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Q9Y6Y1 (CMTA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calmodulin-binding transcription activator 1
Gene names
Name:CAMTA1
Synonyms:KIAA0833
ORF Names:MSTP023
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1673 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator. May act as a tumor suppressor. Ref.9 Ref.11

Subunit structure

May interact with calmodulin Potential. Ref.9

Subcellular location

Nucleus Probable. Cytoplasm Ref.9 Ref.10.

Tissue specificity

Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, and are reduced by half in oligodendroglioma and astrocytoma cases with 1p loss of heterozygosity. Detected in neuroblastic-type cultured neuroblastoma cells. Expressed in heart and kidney. Ref.9 Ref.10 Ref.11

Induction

Detected at low levels at interphase and in resting cells. Up-regulated during S phase and mitosis. Levels decrease at the end of mitosis. Ref.10

Involvement in disease

Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:614756]: A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Miscellaneous

A very small segment of 1p36 located within CAMTA1 is deleted in all oligodendroglial tumors with 1p LOH. This minimal deleted region (MDR) also overlaps the neuroblastoma 1p36 MDR. CAMTA1 shows no evidence of inactivation by somatic mutations.

Sequence similarities

Belongs to the CAMTA family.

Contains 3 ANK repeats.

Contains 1 CG-1 DNA-binding domain.

Contains 1 IPT/TIG domain.

Contains 3 IQ domains.

Sequence caution

The sequence AAL39006.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA74856.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence EAW71580.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseMental retardation
   DomainANK repeat
Repeat
   Molecular functionActivator
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y6Y1-1)

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.
Isoform 2 (identifier: Q9Y6Y1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1458-1471: Missing.
     1653-1673: SPLVDHRLYKRSERIEKGQGT → RVKELKKAKELEDIQQHPLAM
Isoform 3 (identifier: Q9Y6Y1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     79-80: EI → RS
     81-1673: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9Y6Y1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     79-101: EIAAYLITFEKHEEWLTTSPKTR → ALTTHLFMGAAKKRDPQSWSHEG
     102-1673: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16731673Calmodulin-binding transcription activator 1
PRO_0000235820

Regions

Domain873 – 95381IPT/TIG
Repeat1064 – 109330ANK 1
Repeat1109 – 112921ANK 2
Repeat1143 – 117230ANK 3
Domain1547 – 157630IQ 1
Domain1577 – 159923IQ 2
Domain1600 – 162223IQ 3
DNA binding63 – 188126CG-1
Motif112 – 1198Nuclear localization signal Potential
Compositional bias499 – 5024Poly-Gly
Compositional bias1038 – 10414Poly-Val

Natural variations

Alternative sequence79 – 10123EIAAY…SPKTR → ALTTHLFMGAAKKRDPQSWS HEG in isoform 4.
VSP_046358
Alternative sequence79 – 802EI → RS in isoform 3.
VSP_043842
Alternative sequence81 – 16731593Missing in isoform 3.
VSP_043843
Alternative sequence102 – 16731572Missing in isoform 4.
VSP_046359
Alternative sequence1458 – 147114Missing in isoform 2.
VSP_035936
Alternative sequence1653 – 167321SPLVD…KGQGT → RVKELKKAKELEDIQQHPLA M in isoform 2.
VSP_035937
Natural variant11771N → K. Ref.14
Corresponds to variant rs41278952 [ dbSNP | Ensembl ].
VAR_047824
Natural variant12181N → T. Ref.14
Corresponds to variant rs41278954 [ dbSNP | Ensembl ].
VAR_047825
Natural variant13361T → I. Ref.14
Corresponds to variant rs137974312 [ dbSNP | Ensembl ].
VAR_047826

Secondary structure

................... 1673
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 16, 2006. Version 4.
Checksum: 008AA6A906374C00

FASTA1,673183,672
        10         20         30         40         50         60 
MWRAEGKWLP KTSRKSVSQS VFCGTSTYCV LNTVPPIEDD HGNSNSSHVK IFLPKKLLEC 

        70         80         90        100        110        120 
LPKCSSLPKE RHRWNTNEEI AAYLITFEKH EEWLTTSPKT RPQNGSMILY NRKKVKYRKD 

       130        140        150        160        170        180 
GYCWKKRKDG KTTREDHMKL KVQGVECLYG CYVHSSIIPT FHRRCYWLLQ NPDIVLVHYL 

       190        200        210        220        230        240 
NVPAIEDCGK PCGPILCSIN TDKKEWAKWT KEELIGQLKP MFHGIKWTCS NGNSSSGFSV 

       250        260        270        280        290        300 
EQLVQQILDS HQTKPQPRTH NCLCTGSLGA GGSVHHKCNS AKHRIISPKV EPRTGGYGSH 

       310        320        330        340        350        360 
SEVQHNDVSE GKHEHSHSKG SSREKRNGKV AKPVLLHQSS TEVSSTNQVE VPDTTQSSPV 

       370        380        390        400        410        420 
SISSGLNSDP DMVDSPVVTG VSGMAVASVM GSLSQSATVF MSEVTNEAVY TMSPTAGPNH 

       430        440        450        460        470        480 
HLLSPDASQG LVLAVSSDGH KFAFPTTGSS ESLSMLPTNV SEELVLSTTL DGGRKIPETT 

       490        500        510        520        530        540 
MNFDPDCFLN NPKQGQTYGG GGLKAEMVSS NIRHSPPGER SFSFTTVLTK EIKTEDTSFE 

       550        560        570        580        590        600 
QQMAKEAYSS SAAAVAASSL TLTAGSSLLP SGGGLSPSTT LEQMDFSAID SNKDYTSSFS 

       610        620        630        640        650        660 
QTGHSPHIHQ TPSPSFFLQD ASKPLPVEQN THSSLSDSGG TFVMPTVKTE ASSQTSSCSG 

       670        680        690        700        710        720 
HVETRIESTS SLHLMQFQAN FQAMTAEGEV TMETSQAAEG SEVLLKSGEL QACSSEHYLQ 

       730        740        750        760        770        780 
PETNGVIRSA GGVPILPGNV VQGLYPVAQP SLGNASNMEL SLDHFDISFS NQFSDLINDF 

       790        800        810        820        830        840 
ISVEGGSSTI YGHQLVSGDS TALSQSEDGA RAPFTQAEMC LPCCSPQQGS LQLSSSEGGA 

       850        860        870        880        890        900 
STMAYMHVAE VVSAASAQGT LGMLQQSGRV FMVTDYSPEW SYPEGGVKVL ITGPWQEASN 

       910        920        930        940        950        960 
NYSCLFDQIS VPASLIQPGV LRCYCPAHDT GLVTLQVAFN NQIISNSVVF EYKARALPTL 

       970        980        990       1000       1010       1020 
PSSQHDWLSL DDNQFRMSIL ERLEQMERRM AEMTGSQQHK QASGGGSSGG GSGSGNGGSQ 

      1030       1040       1050       1060       1070       1080 
AQCASGTGAL GSCFESRVVV VCEKMMSRAC WAKSKHLIHS KTFRGMTLLH LAAAQGYATL 

      1090       1100       1110       1120       1130       1140 
IQTLIKWRTK HADSIDLELE VDPLNVDHFS CTPLMWACAL GHLEAAVVLY KWDRRAISIP 

      1150       1160       1170       1180       1190       1200 
DSLGRLPLGI ARSRGHVKLA ECLEHLQRDE QAQLGQNPRI HCPASEEPST ESWMAQWHSE 

      1210       1220       1230       1240       1250       1260 
AISSPEIPKG VTVIASTNPE LRRPRSEPSN YYSSESHKDY PAPKKHKLNP EYFQTRQEKL 

      1270       1280       1290       1300       1310       1320 
LPTALSLEEP NIRKQSPSSK QSVPETLSPS EGVRDFSREL SPPTPETAAF QASGSQPVGK 

      1330       1340       1350       1360       1370       1380 
WNSKDLYIGV STVQVTGNPK GTSVGKEAAP SQVRPREPMS VLMMANREVV NTELGSYRDS 

      1390       1400       1410       1420       1430       1440 
AENEECGQPM DDIQVNMMTL AEHIIEATPD RIKQENFVPM ESSGLERTDP ATISSTMSWL 

      1450       1460       1470       1480       1490       1500 
ASYLADADCL PSAAQIRSAY NEPLTPSSNT SLSPVGSPVS EIAFEKPNLP SAADWSEFLS 

      1510       1520       1530       1540       1550       1560 
ASTSEKVENE FAQLTLSDHE QRELYEAARL VQTAFRKYKG RPLREQQEVA AAVIQRCYRK 

      1570       1580       1590       1600       1610       1620 
YKQYALYKKM TQAAILIQSK FRSYYEQKKF QQSRRAAVLI QKYYRSYKKC GKRRQARRTA 

      1630       1640       1650       1660       1670 
VIVQQKLRSS LLTKKQDQAA RKIMRFLRRC RHSPLVDHRL YKRSERIEKG QGT 

« Hide

Isoform 2 [UniParc].

Checksum: E03DDA09EEB25873
Show »

FASTA1,659182,257
Isoform 3 [UniParc].

Checksum: 4745CB6B383AB10A
Show »

FASTA809,173
Isoform 4 [UniParc].

Checksum: DF1CD8DF69AAE9E2
Show »

FASTA10111,480

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[3]Li N., Zhang M., Wan T., Zhang W., Cao X.
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
Tissue: Skin.
[7]Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., Song L., Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Sun Y.H., Jiang Y.X., Zhao X.W., Liu S. expand/collapse author list , Liu L.S., Ding J.F., Gao R.L., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1422-1673 (ISOFORM 2).
Tissue: Heart.
[8]Li H., Li S., Yu R., Shen C., Zhou G., Ke R., Lin L., Yang S.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1437-1673 (ISOFORM 2).
[9]"A novel family of calmodulin-binding transcription activators in multicellular organisms."
Bouche N., Scharlat A., Snedden W., Bouchez D., Fromm H.
J. Biol. Chem. 277:21851-21861(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[10]"Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells."
Nakatani K., Nishioka J., Itakura T., Nakanishi Y., Horinouchi J., Abe Y., Wada H., Nobori T.
Int. J. Oncol. 24:1407-1412(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[11]"Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene."
Barbashina V., Salazar P., Holland E.C., Rosenblum M.K., Ladanyi M.
Clin. Cancer Res. 11:1119-1128(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[12]"Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability."
Thevenon J., Lopez E., Keren B., Heron D., Mignot C., Altuzarra C., Beri-Dexheimer M., Bonnet C., Magnin E., Burglen L., Minot D., Vigneron J., Morle S., Anheim M., Charles P., Brice A., Gallagher L., Amiel J. expand/collapse author list , Haffen E., Mach C., Depienne C., Doummar D., Bonnet M., Duplomb L., Carmignac V., Callier P., Marle N., Mosca-Boidron A.L., Roze V., Aral B., Razavi F., Jonveaux P., Faivre L., Thauvin-Robinet C.
J. Med. Genet. 49:400-408(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CANPMR.
[13]"Crystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)."
RIKEN structural genomics initiative (RSGI)
Submitted (DEC-2005) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 872-953.
[14]"Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma."
Henrich K.-O., Claas A., Praml C., Benner A., Mollenhauer J., Poustka A., Schwab M., Westermann F.
Eur. J. Cancer 43:607-616(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-1177; THR-1218 AND ILE-1336.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB020640 mRNA. Translation: BAA74856.3. Different initiation.
AY037153 mRNA. Translation: AAK67633.1.
AL590128 expand/collapse EMBL AC list , AL359881, AL365194, AL596210, Z97635, Z98052, Z98884 Genomic DNA. Translation: CAH72347.1.
AL359881 expand/collapse EMBL AC list , AL365194, AL590128, AL596210, Z97635, Z98884, Z98052 Genomic DNA. Translation: CAH72663.1.
AL596210 expand/collapse EMBL AC list , AL359881, AL365194, AL590128, Z97635, Z98052, Z98884 Genomic DNA. Translation: CAI17064.1.
Z97635 expand/collapse EMBL AC list , Z98884, Z98052, AL596210, AL590128, AL365194, AL359881 Genomic DNA. Translation: CAI20961.1.
Z98884 expand/collapse EMBL AC list , Z98052, Z97635, AL359881, AL365194, AL596210, AL590128 Genomic DNA. Translation: CAI21433.1.
Z98052 expand/collapse EMBL AC list , Z98884, Z97635, AL359881, AL596210, AL590128, AL365194 Genomic DNA. Translation: CAI21596.1.
AL365194 expand/collapse EMBL AC list , AL359881, AL590128, AL596210, Z97635, Z98052, Z98884 Genomic DNA. Translation: CAI21790.1.
CH471130 Genomic DNA. Translation: EAW71580.1. Sequence problems.
BC116457 mRNA. Translation: AAI16458.1.
BC151835 mRNA. Translation: AAI51836.1.
CD103791 mRNA. No translation available.
AF111804 mRNA. Translation: AAL39006.1. Different initiation.
AY349360 mRNA. Translation: AAQ56724.1.
CCDSCCDS30576.1. [Q9Y6Y1-1]
CCDS55574.1. [Q9Y6Y1-3]
CCDS55575.1. [Q9Y6Y1-4]
RefSeqNP_001182492.1. NM_001195563.1. [Q9Y6Y1-3]
NP_001229630.1. NM_001242701.1. [Q9Y6Y1-4]
NP_056030.1. NM_015215.3. [Q9Y6Y1-1]
UniGeneHs.397705.
Hs.671020.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CXKX-ray1.85A/B/C/D/E872-953[»]
ProteinModelPortalQ9Y6Y1.
SMRQ9Y6Y1. Positions 872-954, 1065-1163.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116863. 2 interactions.
IntActQ9Y6Y1. 1 interaction.
STRING9606.ENSP00000306522.

PTM databases

PhosphoSiteQ9Y6Y1.

Polymorphism databases

DMDM97046872.

Proteomic databases

PaxDbQ9Y6Y1.
PRIDEQ9Y6Y1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303635; ENSP00000306522; ENSG00000171735. [Q9Y6Y1-1]
ENST00000439411; ENSP00000402561; ENSG00000171735. [Q9Y6Y1-2]
ENST00000473578; ENSP00000451388; ENSG00000171735. [Q9Y6Y1-3]
ENST00000476864; ENSP00000452319; ENSG00000171735.
ENST00000557126; ENSP00000451510; ENSG00000171735. [Q9Y6Y1-4]
GeneID23261.
KEGGhsa:23261.
UCSCuc001aoh.3. human. [Q9Y6Y1-3]
uc001aoi.3. human. [Q9Y6Y1-1]

Organism-specific databases

CTD23261.
GeneCardsGC01P006845.
HGNCHGNC:18806. CAMTA1.
HPAHPA036343.
MIM611501. gene.
614756. phenotype.
neXtProtNX_Q9Y6Y1.
Orphanet314647. Non-progressive cerebellar ataxia with intellectual disability.
PharmGKBPA38688.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294285.
HOGENOMHOG000111813.
HOVERGENHBG080107.
InParanoidQ9Y6Y1.
OMAAYMHVAE.
OrthoDBEOG74R1PX.
PhylomeDBQ9Y6Y1.
TreeFamTF323452.

Gene expression databases

ArrayExpressQ9Y6Y1.
BgeeQ9Y6Y1.
CleanExHS_CAMTA1.
GenevestigatorQ9Y6Y1.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
2.60.40.10. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005559. CG-1_dom.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002909. IPT.
IPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF03859. CG-1. 1 hit.
PF00612. IQ. 2 hits.
PF01833. TIG. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 2 hits.
SM01076. CG-1. 1 hit.
SM00015. IQ. 3 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF52540. SSF52540. 1 hit.
SSF81296. SSF81296. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS51437. CG_1. 1 hit.
PS50096. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCAMTA1. human.
EvolutionaryTraceQ9Y6Y1.
GeneWikiCAMTA1.
GenomeRNAi23261.
NextBio44996.
PROQ9Y6Y1.
SOURCESearch...

Entry information

Entry nameCMTA1_HUMAN
AccessionPrimary (citable) accession number: Q9Y6Y1
Secondary accession number(s): A7MBM4 expand/collapse secondary AC list , G3V3Z7, Q5VUE1, Q6V701, Q8WYI3, Q96S92
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: July 9, 2014
This is version 116 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM