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Protein

Caytaxin

Gene

ATCAY

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

Functioni

Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites.1 Publication

GO - Molecular functioni

  • kinesin binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Neurogenesis, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Caytaxin
Alternative name(s):
Ataxia cayman type protein
BNIP-2-homology
Short name:
BNIP-H
Gene namesi
Name:ATCAY
Synonyms:KIAA1872
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:779. ATCAY.

Subcellular locationi

GO - Cellular componenti

  • axon Source: UniProtKB
  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB
  • dendrite Source: UniProtKB
  • mitochondrial membrane Source: UniProtKB
  • neuron projection Source: UniProtKB
  • synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Mitochondrion, Synapse

Pathology & Biotechi

Involvement in diseasei

Cerebellar ataxia, cayman type (ATCAY)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFound in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.
See also OMIM:601238
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017164301S → R in ATCAY. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi105D → E: Alters cleavage by CASP3. 1 Publication1
Mutagenesisi115 – 117ELE → AAA: Reduced interaction with KLC1. 3
Mutagenesisi118 – 120WED → AAA: Completely abolishes interaction with KLC1. 3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi85300.
MalaCardsiATCAY.
MIMi601238. phenotype.
OpenTargetsiENSG00000167654.
Orphaneti94122. Cerebellar ataxia, Cayman type.
PharmGKBiPA25080.

Polymorphism and mutation databases

BioMutaiATCAY.
DMDMi38257451.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002107671 – 371CaytaxinAdd BLAST371

Post-translational modificationi

Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2.1 Publication
May be ubiquitinated by STUB1.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei105 – 106Cleavage; by CASP3Curated2

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiQ86WG3.
PaxDbiQ86WG3.
PeptideAtlasiQ86WG3.
PRIDEiQ86WG3.

PTM databases

iPTMnetiQ86WG3.
PhosphoSitePlusiQ86WG3.

Expressioni

Gene expression databases

BgeeiENSG00000167654.
CleanExiHS_ATCAY.
ExpressionAtlasiQ86WG3. baseline and differential.
GenevisibleiQ86WG3. HS.

Organism-specific databases

HPAiHPA017755.

Interactioni

Subunit structurei

Interacts with KLC1; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections (By similarity). Interacts with GLS; the interaction is direct and may control GLS localization, negatively regulating its activity. Interacts with PIN1 (via WW domain); upon NGF stimulation. The interaction with PIN1 and GLS is competitive. May interact with MAP2K2.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
STUB1Q9UNE74EBI-1783328,EBI-357085

GO - Molecular functioni

  • kinesin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi124463. 2 interactors.
IntActiQ86WG3. 4 interactors.
STRINGi9606.ENSP00000390941.

Structurei

3D structure databases

ProteinModelPortaliQ86WG3.
SMRiQ86WG3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini171 – 328CRAL-TRIOPROSITE-ProRule annotationAdd BLAST158

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni115 – 120Required for interaction with KLC1By similarity6
Regioni190 – 371Mediates interaction with GLS1 PublicationAdd BLAST182

Domaini

The CRAL-TRIO domain is known to bind small hydrophobic molecules.By similarity

Sequence similaritiesi

Contains 1 CRAL-TRIO domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFIP. Eukaryota.
ENOG410ZS9Z. LUCA.
GeneTreeiENSGT00420000029688.
HOGENOMiHOG000230952.
HOVERGENiHBG054692.
InParanoidiQ86WG3.
KOiK18450.
OMAiMRVVTHG.
OrthoDBiEOG091G0E88.
PhylomeDBiQ86WG3.
TreeFamiTF324164.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR022181. Bcl2-/adenovirus-E1B.
IPR001251. CRAL-TRIO_dom.
[Graphical view]
PfamiPF12496. BNIP2. 1 hit.
PF13716. CRAL_TRIO_2. 1 hit.
[Graphical view]
SMARTiSM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86WG3-1) [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
MGTTEATLRM ENVDVKEEWQ DEDLPRPLPE ETGVELLGSP VEDTSSPPNT
60 70 80 90 100
LNFNGAHRKR KTLVAPEINI SLDQSEGSLL SDDFLDTPDD LDINVDDIET
110 120 130 140 150
PDETDSLEFL GNGNELEWED DTPVATAKNM PGDSADLFGD GTTEDGSAAN
160 170 180 190 200
GRLWRTVIIG EQEHRIDLHM IRPYMKVVTH GGYYGEGLNA IIVFAACFLP
210 220 230 240 250
DSSLPDYHYI MENLFLYVIS SLELLVAEDY MIVYLNGATP RRRMPGIGWL
260 270 280 290 300
KKCYQMIDRR LRKNLKSLII VHPSWFIRTV LAISRPFISV KFINKIQYVH
310 320 330 340 350
SLEDLEQLIP MEHVQIPDCV LQYEEERLKA RRESARPQPE FVLPRSEEKP
360 370
EVAPVENRSA LVSEDQETSM S
Length:371
Mass (Da):42,120
Last modified:October 31, 2003 - v2
Checksum:iC09174CE3AD77764
GO
Isoform 2 (identifier: Q86WG3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     370-371: MS → LQPLHRSS

Note: No experimental confirmation available.
Show »
Length:377
Mass (Da):42,821
Checksum:iC7D9A74AB27B03F0
GO

Sequence cautioni

The sequence BAB47501 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03859 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9R → W in AAO63019 (PubMed:16899818).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017164301S → R in ATCAY. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008748370 – 371MS → LQPLHRSS in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY220297 mRNA. Translation: AAO63019.1.
AB058775 mRNA. Translation: BAB47501.1. Different initiation.
AK092309 mRNA. Translation: BAC03859.1. Sequence problems.
BC008736 mRNA. No translation available.
BC026217 mRNA. Translation: AAH26217.1.
CCDSiCCDS45923.1. [Q86WG3-1]
RefSeqiNP_149053.1. NM_033064.4. [Q86WG3-1]
UniGeneiHs.418055.

Genome annotation databases

EnsembliENST00000450849; ENSP00000390941; ENSG00000167654. [Q86WG3-1]
ENST00000600960; ENSP00000470842; ENSG00000167654. [Q86WG3-3]
GeneIDi85300.
KEGGihsa:85300.
UCSCiuc002lyy.5. human. [Q86WG3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY220297 mRNA. Translation: AAO63019.1.
AB058775 mRNA. Translation: BAB47501.1. Different initiation.
AK092309 mRNA. Translation: BAC03859.1. Sequence problems.
BC008736 mRNA. No translation available.
BC026217 mRNA. Translation: AAH26217.1.
CCDSiCCDS45923.1. [Q86WG3-1]
RefSeqiNP_149053.1. NM_033064.4. [Q86WG3-1]
UniGeneiHs.418055.

3D structure databases

ProteinModelPortaliQ86WG3.
SMRiQ86WG3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124463. 2 interactors.
IntActiQ86WG3. 4 interactors.
STRINGi9606.ENSP00000390941.

PTM databases

iPTMnetiQ86WG3.
PhosphoSitePlusiQ86WG3.

Polymorphism and mutation databases

BioMutaiATCAY.
DMDMi38257451.

Proteomic databases

MaxQBiQ86WG3.
PaxDbiQ86WG3.
PeptideAtlasiQ86WG3.
PRIDEiQ86WG3.

Protocols and materials databases

DNASUi85300.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000450849; ENSP00000390941; ENSG00000167654. [Q86WG3-1]
ENST00000600960; ENSP00000470842; ENSG00000167654. [Q86WG3-3]
GeneIDi85300.
KEGGihsa:85300.
UCSCiuc002lyy.5. human. [Q86WG3-1]

Organism-specific databases

CTDi85300.
DisGeNETi85300.
GeneCardsiATCAY.
HGNCiHGNC:779. ATCAY.
HPAiHPA017755.
MalaCardsiATCAY.
MIMi601238. phenotype.
608179. gene.
neXtProtiNX_Q86WG3.
OpenTargetsiENSG00000167654.
Orphaneti94122. Cerebellar ataxia, Cayman type.
PharmGKBiPA25080.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFIP. Eukaryota.
ENOG410ZS9Z. LUCA.
GeneTreeiENSGT00420000029688.
HOGENOMiHOG000230952.
HOVERGENiHBG054692.
InParanoidiQ86WG3.
KOiK18450.
OMAiMRVVTHG.
OrthoDBiEOG091G0E88.
PhylomeDBiQ86WG3.
TreeFamiTF324164.

Miscellaneous databases

ChiTaRSiATCAY. human.
GenomeRNAii85300.
PROiQ86WG3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167654.
CleanExiHS_ATCAY.
ExpressionAtlasiQ86WG3. baseline and differential.
GenevisibleiQ86WG3. HS.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR022181. Bcl2-/adenovirus-E1B.
IPR001251. CRAL-TRIO_dom.
[Graphical view]
PfamiPF12496. BNIP2. 1 hit.
PF13716. CRAL_TRIO_2. 1 hit.
[Graphical view]
SMARTiSM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATCAY_HUMAN
AccessioniPrimary (citable) accession number: Q86WG3
Secondary accession number(s): Q8NAQ2
, Q8TAQ3, Q96HC6, Q96JF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 31, 2003
Last modified: November 30, 2016
This is version 120 of the entry and version 2 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 19
    Human chromosome 19: 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.