BAD96207.1.
AL731566 Genomic DNA. Translation: CAI14816.1.
AL731566 Genomic DNA. Translation: CAI14817.1.
BC005212 mRNA. Translation: AAH05212.1.
BC062427 mRNA. Translation: AAH62427.1.
AF258584 mRNA. Translation: AAG23787.1.
CCDSiCCDS7624.1. [Q9NXX6-1]
RefSeqiNP_001161337.1. NM_001167865.1.
NP_060085.2. NM_017615.2. [Q9NXX6-1]
UniGeneiHs.258798.

3D structure databases

ProteinModelPortaliQ9NXX6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120147. 32 interactions.
IntActiQ9NXX6. 12 interactions.
STRINGi9606.ENSP00000358019.

PTM databases

iPTMnetiQ9NXX6.
PhosphoSiteiQ9NXX6.

Polymorphism and mutation databases

BioMutaiNSMCE4A.
DMDMi68565328.

Proteomic databases

EPDiQ9NXX6.
MaxQBiQ9NXX6.
PaxDbiQ9NXX6.
PeptideAtlasiQ9NXX6.
PRIDEiQ9NXX6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369017; ENSP00000358013; ENSG00000107672. [Q9NXX6-2]
ENST00000369023; ENSP00000358019; ENSG00000107672. [Q9NXX6-1]
GeneIDi54780.
KEGGihsa:54780.
UCSCiuc001lfs.4. human. [Q9NXX6-1]

Organism-specific databases

CTDi54780.
GeneCardsiNSMCE4A.
HGNCiHGNC:25935. NSMCE4A.
HPAiHPA037459.
MIMi612987. gene.
neXtProtiNX_Q9NXX6.
PharmGKBiPA162398205.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2866. Eukaryota.
COG5125. LUCA.
GeneTreeiENSGT00390000011476.
HOGENOMiHOG000088652.
HOVERGENiHBG107841.
InParanoidiQ9NXX6.
OMAiKMEESHQ.
OrthoDBiEOG091G0GO8.
PhylomeDBiQ9NXX6.
TreeFamiTF313999.

Enzyme and pathway databases

ReactomeiR-HSA-3108214. SUMOylation of DNA damage response and repair proteins.

Miscellaneous databases

GeneWikiiNSMCE4A.
GenomeRNAii54780.
PROiQ9NXX6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107672.
CleanExiHS_NSMCE4A.
GenevisibleiQ9NXX6. HS.

Family and domain databases

InterProiIPR027786. Nse4/EID.
IPR014854. Nse4_C.
IPR029225. Nse4_Nse3-bd.
[Graphical view]
PANTHERiPTHR16140. PTHR16140. 1 hit.
PfamiPF15412. Nse4-Nse3_bdg. 1 hit.
PF08743. Nse4_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNSE4A_HUMAN
AccessioniPrimary (citable) accession number: Q9NXX6
Secondary accession number(s): Q5SQQ5
, Q6P673, Q8WY66, Q9BS90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: September 7, 2016
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.