Seroatlas · Human Serome Atlas

CAMTA1

Calmodulin-binding transcription activator 1

Also known as: CMTA1_HUMAN, KIAA0833

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y6Y1
Gene: CAMTA1
Ensembl: ENSG00000171735
Chromosome: 1
Canonical length: 1673 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

1673 residues, UniProt reviewed canonical sequence.

>Q9Y6Y1|CAMTA1
     1  MWRAEGKWLP KTSRKSVSQS VFCGTSTYCV LNTVPPIEDD HGNSNSSHVK IFLPKKLLEC
    61  LPKCSSLPKE RHRWNTNEEI AAYLITFEKH EEWLTTSPKT RPQNGSMILY NRKKVKYRKD
   121  GYCWKKRKDG KTTREDHMKL KVQGVECLYG CYVHSSIIPT FHRRCYWLLQ NPDIVLVHYL
   181  NVPAIEDCGK PCGPILCSIN TDKKEWAKWT KEELIGQLKP MFHGIKWTCS NGNSSSGFSV
   241  EQLVQQILDS HQTKPQPRTH NCLCTGSLGA GGSVHHKCNS AKHRIISPKV EPRTGGYGSH
   301  SEVQHNDVSE GKHEHSHSKG SSREKRNGKV AKPVLLHQSS TEVSSTNQVE VPDTTQSSPV
   361  SISSGLNSDP DMVDSPVVTG VSGMAVASVM GSLSQSATVF MSEVTNEAVY TMSPTAGPNH
   421  HLLSPDASQG LVLAVSSDGH KFAFPTTGSS ESLSMLPTNV SEELVLSTTL DGGRKIPETT
   481  MNFDPDCFLN NPKQGQTYGG GGLKAEMVSS NIRHSPPGER SFSFTTVLTK EIKTEDTSFE
   541  QQMAKEAYSS SAAAVAASSL TLTAGSSLLP SGGGLSPSTT LEQMDFSAID SNKDYTSSFS
   601  QTGHSPHIHQ TPSPSFFLQD ASKPLPVEQN THSSLSDSGG TFVMPTVKTE ASSQTSSCSG
   661  HVETRIESTS SLHLMQFQAN FQAMTAEGEV TMETSQAAEG SEVLLKSGEL QACSSEHYLQ
   721  PETNGVIRSA GGVPILPGNV VQGLYPVAQP SLGNASNMEL SLDHFDISFS NQFSDLINDF
   781  ISVEGGSSTI YGHQLVSGDS TALSQSEDGA RAPFTQAEMC LPCCSPQQGS LQLSSSEGGA
   841  STMAYMHVAE VVSAASAQGT LGMLQQSGRV FMVTDYSPEW SYPEGGVKVL ITGPWQEASN
   901  NYSCLFDQIS VPASLIQPGV LRCYCPAHDT GLVTLQVAFN NQIISNSVVF EYKARALPTL
   961  PSSQHDWLSL DDNQFRMSIL ERLEQMERRM AEMTGSQQHK QASGGGSSGG GSGSGNGGSQ
  1021  AQCASGTGAL GSCFESRVVV VCEKMMSRAC WAKSKHLIHS KTFRGMTLLH LAAAQGYATL
  1081  IQTLIKWRTK HADSIDLELE VDPLNVDHFS CTPLMWACAL GHLEAAVVLY KWDRRAISIP
  1141  DSLGRLPLGI ARSRGHVKLA ECLEHLQRDE QAQLGQNPRI HCPASEEPST ESWMAQWHSE
  1201  AISSPEIPKG VTVIASTNPE LRRPRSEPSN YYSSESHKDY PAPKKHKLNP EYFQTRQEKL
  1261  LPTALSLEEP NIRKQSPSSK QSVPETLSPS EGVRDFSREL SPPTPETAAF QASGSQPVGK
  1321  WNSKDLYIGV STVQVTGNPK GTSVGKEAAP SQVRPREPMS VLMMANREVV NTELGSYRDS
  1381  AENEECGQPM DDIQVNMMTL AEHIIEATPD RIKQENFVPM ESSGLERTDP ATISSTMSWL
  1441  ASYLADADCL PSAAQIRSAY NEPLTPSSNT SLSPVGSPVS EIAFEKPNLP SAADWSEFLS
  1501  ASTSEKVENE FAQLTLSDHE QRELYEAARL VQTAFRKYKG RPLREQQEVA AAVIQRCYRK
  1561  YKQYALYKKM TQAAILIQSK FRSYYEQKKF QQSRRAAVLI QKYYRSYKKC GKRRQARRTA
  1621  VIVQQKLRSS LLTKKQDQAA RKIMRFLRRC RHSPLVDHRL YKRSERIEKG QGT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAMTA1 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: 106 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 106 nTPM
blood vessel: 100 nTPM
tongue: 97 nTPM
skeletal muscle: 95 nTPM
epididymis: 78 nTPM
colon: 67 nTPM

Single-cell type

megakaryocytes: 1,076 nCPM
retinal ganglion cells: 1,035 nCPM
retinal horizontal cells: 745 nCPM
retinal amacrine cells: 689 nCPM
bergmann glia: 590 nCPM
astrocytes: 588 nCPM

Immune cell

basophil: 80 nTPM
plasmacytoid DC: 77 nTPM
classical monocyte: 75 nTPM
myeloid DC: 73 nTPM
eosinophil: 70 nTPM
intermediate monocyte: 49 nTPM

Brain region

cerebral cortex: 126 nTPM
pons: 110 nTPM
medulla oblongata: 105 nTPM
midbrain: 103 nTPM
hypothalamus: 103 nTPM
cerebellum: 100 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAMTA1.

Disease | AllUniProt

Conditions CAMTA1 is implicated in, by any mechanism.

Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) MIM:614756

Disease | GeneticClinVar

100 pathogenic / likely-pathogenic of 958 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Inborn genetic diseases
CAMTA1-related disorder
Neurodevelopmental disorder
Intellectual disability

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): 0.17
gnomAD pLI: 1
gnomAD missense Z: 3.26
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CAMTA1 as an antibody target. Whether an autoantibody or antibody against CAMTA1 could matter depends on whether native CAMTA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CAMTA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CAMTA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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