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Protein

KICSTOR complex protein kaptin

Gene

KPTN

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

Functioni

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.1 Publication

GO - Molecular functioni

  • actin filament binding Source: UniProtKB

GO - Biological processi

  • actin filament organization Source: InterPro
  • cellular response to amino acid starvation Source: UniProtKB
  • cellular response to glucose starvation Source: UniProtKB
  • negative regulation of TORC1 signaling Source: UniProtKB
  • protein localization to lysosome Source: UniProtKB

Keywordsi

Molecular functionActin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
KICSTOR complex protein kaptin1 Publication
Alternative name(s):
Actin-associated protein 2E41 Publication
Gene namesi
Name:KPTNImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000118162.13.
HGNCiHGNC:6404. KPTN.

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 projection, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 41 (MRT41)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
See also OMIM:615637
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070974241M → MWSVLQ in MRT41; loss of localization to F-actin-rich regions; cytoplasmic accumulation at irregular perinuclear sites. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi11133.
MalaCardsiKPTN.
MIMi615637. phenotype.
OpenTargetsiENSG00000118162.
Orphaneti397612. Macrocephaly-developmental delay syndrome.
PharmGKBiPA30194.

Polymorphism and mutation databases

BioMutaiKPTN.
DMDMi108936022.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002392341 – 436KICSTOR complex protein kaptinAdd BLAST436

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y664.
PaxDbiQ9Y664.
PeptideAtlasiQ9Y664.
PRIDEiQ9Y664.

PTM databases

iPTMnetiQ9Y664.
PhosphoSitePlusiQ9Y664.

Expressioni

Gene expression databases

BgeeiENSG00000118162.
CleanExiHS_KPTN.
ExpressionAtlasiQ9Y664. baseline and differential.
GenevisibleiQ9Y664. HS.

Organism-specific databases

HPAiHPA041710.
HPA041796.

Interactioni

Subunit structurei

Part of the KICSTOR complex composed of KPTN, ITFG2, C12orf66 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and mediates the direct interaction with the GATOR1 complex (PubMed:28199306). May associate with F-actin filaments (PubMed:10099934).2 Publications

GO - Molecular functioni

  • actin filament binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116306. 40 interactors.
CORUMiQ9Y664.
IntActiQ9Y664. 1 interactor.
STRINGi9606.ENSP00000337850.

Structurei

3D structure databases

ProteinModelPortaliQ9Y664.
SMRiQ9Y664.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IJRR. Eukaryota.
ENOG41100KB. LUCA.
GeneTreeiENSGT00390000002548.
HOGENOMiHOG000008052.
HOVERGENiHBG061148.
InParanoidiQ9Y664.
OMAiFTPFQLY.
OrthoDBiEOG091G0BBT.
PhylomeDBiQ9Y664.
TreeFamiTF328973.

Family and domain databases

InterProiView protein in InterPro
IPR029982. Kptn.
PANTHERiPTHR15435. PTHR15435. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y664-1) [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
MMGEAAVAAG PCPLREDSFT RFSSQSNVYG LAGGAGGRGE LLAATLKGKV
60 70 80 90 100
LGFRYQDLRQ KIRPVAKELQ FNYIPVDAEI VSIDTFNKSP PKRGLVVGIT
110 120 130 140 150
FIKDSGDKGS PFLNIYCDYE PGSEYNLDSI AQSCLNLELQ FTPFQLCHAE
160 170 180 190 200
VQVGDQLETV FLLSGNDPAI HLYKENEGLH QFEEQPVENL FPELTNLTSS
210 220 230 240 250
VLWLDVHNFP GTSRRLSALG CQSGYVRVAH VDQRSREVLQ MWSVLQDGPI
260 270 280 290 300
SRVIVFSLSA AKETKDRPLQ DEYSVLVASM LEPAVVYRDL LNRGLEDQLL
310 320 330 340 350
LPGSDQFDSV LCSLVTDVDL DGRPEVLVAT YGQELLCYKY RGPESGLPEA
360 370 380 390 400
QHGFHLLWQR SFSSPLLAMA HVDLTGDGLQ ELAVVSLKGV HILQHSLIQA
410 420 430
SELVLTRLRH QVEQRRRRLQ GLEDGAGAGP AENAAS
Length:436
Mass (Da):48,080
Last modified:May 30, 2006 - v2
Checksum:i128C0D87C0850E8E
GO
Isoform 2 (identifier: Q9Y664-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-240: Missing.

Note: No experimental confirmation available.
Show »
Length:196
Mass (Da):21,583
Checksum:i91ECF26D92428E17
GO

Sequence cautioni

Q9Y664: The sequence AAD39358 differs from that shown. Reason: Frameshift at positions 8, 14, 410 and 419.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26S → N in AAD39358 (PubMed:1372044).Curated1
Sequence conflicti26S → N in AAF98790 (PubMed:1372044).Curated1
Sequence conflicti121P → T in AAD39358 (PubMed:1372044).Curated1
Sequence conflicti121P → T in AAF98790 (PubMed:1372044).Curated1
Sequence conflicti124E → V in AAD39358 (PubMed:1372044).Curated1
Sequence conflicti124E → V in AAF98790 (PubMed:1372044).Curated1
Sequence conflicti128D → V in AAD39358 (PubMed:1372044).Curated1
Sequence conflicti128D → V in AAF98790 (PubMed:1372044).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070974241M → MWSVLQ in MRT41; loss of localization to F-actin-rich regions; cytoplasmic accumulation at irregular perinuclear sites. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0539901 – 240Missing in isoform 2. 1 PublicationAdd BLAST240

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF105369 mRNA. Translation: AAD39358.1. Frameshift.
AF243529 Genomic DNA. Translation: AAF98790.1. Frameshift.
AK023996 mRNA. Translation: BAG51248.1.
AK298672 mRNA. Translation: BAG60838.1.
AC073548 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57487.1.
BC009249 mRNA. Translation: AAH09249.1.
CCDSiCCDS42583.1. [Q9Y664-1]
RefSeqiNP_001278225.1. NM_001291296.1.
NP_008990.2. NM_007059.3. [Q9Y664-1]
UniGeneiHs.25441.

Genome annotation databases

EnsembliENST00000338134; ENSP00000337850; ENSG00000118162. [Q9Y664-1]
GeneIDi11133.
KEGGihsa:11133.
UCSCiuc002pgy.4. human. [Q9Y664-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKPTN_HUMAN
AccessioniPrimary (citable) accession number: Q9Y664
Secondary accession number(s): B3KN86, B4DQ76, Q96GT1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 30, 2006
Last modified: October 25, 2017
This is version 120 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot