CAMSAP1

Protein identityUniProt · HPA

UniProt accession

Q5T5Y3

Gene

CAMSAP1

Ensembl

ENSG00000130559

Chromosome

9

Canonical length

1602 aa

Protein class

Predicted intracellular proteins

Subcellular location

Mitotic spindle,Cytosol

OverviewNCBI Gene

Enables microtubule minus-end binding activity and spectrin binding activity. Involved in several processes, including neuron projection development; regulation of cell morphogenesis; and regulation of microtubule polymerization. Located in microtubule minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1602 residues, UniProt reviewed canonical sequence.

>Q5T5Y3|CAMSAP1
     1  MVDASGRAAA EGWRKMEAPP DGAADLVPLD RYDAARAKIA ANLQWICAKA YGRDNIPEDL
    61  RDPFYVDQYE QEHIKPPVIK LLLSSELYCR VCSLILKGDQ VAALQGHQSV IQALSRKGIY
   121  VMESDDTPVT ESDLSRAPIK MSAHMAMVDA LMMAYTVEMI SIEKVVASVK RFSTFSASKE
   181  LPYDLEDAMV FWINKVNLKM REITEKEVKL KQQLLESPAH QKVRYRREHL SARQSPYFPL
   241  LEDLMRDGSD GAALLAVIHY YCPEQMKLDD ICLKEVTSMA DSLYNIRLLR EFSNEYLNKC
   301  FYLTLEDMLY APLVLKPNVM VFIAELFWWF ENVKPDFVQP RDVQELKDAK TVLHQKSSRP
   361  PVPISNATKR SFLGSPAAGT LAELQPPVQL PAEGCHRHYL HPEEPEYLGK GTAAFSPSHP
   421  LLPLRQKQQK SIQGEDIPDQ RHRSNSLTRV DGQPRGAAIA WPEKKTRPAS QPTPFALHHA
   481  ASCEVDPSSG DSISLARSIS KDSLASNIVN LTPQNQPHPT ATKSHGKSLL SNVSIEDEEE
   541  ELVAIVRADV VPQQADPEFP RASPRALGLT ANARSPQGQL DTSESKPDSF FLEPLMPAVL
   601  KPAKEKQVIT KEDERGEGRP RSIVSRRPSE GPQPLVRRKM TGSRDLNRTF TPIPCSEFPM
   661  GIDPTETGPL SVETAGEVCG GPLALGGFDP FPQGPSTDGF FLHVGRADED TEGRLYVSCS
   721  KSPNSHDSEP WTLLRQDSDS DVVDIEEAEH DFMGEAHPVV FSRYIGEEES AKLQEDMKVK
   781  EHEDKDDASG RSSPCLSTAS QMSSVSMASG SVKMTSFAER KLQRLNSCET KSSTSSSQKT
   841  TPDASESCPA PLTTWRQKRE QSPSQHGKDP ASLLASELVQ LHMQLEEKRR AIEAQKKKME
   901  ALSARQRLKL GKAAFLHVVK KGKAEAAPPL RPEHFAKEYS QHNGEDCGDA VSKTEDFLVK
   961  EEQREELLHE PQDVDKESLA FAQQHKAKDP VALHELERNK VISAALLEDT VGEVVDVNEC
  1021  DLSIEKLNET ISTLQQAILK ISQQQEQLLM KSPTVPVPGS KNNSQDHKVK APVHFVEPLS
  1081  PTGVAGHRKA PRLGQGRNSR SGRPAELKVP KDRPQGSSRS KTPTPSVETL PHLRPFPASS
  1141  HPRTPTDPGL DSALEPSGDP HGKCLFDSYR LHDESNQRTL TLSSSKDANI LSEQMSLKEV
  1201  LDASVKEVGS SSSDVSGKES VPVEEPLRSR ASLIEVDLSD LKAPDEDGEL VSLDGSADLV
  1261  SEGDQKPGVG FFFKDEQKAE DELAKKRAAF LLKQQRKAEE ARVRKQQLEA EVELKRDEAR
  1321  RKAEEDRVRK EEEKARRELI KQEYLRRKQQ QILEEQGLGK PKSKPKKPRP KSVHREESCS
  1381  DSGTKCSSTP DNLSRTQSGS SLSLASAATT EPESVHSGGT PSQRVESMEA LPILSRNPSR
  1441  STDRDWETAS AASSLASVAE YTGPKLFKEP SSKSNKPIIH NAISHCCLAG KVNEPHKNSI
  1501  LEELEKCDAN HYIILFRDAG CQFRALYCYY PDTEEIYKLT GTGPKNITKK MIDKLYKYSS
  1561  DRKQFNLIPA KTMSVSVDAL TIHNHLWQPK RPAVPKKAQT RK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAMSAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

98 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAMSAP1.

Disease | AllUniProt

Conditions CAMSAP1 is implicated in, by any mechanism.

• Cortical dysplasia, complex, with other brain malformations 12 (CDCBM12) MIM:620316

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 294 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• CAMSAP1-related neuronal migration disorder
• Cortical dysplasia, complex, with other brain malformations 12

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.24

gnomAD pLI

1

gnomAD missense Z

2.15

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cytoskeleton organization
• microtubule cytoskeleton organization
• neuron projection development
• regulation of cell morphogenesis
• regulation of microtubule polymerization

Molecular functions

• calmodulin binding
• microtubule binding
• microtubule minus-end binding
• spectrin binding

Cellular components

• microtubule

Protein domainsUniProt · Pfam · InterPro

• Calponin homology domain
• PRC-barrel-like superfamily
• CAMSAP, CKK domain
• CASAMP, second calponin-homology domain
• CAMSAP, spectrin and Ca2+/calmodulin-binding region
• Calmodulin-regulated spectrin-associated protein
• CH domain superfamily
• CKK domain superfamily
• CASAMP, N-terminal domain
• Microtubule-binding calmodulin-regulated spectrin-associated
• CAMSAP CH domain
• Spectrin-binding region of Ca2+-Calmodulin
• CAMSAP2-like, calponin-homology domain

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Cytoskeleton
• Intellectual disability
• Lissencephaly
• Microtubule
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of CAMSAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SPTBN1
• YWHAZ