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Protein

Caytaxin

Gene

ATCAY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • mitochondrion distribution Source: UniProtKB
  • negative regulation of glutamate metabolic process Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • regulation of protein localization Source: UniProtKB

Keywordsi

Biological processNeurogenesis, 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

EuPathDBiHostDB:ENSG00000167654.17
HGNCiHGNC:779 ATCAY
MIMi608179 gene
neXtProtiNX_Q86WG3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 CASP31 Publication2

Keywords - PTMi

Ubl conjugation

Proteomic databases

EPDiQ86WG3
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, 5 interactors
ELMiQ86WG3
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

Phylogenomic databases

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

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR022181 Bcl2-/adenovirus-E1B
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
PfamiView protein in Pfam
PF12496 BNIP2, 1 hit
PF13716 CRAL_TRIO_2, 1 hit
SMARTiView protein in SMART
SM00516 SEC14, 1 hit
SUPFAMiSSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiATCAY_HUMAN
AccessioniPrimary (citable) accession number: Q86WG3
Secondary accession number(s): Q8NAQ2
, Q8TAQ3, Q96HC6, Q96JF5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 31, 2003
Last modified: May 23, 2018
This is version 130 of the entry and version 2 of the sequence. See 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

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