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Protein

Calmodulin-regulated spectrin-associated protein 2

Gene

CAMSAP2

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

Functioni

Microtubule minus-end binding protein that may regulate the organization of non-centrosomal microtubules. May regulate the nucleation and the polymerization of microtubules. Indirectly, through the microtubule cytoskeleton, may regulate the organization of cellular organelles including the Golgi and the early endosomes.1 Publication

GO - Molecular functioni

  • microtubule minus-end binding Source: UniProtKB

GO - Biological processi

  • microtubule cytoskeleton organization Source: UniProtKB
  • neuron projection development Source: InterPro
  • regulation of organelle organization Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Calmodulin-regulated spectrin-associated protein 2
Alternative name(s):
Calmodulin-regulated spectrin-associated protein 1-like protein 1
Gene namesi
Name:CAMSAP2
Synonyms:CAMSAP1L1, KIAA1078
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29188. CAMSAP2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Defects in CAMSAP2 may be a cause of susceptibility to epilepsy in the Chinese population.

Organism-specific databases

DisGeNETi23271.
OpenTargetsiENSG00000118200.
PharmGKBiPA142672206.

Polymorphism and mutation databases

BioMutaiCAMSAP2.
DMDMi308153626.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003168321 – 1489Calmodulin-regulated spectrin-associated protein 2Add BLAST1489

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei416PhosphoserineCombined sources1
Modified residuei418PhosphoserineBy similarity1
Modified residuei426PhosphothreonineBy similarity1
Modified residuei464PhosphoserineCombined sources1
Modified residuei598PhosphoserineCombined sources1
Modified residuei599PhosphoserineCombined sources1
Modified residuei611PhosphoserineBy similarity1
Modified residuei673PhosphoserineCombined sources1
Modified residuei678PhosphothreonineBy similarity1
Modified residuei680PhosphoserineBy similarity1
Modified residuei862PhosphoserineCombined sources1
Modified residuei931PhosphoserineCombined sources1
Modified residuei936PhosphoserineCombined sources1
Modified residuei997PhosphothreonineCombined sources1
Modified residuei1002PhosphothreonineCombined sources1
Modified residuei1004PhosphothreonineCombined sources1
Modified residuei1008PhosphoserineCombined sources1
Modified residuei1019PhosphoserineCombined sources1
Modified residuei1148PhosphoserineCombined sources1
Modified residuei1313PhosphoserineCombined sources1
Modified residuei1319PhosphoserineCombined sources1
Modified residuei1321PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ08AD1.
MaxQBiQ08AD1.
PaxDbiQ08AD1.
PeptideAtlasiQ08AD1.
PRIDEiQ08AD1.

PTM databases

iPTMnetiQ08AD1.
PhosphoSitePlusiQ08AD1.

Expressioni

Gene expression databases

BgeeiENSG00000118200.
CleanExiHS_CAMSAP1L1.
ExpressionAtlasiQ08AD1. baseline and differential.
GenevisibleiQ08AD1. HS.

Organism-specific databases

HPAiHPA026304.
HPA026511.
HPA027302.

Interactioni

Subunit structurei

Interacts with CAMSAP3.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
EEF1DP296922EBI-1051869,EBI-358607

GO - Molecular functioni

  • microtubule minus-end binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116872. 24 interactors.
IntActiQ08AD1. 23 interactors.
MINTiMINT-8330034.
STRINGi9606.ENSP00000351684.

Structurei

3D structure databases

ProteinModelPortaliQ08AD1.
SMRiQ08AD1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini211 – 332CHAdd BLAST122
Domaini1349 – 1483CKKPROSITE-ProRule annotationAdd BLAST135

Domaini

The CKK domain binds microtubules.PROSITE-ProRule annotation

Sequence similaritiesi

Belongs to the CAMSAP1 family.PROSITE-ProRule annotation
Contains 1 CKK domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IU7J. Eukaryota.
ENOG411033G. LUCA.
GeneTreeiENSGT00390000010026.
InParanoidiQ08AD1.
KOiK17493.
OMAiNENIHYK.
OrthoDBiEOG091G00FI.
PhylomeDBiQ08AD1.
TreeFamiTF315529.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR032940. CAMSAP.
IPR031372. CAMSAP_CC1.
IPR022613. CAMSAP_CH.
IPR001715. CH-domain.
IPR014797. CKK_domain.
IPR011033. PRC_barrel-like.
[Graphical view]
PANTHERiPTHR21595. PTHR21595. 1 hit.
PfamiPF17095. CAMSAP_CC1. 1 hit.
PF11971. CAMSAP_CH. 1 hit.
PF08683. CAMSAP_CKK. 1 hit.
[Graphical view]
SMARTiSM01051. CAMSAP_CKK. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF50346. SSF50346. 1 hit.
PROSITEiPS51508. CKK. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q08AD1-1) [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
MGDAADPREM RKTFIVPAIK PFDHYDFSRA KIACNLAWLV AKAFGTENVP
60 70 80 90 100
EELQEPFYTD QYDQEHIKPP VVNLLLSAEL YCRAGSLILK SDAAKPLLGH
110 120 130 140 150
DAVIQALAQK GLYVTDQEKL VTERDLHKKP IQMSAHLAMI DTLMMAYTVE
160 170 180 190 200
MVSIEKVIAC AQQYSAFFQA TDLPYDIEDA VMYWINKVNE HLKDIMEQEQ
210 220 230 240 250
KLKEHHTVEA PGGQKSPSKW FWKLVPARYR KEQTLLKQLP CIPLVENLLK
260 270 280 290 300
DGTDGCALAA LIHFYCPDVV RLEDICLKET MSLADSLYNL QLIQEFCQEY
310 320 330 340 350
LNQCCHFTLE DMLYAASSIK SNYLVFMAEL FWWFEVVKPS FVQPRVVRPQ
360 370 380 390 400
GAEPVKDMPS IPVLNAAKRN VLDSSSDFPS SGEGATFTQS HHHLPSRYSR
410 420 430 440 450
PQAHSSASGG IRRSSSMSYV DGFIGTWPKE KRSSVHGVSF DISFDKEDSV
460 470 480 490 500
QRSTPNRGIT RSISNEGLTL NNSHVSKHIR KNLSFKPING EEEAESIEEE
510 520 530 540 550
LNIDSHSDLK SCVPLNTNEL NSNENIHYKL PNGALQNRIL LDEFGNQIET
560 570 580 590 600
PSIEEALQII HDTEKSPHTP QPDQIANGFF LHSQEMSILN SNIKLNQSSP
610 620 630 640 650
DNVTDTKGAL SPITDNTEVD TGIHVPSEDI PETMDEDSSL RDYTVSLDSD
660 670 680 690 700
MDDASKFLQD YDIRTGNTRE ALSPCPSTVS TKSQPGSSAS SSSGVKMTSF
710 720 730 740 750
AEQKFRKLNH TDGKSSGSSS QKTTPEGSEL NIPHVVAWAQ IPEETGLPQG
760 770 780 790 800
RDTTQLLASE MVHLRMKLEE KRRAIEAQKK KMEAAFTKQR QKMGRTAFLT
810 820 830 840 850
VVKKKGDGIS PLREEAAGAE DEKVYTDRAK EKESQKTDGQ RSKSLADIKE
860 870 880 890 900
SMENPQAKWL KSPTTPIDPE KQWNLASPSE ETLNEGEILE YTKSIEKLNS
910 920 930 940 950
SLHFLQQEMQ RLSLQQEMLM QMREQQSWVI SPPQPSPQKQ IRDFKPSKQA
960 970 980 990 1000
GLSSAIAPFS SDSPRPTHPS PQSSNRKSAS FSVKSQRTPR PNELKITPLN
1010 1020 1030 1040 1050
RTLTPPRSVD SLPRLRRFSP SQVPIQTRSF VCFGDDGEPQ LKESKPKEEV
1060 1070 1080 1090 1100
KKEELESKGT LEQRGHNPEE KEIKPFESTV SEVLSLPVTE TVCLTPNEDQ
1110 1120 1130 1140 1150
LNQPTEPPPK PVFPPTAPKN VNLIEVSLSD LKPPEKADVP VEKYDGESDK
1160 1170 1180 1190 1200
EQFDDDQKVC CGFFFKDDQK AENDMAMKRA ALLEKRLRRE KETQLRKQQL
1210 1220 1230 1240 1250
EAEMEHKKEE TRRKTEEERQ KKEDERARRE FIRQEYMRRK QLKLMEDMDT
1260 1270 1280 1290 1300
VIKPRPQVVK QKKQRPKSIH RDHIESPKTP IKGPPVSSLS LASLNTGDNE
1310 1320 1330 1340 1350
SVHSGKRTPR SESVEGFLSP SRCGSRNGEK DWENASTTSS VASGTEYTGP
1360 1370 1380 1390 1400
KLYKEPSAKS NKHIIQNALA HCCLAGKVNE GQKKKILEEM EKSDANNFLI
1410 1420 1430 1440 1450
LFRDSGCQFR SLYTYCPETE EINKLTGIGP KSITKKMIEG LYKYNSDRKQ
1460 1470 1480
FSHIPAKTLS ASVDAITIHS HLWQTKRPVT PKKLLPTKA
Length:1,489
Mass (Da):168,089
Last modified:October 5, 2010 - v3
Checksum:i4E20A240E2691027
GO
Isoform 2 (identifier: Q08AD1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-226: Missing.
     380-395: Missing.

Note: No experimental confirmation available.
Show »
Length:1,462
Mass (Da):165,058
Checksum:iE036B5F830A186F1
GO
Isoform 3 (identifier: Q08AD1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-226: Missing.

Note: No experimental confirmation available.
Show »
Length:1,478
Mass (Da):166,732
Checksum:iD2979D7D328FB53D
GO

Sequence cautioni

The sequence AAH56910 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti150E → K in BAA83030 (PubMed:10470851).Curated1
Sequence conflicti1261Q → K in AAH56910 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038399361I → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_038400958P → L.Corresponds to variant rs3753952dbSNPEnsembl.1
Natural variantiVAR_057796969P → L.Corresponds to variant rs3753952dbSNPEnsembl.1
Natural variantiVAR_0384011028R → P.Corresponds to variant rs6674599dbSNPEnsembl.1
Natural variantiVAR_0577971039P → R.Corresponds to variant rs6674599dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030805216 – 226Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_030806380 – 395Missing in isoform 2. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL450104 Genomic DNA. Translation: CAI17077.1.
CH471067 Genomic DNA. Translation: EAW91320.1.
BC011385 mRNA. Translation: AAH11385.1.
BC056910 mRNA. Translation: AAH56910.1. Different initiation.
BC125229 mRNA. Translation: AAI25230.1.
BC125230 mRNA. Translation: AAI25231.1.
AB029001 mRNA. Translation: BAA83030.2.
AL110158 mRNA. Translation: CAB53664.2.
CCDSiCCDS1404.1. [Q08AD1-3]
CCDS72998.1. [Q08AD1-1]
CCDS72999.1. [Q08AD1-2]
PIRiT14744.
RefSeqiNP_001284636.1. NM_001297707.1. [Q08AD1-1]
NP_001284637.1. NM_001297708.1. [Q08AD1-2]
NP_982284.1. NM_203459.2. [Q08AD1-3]
UniGeneiHs.23585.

Genome annotation databases

EnsembliENST00000236925; ENSP00000236925; ENSG00000118200. [Q08AD1-1]
ENST00000358823; ENSP00000351684; ENSG00000118200. [Q08AD1-3]
ENST00000413307; ENSP00000416800; ENSG00000118200. [Q08AD1-2]
GeneIDi23271.
KEGGihsa:23271.
UCSCiuc001gvk.4. human. [Q08AD1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL450104 Genomic DNA. Translation: CAI17077.1.
CH471067 Genomic DNA. Translation: EAW91320.1.
BC011385 mRNA. Translation: AAH11385.1.
BC056910 mRNA. Translation: AAH56910.1. Different initiation.
BC125229 mRNA. Translation: AAI25230.1.
BC125230 mRNA. Translation: AAI25231.1.
AB029001 mRNA. Translation: BAA83030.2.
AL110158 mRNA. Translation: CAB53664.2.
CCDSiCCDS1404.1. [Q08AD1-3]
CCDS72998.1. [Q08AD1-1]
CCDS72999.1. [Q08AD1-2]
PIRiT14744.
RefSeqiNP_001284636.1. NM_001297707.1. [Q08AD1-1]
NP_001284637.1. NM_001297708.1. [Q08AD1-2]
NP_982284.1. NM_203459.2. [Q08AD1-3]
UniGeneiHs.23585.

3D structure databases

ProteinModelPortaliQ08AD1.
SMRiQ08AD1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116872. 24 interactors.
IntActiQ08AD1. 23 interactors.
MINTiMINT-8330034.
STRINGi9606.ENSP00000351684.

PTM databases

iPTMnetiQ08AD1.
PhosphoSitePlusiQ08AD1.

Polymorphism and mutation databases

BioMutaiCAMSAP2.
DMDMi308153626.

Proteomic databases

EPDiQ08AD1.
MaxQBiQ08AD1.
PaxDbiQ08AD1.
PeptideAtlasiQ08AD1.
PRIDEiQ08AD1.

Protocols and materials databases

DNASUi23271.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236925; ENSP00000236925; ENSG00000118200. [Q08AD1-1]
ENST00000358823; ENSP00000351684; ENSG00000118200. [Q08AD1-3]
ENST00000413307; ENSP00000416800; ENSG00000118200. [Q08AD1-2]
GeneIDi23271.
KEGGihsa:23271.
UCSCiuc001gvk.4. human. [Q08AD1-1]

Organism-specific databases

CTDi23271.
DisGeNETi23271.
GeneCardsiCAMSAP2.
H-InvDBHIX0001450.
HGNCiHGNC:29188. CAMSAP2.
HPAiHPA026304.
HPA026511.
HPA027302.
MIMi613775. gene.
neXtProtiNX_Q08AD1.
OpenTargetsiENSG00000118200.
PharmGKBiPA142672206.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU7J. Eukaryota.
ENOG411033G. LUCA.
GeneTreeiENSGT00390000010026.
InParanoidiQ08AD1.
KOiK17493.
OMAiNENIHYK.
OrthoDBiEOG091G00FI.
PhylomeDBiQ08AD1.
TreeFamiTF315529.

Miscellaneous databases

ChiTaRSiCAMSAP2. human.
GenomeRNAii23271.
PROiQ08AD1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118200.
CleanExiHS_CAMSAP1L1.
ExpressionAtlasiQ08AD1. baseline and differential.
GenevisibleiQ08AD1. HS.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR032940. CAMSAP.
IPR031372. CAMSAP_CC1.
IPR022613. CAMSAP_CH.
IPR001715. CH-domain.
IPR014797. CKK_domain.
IPR011033. PRC_barrel-like.
[Graphical view]
PANTHERiPTHR21595. PTHR21595. 1 hit.
PfamiPF17095. CAMSAP_CC1. 1 hit.
PF11971. CAMSAP_CH. 1 hit.
PF08683. CAMSAP_CKK. 1 hit.
[Graphical view]
SMARTiSM01051. CAMSAP_CKK. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF50346. SSF50346. 1 hit.
PROSITEiPS51508. CKK. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAMP2_HUMAN
AccessioniPrimary (citable) accession number: Q08AD1
Secondary accession number(s): B1APG6
, Q08AD2, Q6PGN8, Q96FB3, Q9UG20, Q9UPS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 95 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

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. 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.