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Protein

Protein zwilch homolog

Gene

ZWILCH

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

Functioni

Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131).1 Publication

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • mitotic cell cycle checkpoint Source: UniProtKB
  • mitotic nuclear division Source: UniProtKB-KW
  • sister chromatid cohesion Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174442-MONOMER.
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:
Protein zwilch homolog
Short name:
hZwilch
Gene namesi
Name:ZWILCH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25468. ZWILCH.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • cytosol Source: Reactome
  • kinetochore Source: MGI
  • RZZ complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore

Pathology & Biotechi

Organism-specific databases

DisGeNETi55055.
OpenTargetsiENSG00000174442.
PharmGKBiPA142670465.

Polymorphism and mutation databases

BioMutaiZWILCH.
DMDMi166228729.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148001 – 591Protein zwilch homologAdd BLAST591

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei88PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H900.
MaxQBiQ9H900.
PaxDbiQ9H900.
PeptideAtlasiQ9H900.
PRIDEiQ9H900.

PTM databases

iPTMnetiQ9H900.
PhosphoSitePlusiQ9H900.

Expressioni

Gene expression databases

BgeeiENSG00000174442.
CleanExiHS_ZWILCH.
ExpressionAtlasiQ9H900. baseline and differential.
GenevisibleiQ9H900. HS.

Organism-specific databases

HPAiHPA039386.

Interactioni

Subunit structurei

Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with KNTC1/ROD.3 Publications

Protein-protein interaction databases

BioGridi120376. 11 interactors.
DIPiDIP-36478N.
IntActiQ9H900. 2 interactors.
MINTiMINT-4989376.
STRINGi9606.ENSP00000311429.

Structurei

Secondary structure

1591
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 5Combined sources4
Helixi8 – 23Combined sources16
Beta strandi32 – 43Combined sources12
Helixi50 – 53Combined sources4
Beta strandi61 – 66Combined sources6
Helixi103 – 117Combined sources15
Beta strandi136 – 140Combined sources5
Beta strandi148 – 158Combined sources11
Beta strandi161 – 176Combined sources16
Helixi182 – 193Combined sources12
Beta strandi199 – 209Combined sources11
Beta strandi224 – 232Combined sources9
Beta strandi245 – 252Combined sources8
Helixi267 – 281Combined sources15
Helixi295 – 307Combined sources13
Helixi348 – 357Combined sources10
Helixi363 – 378Combined sources16
Helixi393 – 402Combined sources10
Helixi415 – 438Combined sources24
Helixi444 – 451Combined sources8
Beta strandi453 – 455Combined sources3
Helixi457 – 477Combined sources21
Turni478 – 480Combined sources3
Helixi485 – 501Combined sources17
Beta strandi510 – 513Combined sources4
Helixi517 – 522Combined sources6
Turni523 – 525Combined sources3
Beta strandi529 – 536Combined sources8
Beta strandi542 – 551Combined sources10
Beta strandi578 – 589Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3IF8X-ray2.55A1-334[»]
B335-591[»]
ProteinModelPortaliQ9H900.
SMRiQ9H900.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H900.

Family & Domainsi

Sequence similaritiesi

Belongs to the ZWILCH family.Curated

Phylogenomic databases

eggNOGiKOG4803. Eukaryota.
ENOG410Y8MB. LUCA.
GeneTreeiENSGT00390000013696.
HOGENOMiHOG000155813.
HOVERGENiHBG108779.
InParanoidiQ9H900.
KOiK11579.
OMAiNPLDEQH.
OrthoDBiEOG091G05A6.
PhylomeDBiQ9H900.
TreeFamiTF324453.

Family and domain databases

InterProiIPR018630. RZZ-complex_zwilch.
[Graphical view]
PfamiPF09817. DUF2352. 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: Q9H900-1) [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
MWERLNCAAE DFYSRLLQKF NEEKKGIRKD PFLYEADVQV QLISKGQPNP
60 70 80 90 100
LKNILNENDI VFIVEKVPLE KEETSHIEEL QSEETAISDF STGENVGPLA
110 120 130 140 150
LPVGKARQLI GLYTMAHNPN MTHLKINLPV TALPPLWVRC DSSDPEGTCW
160 170 180 190 200
LGAELITTNN SITGIVLYVV SCKADKNYSV NLENLKNLHK KRHHLSTVTS
210 220 230 240 250
KGFAQYELFK SSALDDTITA SQTAIALDIS WSPVDEILQI PPLSSTATLN
260 270 280 290 300
IKVESGEPRG PLNHLYRELK FLLVLADGLR TGVTEWLEPL EAKSAVELVQ
310 320 330 340 350
EFLNDLNKLD GFGDSTKKDT EVETLKHDTA AVDRSVKRLF KVRSDLDFAE
360 370 380 390 400
QLWCKMSSSV ISYQDLVKCF TLIIQSLQRG DIQPWLHSGS NSLLSKLIHQ
410 420 430 440 450
SYHGTMDTVS LSGTIPVQML LEIGLDKLKK DYISFFIGQE LASLNHLEYF
460 470 480 490 500
IAPSVDIQEQ VYRVQKLHHI LEILVSCMPF IKSQHELLFS LTQICIKYYK
510 520 530 540 550
QNPLDEQHIF QLPVRPTAVK NLYQSEKPQK WRVEIYSGQK KIKTVWQLSD
560 570 580 590
SSPIDHLNFH KPDFSELTLN GSLEERIFFT NMVTCSQVHF K
Length:591
Mass (Da):67,214
Last modified:January 15, 2008 - v2
Checksum:i522ECA229D2C0AE9
GO
Isoform 2 (identifier: Q9H900-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-114: Missing.

Show »
Length:477
Mass (Da):54,224
Checksum:i0443A2B101C275C1
GO

Sequence cautioni

The sequence AK000898 differs from that shown. Reason: Frameshift at position 248.Curated
The sequence AK000898 differs from that shown. Reason: Erroneous termination at position 366. Translated as Leu.Curated
The sequence BAB55133 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti239Q → R in CAE45821 (PubMed:17974005).Curated1
Sequence conflicti537S → R in BAB14446 (PubMed:14702039).Curated1
Sequence conflicti555D → G in AK000898 (PubMed:14702039).Curated1
Sequence conflicti570N → S in AK000898 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038055344S → G.Corresponds to variant rs11071896dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0303651 – 114Missing in isoform 2. 3 PublicationsAdd BLAST114

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000898 mRNA. No translation available.
AK023175 mRNA. Translation: BAB14446.1.
AK027468 mRNA. Translation: BAB55133.1. Different initiation.
AK122787 mRNA. Translation: BAG53730.1.
BX640701 mRNA. Translation: CAE45821.1.
CH471082 Genomic DNA. Translation: EAW77779.1.
BC036900 mRNA. Translation: AAH36900.1.
BC090041 mRNA. Translation: AAH90041.1.
CCDSiCCDS10219.1. [Q9H900-1]
CCDS73746.1. [Q9H900-2]
RefSeqiNP_001274750.1. NM_001287821.1. [Q9H900-2]
NP_001274751.1. NM_001287822.1. [Q9H900-2]
NP_001274752.1. NM_001287823.1. [Q9H900-2]
NP_060445.3. NM_017975.4. [Q9H900-1]
UniGeneiHs.21331.

Genome annotation databases

EnsembliENST00000307897; ENSP00000311429; ENSG00000174442. [Q9H900-1]
ENST00000446801; ENSP00000402217; ENSG00000174442. [Q9H900-2]
ENST00000535141; ENSP00000437749; ENSG00000174442. [Q9H900-2]
ENST00000565627; ENSP00000454737; ENSG00000174442. [Q9H900-2]
ENST00000613446; ENSP00000477955; ENSG00000174442. [Q9H900-2]
GeneIDi55055.
KEGGihsa:55055.
UCSCiuc002aqa.5. human. [Q9H900-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000898 mRNA. No translation available.
AK023175 mRNA. Translation: BAB14446.1.
AK027468 mRNA. Translation: BAB55133.1. Different initiation.
AK122787 mRNA. Translation: BAG53730.1.
BX640701 mRNA. Translation: CAE45821.1.
CH471082 Genomic DNA. Translation: EAW77779.1.
BC036900 mRNA. Translation: AAH36900.1.
BC090041 mRNA. Translation: AAH90041.1.
CCDSiCCDS10219.1. [Q9H900-1]
CCDS73746.1. [Q9H900-2]
RefSeqiNP_001274750.1. NM_001287821.1. [Q9H900-2]
NP_001274751.1. NM_001287822.1. [Q9H900-2]
NP_001274752.1. NM_001287823.1. [Q9H900-2]
NP_060445.3. NM_017975.4. [Q9H900-1]
UniGeneiHs.21331.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3IF8X-ray2.55A1-334[»]
B335-591[»]
ProteinModelPortaliQ9H900.
SMRiQ9H900.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120376. 11 interactors.
DIPiDIP-36478N.
IntActiQ9H900. 2 interactors.
MINTiMINT-4989376.
STRINGi9606.ENSP00000311429.

PTM databases

iPTMnetiQ9H900.
PhosphoSitePlusiQ9H900.

Polymorphism and mutation databases

BioMutaiZWILCH.
DMDMi166228729.

Proteomic databases

EPDiQ9H900.
MaxQBiQ9H900.
PaxDbiQ9H900.
PeptideAtlasiQ9H900.
PRIDEiQ9H900.

Protocols and materials databases

DNASUi55055.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307897; ENSP00000311429; ENSG00000174442. [Q9H900-1]
ENST00000446801; ENSP00000402217; ENSG00000174442. [Q9H900-2]
ENST00000535141; ENSP00000437749; ENSG00000174442. [Q9H900-2]
ENST00000565627; ENSP00000454737; ENSG00000174442. [Q9H900-2]
ENST00000613446; ENSP00000477955; ENSG00000174442. [Q9H900-2]
GeneIDi55055.
KEGGihsa:55055.
UCSCiuc002aqa.5. human. [Q9H900-1]

Organism-specific databases

CTDi55055.
DisGeNETi55055.
GeneCardsiZWILCH.
H-InvDBHIX0012366.
HGNCiHGNC:25468. ZWILCH.
HPAiHPA039386.
MIMi609984. gene.
neXtProtiNX_Q9H900.
OpenTargetsiENSG00000174442.
PharmGKBiPA142670465.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4803. Eukaryota.
ENOG410Y8MB. LUCA.
GeneTreeiENSGT00390000013696.
HOGENOMiHOG000155813.
HOVERGENiHBG108779.
InParanoidiQ9H900.
KOiK11579.
OMAiNPLDEQH.
OrthoDBiEOG091G05A6.
PhylomeDBiQ9H900.
TreeFamiTF324453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174442-MONOMER.
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

EvolutionaryTraceiQ9H900.
GenomeRNAii55055.
PROiQ9H900.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174442.
CleanExiHS_ZWILCH.
ExpressionAtlasiQ9H900. baseline and differential.
GenevisibleiQ9H900. HS.

Family and domain databases

InterProiIPR018630. RZZ-complex_zwilch.
[Graphical view]
PfamiPF09817. DUF2352. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZWILC_HUMAN
AccessioniPrimary (citable) accession number: Q9H900
Secondary accession number(s): B3KVB8
, Q6N049, Q8N404, Q96SY7, Q9NWG7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 2, 2016
This is version 109 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

Miscellaneous

ZWILCH gene is deleted in a patient suffering from colorectal cancer with chromosomal instability.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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
  6. 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.