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Protein

Kinetochore-associated protein NSL1 homolog

Gene

NSL1

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

Functioni

Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-68877. Mitotic Prometaphase.

Names & Taxonomyi

Protein namesi
Recommended name:
Kinetochore-associated protein NSL1 homolog
Gene namesi
Name:NSL1
Synonyms:C1orf48
ORF Names:DC31, DC8, MIS14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24548. NSL1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • MIS12/MIND type complex Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162398188.

Polymorphism and mutation databases

BioMutaiNSL1.
DMDMi147744577.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 281281Kinetochore-associated protein NSL1 homologPRO_0000089260Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei4 – 41PhosphoserineCombined sources
Modified residuei244 – 2441PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96IY1.
MaxQBiQ96IY1.
PaxDbiQ96IY1.
PeptideAtlasiQ96IY1.
PRIDEiQ96IY1.

PTM databases

iPTMnetiQ96IY1.
PhosphoSiteiQ96IY1.

Expressioni

Gene expression databases

BgeeiENSG00000117697.
CleanExiHS_NSL1.
ExpressionAtlasiQ96IY1. baseline and differential.
GenevisibleiQ96IY1. HS.

Organism-specific databases

HPAiHPA045761.
HPA053721.

Interactioni

Subunit structurei

Component of the MIS12 complex composed of MIS12, DSN1, NSL1/DC8 and PMF1. Interacts with CASC5.2 Publications

Protein-protein interaction databases

BioGridi117433. 32 interactions.
IntActiQ96IY1. 18 interactions.
MINTiMINT-4989137.
STRINGi9606.ENSP00000355944.

Structurei

Secondary structure

1
281
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni267 – 2693Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NF9X-ray2.80C/D256-281[»]
ProteinModelPortaliQ96IY1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IXS8. Eukaryota.
ENOG41125EG. LUCA.
GeneTreeiENSGT00390000001374.
HOGENOMiHOG000113863.
HOVERGENiHBG080948.
InParanoidiQ96IY1.
KOiK11545.
OMAiIEQGDGF.
OrthoDBiEOG091G0LWG.
PhylomeDBiQ96IY1.
TreeFamiTF333388.

Family and domain databases

InterProiIPR013950. Kinetochore_Mis14.
[Graphical view]
PfamiPF08641. Mis14. 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: Q96IY1-1) [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
MAGSPELVVL DPPWDKELAA GTESQALVSA TPREDFRVRC TSKRAVTEML
60 70 80 90 100
QLCGRFVQKL GDALPEEIRE PALRDAQWTF ESAVQENISI NGQAWQEASD
110 120 130 140 150
NCFMDSDIKV LEDQFDEIIV DIATKRKQYP RKILECVIKT IKAKQEILKQ
160 170 180 190 200
YHPVVHPLDL KYDPDPAPHM ENLKCRGETV AKEISEAMKS LPALIEQGEG
210 220 230 240 250
FSQVLRMQPV IHLQRIHQEV FSSCHRKPDA KPENFITQIE TTPTETASRK
260 270 280
TSDMVLKRKQ TKDCPQRKWY PLRPKKINLD T
Length:281
Mass (Da):32,162
Last modified:May 15, 2007 - v3
Checksum:iF9FB4379BAFF2626
GO
Isoform 2 (identifier: Q96IY1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     167-281: APHMENLKCR...LRPKKINLDT → VLNGNAFNFS...QRGNSSKGDQ

Show »
Length:213
Mass (Da):24,108
Checksum:iD3C6861CF654274C
GO

Sequence cautioni

The sequence AAF86877 differs from that shown. Reason: Frameshift at position 41. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41S → F.1 Publication
Corresponds to variant rs17856201 [ dbSNP | Ensembl ].
VAR_051243
Natural varianti254 – 2541M → V.2 Publications
Corresponds to variant rs15702 [ dbSNP | Ensembl ].
VAR_016005

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei167 – 281115APHME…INLDT → VLNGNAFNFSPFNMMLAVDL SYMVFITSSPSYGKFEMQRG NSSKGDQ in isoform 2. CuratedVSP_045741Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF201941 mRNA. Translation: AAF86877.1. Frameshift.
AF255793 mRNA. Translation: AAG44640.1.
AL591647, AC104333 Genomic DNA. Translation: CAI17046.1.
BC007067 mRNA. Translation: AAH07067.1.
AL050084 mRNA. Translation: CAB43260.1.
CCDSiCCDS1509.1. [Q96IY1-1]
CCDS53474.1. [Q96IY1-2]
PIRiT08737.
RefSeqiNP_001036014.1. NM_001042549.1. [Q96IY1-2]
NP_056286.3. NM_015471.3. [Q96IY1-1]
UniGeneiHs.497692.

Genome annotation databases

EnsembliENST00000366977; ENSP00000355944; ENSG00000117697. [Q96IY1-1]
ENST00000626725; ENSP00000486783; ENSG00000117697. [Q96IY1-2]
GeneIDi25936.
KEGGihsa:25936.
UCSCiuc001hjn.4. human. [Q96IY1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF201941 mRNA. Translation: AAF86877.1. Frameshift.
AF255793 mRNA. Translation: AAG44640.1.
AL591647, AC104333 Genomic DNA. Translation: CAI17046.1.
BC007067 mRNA. Translation: AAH07067.1.
AL050084 mRNA. Translation: CAB43260.1.
CCDSiCCDS1509.1. [Q96IY1-1]
CCDS53474.1. [Q96IY1-2]
PIRiT08737.
RefSeqiNP_001036014.1. NM_001042549.1. [Q96IY1-2]
NP_056286.3. NM_015471.3. [Q96IY1-1]
UniGeneiHs.497692.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NF9X-ray2.80C/D256-281[»]
ProteinModelPortaliQ96IY1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117433. 32 interactions.
IntActiQ96IY1. 18 interactions.
MINTiMINT-4989137.
STRINGi9606.ENSP00000355944.

PTM databases

iPTMnetiQ96IY1.
PhosphoSiteiQ96IY1.

Polymorphism and mutation databases

BioMutaiNSL1.
DMDMi147744577.

Proteomic databases

EPDiQ96IY1.
MaxQBiQ96IY1.
PaxDbiQ96IY1.
PeptideAtlasiQ96IY1.
PRIDEiQ96IY1.

Protocols and materials databases

DNASUi25936.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366977; ENSP00000355944; ENSG00000117697. [Q96IY1-1]
ENST00000626725; ENSP00000486783; ENSG00000117697. [Q96IY1-2]
GeneIDi25936.
KEGGihsa:25936.
UCSCiuc001hjn.4. human. [Q96IY1-1]

Organism-specific databases

CTDi25936.
GeneCardsiNSL1.
HGNCiHGNC:24548. NSL1.
HPAiHPA045761.
HPA053721.
MIMi609174. gene.
neXtProtiNX_Q96IY1.
PharmGKBiPA162398188.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXS8. Eukaryota.
ENOG41125EG. LUCA.
GeneTreeiENSGT00390000001374.
HOGENOMiHOG000113863.
HOVERGENiHBG080948.
InParanoidiQ96IY1.
KOiK11545.
OMAiIEQGDGF.
OrthoDBiEOG091G0LWG.
PhylomeDBiQ96IY1.
TreeFamiTF333388.

Enzyme and pathway databases

ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-68877. Mitotic Prometaphase.

Miscellaneous databases

ChiTaRSiNSL1. human.
GeneWikiiNSL1.
GenomeRNAii25936.
PROiQ96IY1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117697.
CleanExiHS_NSL1.
ExpressionAtlasiQ96IY1. baseline and differential.
GenevisibleiQ96IY1. HS.

Family and domain databases

InterProiIPR013950. Kinetochore_Mis14.
[Graphical view]
PfamiPF08641. Mis14. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNSL1_HUMAN
AccessioniPrimary (citable) accession number: Q96IY1
Secondary accession number(s): E7ETD5
, Q5SY75, Q9H2M5, Q9NRN8, Q9Y415
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: May 15, 2007
Last modified: September 7, 2016
This is version 124 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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.