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Protein

Cytoskeleton-associated protein 2-like

Gene

CKAP2L

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

Functioni

Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Cytoskeleton-associated protein 2-like
Alternative name(s):
Radial fiber and mitotic spindle protein
Short name:
Radmis
Gene namesi
Name:CKAP2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000169607.12
HGNCiHGNC:26877 CKAP2L
MIMi616174 gene
neXtProtiNX_Q8IYA6

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

Involvement in diseasei

Filippi syndrome (FLPIS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities.
See also OMIM:272440

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi198K → R: Abrogates sumoylation. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi150468
MalaCardsiCKAP2L
MIMi272440 phenotype
OpenTargetsiENSG00000169607
Orphaneti3255 Filippi syndrome
PharmGKBiPA144596448

Polymorphism and mutation databases

BioMutaiCKAP2L
DMDMi311033474

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003243351 – 745Cytoskeleton-associated protein 2-likeAdd BLAST745

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki198Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross-linki198Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei204Phosphotyrosine1 Publication1
Modified residuei742PhosphothreonineCombined sources1
Modified residuei745PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C).By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8IYA6
MaxQBiQ8IYA6
PaxDbiQ8IYA6
PeptideAtlasiQ8IYA6
PRIDEiQ8IYA6
ProteomicsDBi71132
71133 [Q8IYA6-2]

PTM databases

iPTMnetiQ8IYA6
PhosphoSitePlusiQ8IYA6

Expressioni

Inductioni

Expression is cell-cycle dependent. Undetectable in interphase and prophase, strong expression at the spindle pole throughout metaphase to telophase.1 Publication

Gene expression databases

BgeeiENSG00000169607 Expressed in 80 organ(s), highest expression level in testis
CleanExiHS_CKAP2L
ExpressionAtlasiQ8IYA6 baseline and differential
GenevisibleiQ8IYA6 HS

Organism-specific databases

HPAiHPA039407
HPA040057
HPA070737

Interactioni

Protein-protein interaction databases

BioGridi127298, 4 interactors
IntActiQ8IYA6, 3 interactors
STRINGi9606.ENSP00000305204

Structurei

3D structure databases

ProteinModelPortaliQ8IYA6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi185 – 187KEN boxBy similarity3

Domaini

The KEN box is required for the association with the APC/C-Cdh1 complex, ubiquitination and degradation.By similarity

Sequence similaritiesi

Belongs to the CKAP2 family.Curated

Phylogenomic databases

eggNOGiENOG410IGXX Eukaryota
ENOG4111T8P LUCA
GeneTreeiENSGT00530000063691
HOGENOMiHOG000111753
HOVERGENiHBG107704
InParanoidiQ8IYA6
KOiK16769
OMAiQDMKLIT
OrthoDBiEOG091G05HU
PhylomeDBiQ8IYA6
TreeFamiTF333003

Family and domain databases

InterProiView protein in InterPro
IPR029197 CKAP2_C
IPR026165 CKAP2_fam
PANTHERiPTHR16076 PTHR16076, 1 hit
PfamiView protein in Pfam
PF15297 CKAP2_C, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IYA6-1) [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
MVGPGPTAAA AVEERQRKLQ EYLAAKGKLK SQNTKPYLKS KNNCQNQPPS
60 70 80 90 100
KSTIRPKNDV TNHVVLPVKP KRSISIKLQP RPPNTAGSQK PKLEPPKLLG
110 120 130 140 150
KRLTSECVSS NPYSKPSSKS FQQCEAGSST TGELSRKPVG SLNIEQLKTT
160 170 180 190 200
KQQLTDQGNG KCIDFMNNIH VENESLDNFL KETNKENLLD ILTEPERKPD
210 220 230 240 250
PKLYTRSKPK TDSYNQTKNS LVPKQALGKS SVNSAVLKDR VNKQFVGETQ
260 270 280 290 300
SRTFPVKSQQ LSRGADLARP GVKPSRTVPS HFIRTLSKVQ SSKKPVVKNI
310 320 330 340 350
KDIKVNRSQY ERPNETKIRS YPVTEQRVKH TKPRTYPSLL QGEYNNRHPN
360 370 380 390 400
IKQDQKSSQV CIPQTSCVLQ KSKAISQRPN LTVGRFNSAI PSTPSIRPNG
410 420 430 440 450
TSGNKHNNNG FQQKAQTLDS KLKKAVPQNH FLNKTAPKTQ ADVTTVNGTQ
460 470 480 490 500
TNPNIKKKAT AEDRRKQLEE WQKSKGKTYK RPPMELKTKR KVIKEMNISF
510 520 530 540 550
WKSIEKEEEE KKAQLELSSK INNTLTECLN LIEGGVPSNE ILNILSSIPE
560 570 580 590 600
AEKFAKFWIC KAKLLASKGT FDVIGLYEEA IKNGATPIQE LRKVVLNILQ
610 620 630 640 650
DSNRTTEGIT SDSLVAETSI TSVEELAKKM ESVKSCLSPK EREQVTATPR
660 670 680 690 700
IAKAEQHNYP GIKLQIGPIP RINGMPEVQD MKFITPVRRS SRIERAVSRY
710 720 730 740
PEMLQEHDLV VASLDELLEV EETKCFIFRR NEALPVTLGF QTPES
Length:745
Mass (Da):83,587
Last modified:November 2, 2010 - v4
Checksum:i46FE794CD9EBADD9
GO
Isoform 2 (identifier: Q8IYA6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-411: Missing.
     412-412: Q → M

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):37,806
Checksum:i303A71394E91CA62
GO
Isoform 3 (identifier: Q8IYA6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.

Note: No experimental confirmation available.
Show »
Length:580
Mass (Da):65,611
Checksum:i904AA6C1F0C1D27F
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WBE0F8WBE0_HUMAN
Cytoskeleton-associated protein 2-l...
CKAP2L
188Annotation score:

Sequence cautioni

The sequence AAX93053 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti375I → A in BAH14612 (PubMed:14702039).Curated1
Sequence conflicti531L → P in BAC05202 (PubMed:14702039).Curated1
Sequence conflicti615V → A in BAF85219 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03973519L → F. Corresponds to variant dbSNP:rs36093393Ensembl.1
Natural variantiVAR_03973626K → R. Corresponds to variant dbSNP:rs35593767EnsemblClinVar.1
Natural variantiVAR_03973762N → S1 PublicationCorresponds to variant dbSNP:rs17042344Ensembl.1
Natural variantiVAR_039738104T → I. Corresponds to variant dbSNP:rs13007595Ensembl.1
Natural variantiVAR_039739263R → S1 PublicationCorresponds to variant dbSNP:rs17042341Ensembl.1
Natural variantiVAR_039740375I → V2 PublicationsCorresponds to variant dbSNP:rs6731822Ensembl.1
Natural variantiVAR_039741379P → A. Corresponds to variant dbSNP:rs2676126Ensembl.1
Natural variantiVAR_039742519S → G. Corresponds to variant dbSNP:rs36046436Ensembl.1
Natural variantiVAR_039743614L → S. Corresponds to variant dbSNP:rs3811040Ensembl.1
Natural variantiVAR_039744706E → D. Corresponds to variant dbSNP:rs3811039Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0322191 – 411Missing in isoform 2. 1 PublicationAdd BLAST411
Alternative sequenceiVSP_0537171 – 165Missing in isoform 3. 1 PublicationAdd BLAST165
Alternative sequenceiVSP_032220412Q → M in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097948 mRNA Translation: BAC05202.1
AK292530 mRNA Translation: BAF85219.1
AK302875 mRNA Translation: BAG64055.1
AK316241 mRNA Translation: BAH14612.1
AC079922 Genomic DNA Translation: AAY14923.1
AC112235 Genomic DNA Translation: AAX93053.1 Sequence problems.
BC036217 mRNA Translation: AAH36217.1
CCDSiCCDS2100.1 [Q8IYA6-1]
RefSeqiNP_001291290.1, NM_001304361.1 [Q8IYA6-3]
NP_689728.3, NM_152515.4 [Q8IYA6-1]
XP_011508968.1, XM_011510666.2 [Q8IYA6-3]
UniGeneiHs.434250

Genome annotation databases

EnsembliENST00000302450; ENSP00000305204; ENSG00000169607 [Q8IYA6-1]
GeneIDi150468
KEGGihsa:150468
UCSCiuc002tie.3 human [Q8IYA6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097948 mRNA Translation: BAC05202.1
AK292530 mRNA Translation: BAF85219.1
AK302875 mRNA Translation: BAG64055.1
AK316241 mRNA Translation: BAH14612.1
AC079922 Genomic DNA Translation: AAY14923.1
AC112235 Genomic DNA Translation: AAX93053.1 Sequence problems.
BC036217 mRNA Translation: AAH36217.1
CCDSiCCDS2100.1 [Q8IYA6-1]
RefSeqiNP_001291290.1, NM_001304361.1 [Q8IYA6-3]
NP_689728.3, NM_152515.4 [Q8IYA6-1]
XP_011508968.1, XM_011510666.2 [Q8IYA6-3]
UniGeneiHs.434250

3D structure databases

ProteinModelPortaliQ8IYA6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127298, 4 interactors
IntActiQ8IYA6, 3 interactors
STRINGi9606.ENSP00000305204

PTM databases

iPTMnetiQ8IYA6
PhosphoSitePlusiQ8IYA6

Polymorphism and mutation databases

BioMutaiCKAP2L
DMDMi311033474

Proteomic databases

EPDiQ8IYA6
MaxQBiQ8IYA6
PaxDbiQ8IYA6
PeptideAtlasiQ8IYA6
PRIDEiQ8IYA6
ProteomicsDBi71132
71133 [Q8IYA6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302450; ENSP00000305204; ENSG00000169607 [Q8IYA6-1]
GeneIDi150468
KEGGihsa:150468
UCSCiuc002tie.3 human [Q8IYA6-1]

Organism-specific databases

CTDi150468
DisGeNETi150468
EuPathDBiHostDB:ENSG00000169607.12
GeneCardsiCKAP2L
H-InvDBiHIX0200299
HGNCiHGNC:26877 CKAP2L
HPAiHPA039407
HPA040057
HPA070737
MalaCardsiCKAP2L
MIMi272440 phenotype
616174 gene
neXtProtiNX_Q8IYA6
OpenTargetsiENSG00000169607
Orphaneti3255 Filippi syndrome
PharmGKBiPA144596448
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGXX Eukaryota
ENOG4111T8P LUCA
GeneTreeiENSGT00530000063691
HOGENOMiHOG000111753
HOVERGENiHBG107704
InParanoidiQ8IYA6
KOiK16769
OMAiQDMKLIT
OrthoDBiEOG091G05HU
PhylomeDBiQ8IYA6
TreeFamiTF333003

Miscellaneous databases

ChiTaRSiCKAP2L human
GenomeRNAii150468
PROiPR:Q8IYA6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169607 Expressed in 80 organ(s), highest expression level in testis
CleanExiHS_CKAP2L
ExpressionAtlasiQ8IYA6 baseline and differential
GenevisibleiQ8IYA6 HS

Family and domain databases

InterProiView protein in InterPro
IPR029197 CKAP2_C
IPR026165 CKAP2_fam
PANTHERiPTHR16076 PTHR16076, 1 hit
PfamiView protein in Pfam
PF15297 CKAP2_C, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCKP2L_HUMAN
AccessioniPrimary (citable) accession number: Q8IYA6
Secondary accession number(s): A8K915
, B4DZE3, B7ZAC6, F5H0M5, Q53QF8, Q53RS8, Q8N1J8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 107 of the entry and version 4 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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