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Protein

Ankyrin repeat domain-containing protein 53

Gene

ANKRD53

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

Functioni

Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization.1 Publication

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • mitotic metaphase plate congression Source: UniProtKB
  • positive regulation of microtubule polymerization Source: UniProtKB
  • regulation of mitotic cytokinesis Source: UniProtKB
  • regulation of mitotic spindle organization Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, Mitosis

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 53
Gene namesi
Name:ANKRD53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144031.11.
HGNCiHGNC:25691. ANKRD53.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000144031.
PharmGKBiPA144596517.

Polymorphism and mutation databases

BioMutaiANKRD53.
DMDMi387912915.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002744901 – 530Ankyrin repeat domain-containing protein 53Add BLAST530

Post-translational modificationi

Phosphorylated during mitosis (PubMed:26820536).1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N9V6.
PeptideAtlasiQ8N9V6.
PRIDEiQ8N9V6.

PTM databases

iPTMnetiQ8N9V6.
PhosphoSitePlusiQ8N9V6.

Expressioni

Gene expression databases

BgeeiENSG00000144031.
CleanExiHS_ANKRD53.
ExpressionAtlasiQ8N9V6. baseline and differential.
GenevisibleiQ8N9V6. HS.

Organism-specific databases

HPAiHPA049574.

Interactioni

Subunit structurei

Interacts with PSRC1; recruited by PSRC1 to the spindle during mitosis (PubMed:26820536).1 Publication

Protein-protein interaction databases

BioGridi123057. 1 interactor.
IntActiQ8N9V6. 2 interactors.
STRINGi9606.ENSP00000353796.

Structurei

3D structure databases

ProteinModelPortaliQ8N9V6.
SMRiQ8N9V6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati139 – 169ANK 1Add BLAST31
Repeati173 – 206ANK 2Add BLAST34
Repeati210 – 239ANK 3Add BLAST30

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000005650.
HOGENOMiHOG000168815.
HOVERGENiHBG080857.
InParanoidiQ8N9V6.
KOiK21441.
OMAiCKPIDYC.
OrthoDBiEOG091G0IOQ.
PhylomeDBiQ8N9V6.
TreeFamiTF351267.

Family and domain databases

CDDicd00204. ANK. 1 hit.
Gene3Di1.25.40.20. 2 hits.
InterProiView protein in InterPro
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR036770. Ankyrin_rpt-contain_sf.
PfamiView protein in Pfam
PF12796. Ank_2. 1 hit.
SMARTiView protein in SMART
SM00248. ANK. 3 hits.
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiView protein in PROSITE
PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N9V6-1) [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
MASAGSTARR AGSGSWHSER GEGRGARPQP TPSGSMQQAN KVSLKATWTD
60 70 80 90 100
AESKQPSQPL PDLADHLSAQ ATALARPRRP ASLTPPRADP SPSKESDQTA
110 120 130 140 150
IDQTAIGSYY QLFAAAVGNV EWLRFCLNQS LREIPTDDKG FTAIHFAAQW
160 170 180 190 200
GKLACLQVLV EEYKFPVDLL TNNSQTPLHL VIHRDNTTVA LPCIYYLLEK
210 220 230 240 250
GADLNAQTCN GSTPLHLAAR DGLLDCVKVL VQSGANVHAQ DAMGYKPIDF
260 270 280 290 300
CKIWNHRACA RFLKDAMWKK DKKDFAREMT KMKMFKSQLT LMEHNYLIEY
310 320 330 340 350
QKEHKILREA AIRKWLHGKL HPGHSLVSNT KQARATALSK TPEQRESQRS
360 370 380 390 400
RSFHPSVDAR LQCIPQPTEM PKPIYRKPTV KRPTMWNVSN NPARPPTTQI
410 420 430 440 450
SHSQGIRLGV HPDPTPEHDF SSFLEVRPDG HGGARLHTVD GHWVAPVPRL
460 470 480 490 500
PFEVLLRMLY PRVWPYRMKV PQGFYPISMR EVPRKRHLGD NTFWTDTLAM
510 520 530
NLRDTFDEAF LAAVRSHQGL PTLPSPQTNP
Length:530
Mass (Da):59,571
Last modified:May 16, 2012 - v3
Checksum:iEE6803C7A1DF349F
GO
Isoform 2 (identifier: Q8N9V6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-343: KEHKILREAA...RATALSKTPE → GQGCSVHFPF...FLWRRRELSF
     344-530: Missing.

Note: No experimental confirmation available.
Show »
Length:343
Mass (Da):38,200
Checksum:iD2DC537C27940A62
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti523L → P in BAC04181 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061018105A → G. Corresponds to variant dbSNP:rs35096506Ensembl.1
Natural variantiVAR_030300153L → I1 PublicationCorresponds to variant dbSNP:rs17853403Ensembl.1
Natural variantiVAR_054427243M → T. Corresponds to variant dbSNP:rs36123544Ensembl.1
Natural variantiVAR_067464349R → L. Corresponds to variant dbSNP:rs11688921Ensembl.1
Natural variantiVAR_067465431H → L1 PublicationCorresponds to variant dbSNP:rs3796100Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022768302 – 343KEHKI…SKTPE → GQGCSVHFPFAFSPITPETL LWQDISLLSDCGFLWRRREL SF in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_022769344 – 530Missing in isoform 2. 1 PublicationAdd BLAST187

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093479 mRNA. Translation: BAC04181.1.
AC007040 Genomic DNA. No translation available.
BC035234 mRNA. Translation: AAH35234.1.
CCDSiCCDS1913.1. [Q8N9V6-2]
CCDS46321.1. [Q8N9V6-1]
RefSeqiNP_001108588.1. NM_001115116.1. [Q8N9V6-1]
NP_079209.3. NM_024933.3. [Q8N9V6-2]
UniGeneiHs.512744.

Genome annotation databases

EnsembliENST00000272421; ENSP00000272421; ENSG00000144031. [Q8N9V6-2]
ENST00000360589; ENSP00000353796; ENSG00000144031. [Q8N9V6-1]
GeneIDi79998.
KEGGihsa:79998.
UCSCiuc002shk.5. human. [Q8N9V6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiANR53_HUMAN
AccessioniPrimary (citable) accession number: Q8N9V6
Secondary accession number(s): Q8IYP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: May 16, 2012
Last modified: October 25, 2017
This is version 110 of the entry and version 3 of the sequence. See 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 2
    Human chromosome 2: 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