Aliases for KPTN Gene
Aliases for KPTN Gene
External Ids for KPTN Gene
- HGNC: 6404
- Entrez Gene: 11133
- Ensembl: ENSG00000118162
- OMIM: 615620
- UniProtKB: Q9Y664
Previous GeneCards Identifiers for KPTN Gene
- GC19M048625
- GC19M048369
- GC19M052654
- GC19M052670
- GC19M052657
- GC19M047978
- GC19M044406
Summaries for KPTN Gene
-
This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for KPTN Gene
KPTN (Kaptin, Actin Binding Protein) is a Protein Coding gene. Diseases associated with KPTN include Mental Retardation, Autosomal Recessive 41 and Pervasive Developmental Disorder. Gene Ontology (GO) annotations related to this gene include actin binding.
UniProtKB/Swiss-Prot for KPTN Gene
-
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.
Additional gene information for KPTN Gene
- Monarch Initiative
- Search for KPTN at DataMed
- Search for KPTN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPTN Gene
Genomics for KPTN Gene
GeneHancer (GH) Regulatory Elements for KPTN Gene
Regulatory Element Products
Genomic Locations for KPTN Gene
- chr19:47,475,141-47,486,791
- (GRCh38/hg38)
- Size:
- 11,651 bases
- Orientation:
- Minus strand
- chr19:47,978,400-47,987,525
- (GRCh37/hg19)
Genomic View for KPTN Gene
- Cytogenetic band:
-
- 19q13.32 by Ensembl
- 19q13.32 by Entrez Gene
- 19q13.32 by HGNC


RefSeq DNA sequence for KPTN Gene
Proteins for KPTN Gene
-
Protein details for KPTN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y664-KPTN_HUMAN
- Recommended name:
- KICSTOR complex protein kaptin
- Protein Accession:
- Q9Y664
- B3KN86
- B4DQ76
- Q96GT1
Protein attributes for KPTN Gene
- Size:
- 436 amino acids
- Molecular mass:
- 48080 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=AAD39358.1; Type=Frameshift; Positions=8, 14, 410, 419; Evidence={ECO:0000305};
Protein Expression for KPTN Gene
Post-translational modifications for KPTN Gene
Other Protein References for KPTN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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-
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Assay Products
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No data available for DME Specific Peptides for KPTN Gene
Domains & Families for KPTN Gene
Gene Families for KPTN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for KPTN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KPTN Gene
Function for KPTN Gene
Molecular function for KPTN Gene
- UniProtKB/Swiss-Prot Function:
- 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.
Phenotypes From GWAS Catalog for KPTN Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0051015 | actin filament binding | IDA | 10099934 |
Phenotypes for KPTN Gene
- MGI mutant phenotypes for KPTN:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KPTN:
Animal Models for KPTN Gene
- MGI Knock Outs for KPTN:
-
- Kptn tm1a(EUCOMM)Wtsi
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miRNA for KPTN Gene
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-
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KPTN Gene
Localization for KPTN Gene
Subcellular locations from UniProtKB/Swiss-Prot for KPTN Gene
- Lysosome membrane. Cell projection, lamellipodium. Cell projection, stereocilium. Note=Localization to lysosomes is amino acid-independent (PubMed:28199306). Colocalizes with F-actin (PubMed:24239382). {ECO:0000269 PubMed:24239382, ECO:0000269 PubMed:28199306}.
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0015629 | actin cytoskeleton | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030027 | lamellipodium | IDA,IEA | 10099934 |
Pathways & Interactions for KPTN Gene
Interacting Proteins for KPTN Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007015 | actin filament organization | IEA | -- |
GO:0034198 | cellular response to amino acid starvation | IMP | 28199306 |
GO:0042149 | cellular response to glucose starvation | IMP | 28199306 |
GO:0061462 | protein localization to lysosome | IMP | 28199306 |
GO:1904262 | negative regulation of TORC1 signaling | IMP | 28199306 |
No data available for Pathways by source and SIGNOR curated interactions for KPTN Gene
Transcripts for KPTN Gene
mRNA/cDNA for KPTN Gene
- (7) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (98) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KPTN Gene
CRISPR Products
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-
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KPTN
- genomics-online: cdna clones - Search results for available KPTN gene related products
- orf clones - Search results for available KPTN gene related products
- Applied Biological Materials Clones for KPTN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
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SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - |
Expression for KPTN Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KPTN Gene
NURSA nuclear receptor signaling pathways regulating expression of KPTN Gene:
KPTNSOURCE GeneReport for Unigene cluster for KPTN Gene:
Hs.25441Evidence on tissue expression from TISSUES for KPTN Gene
- Muscle(4.2)
- Nervous system(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KPTN Gene
- ectoderm
- mesoderm
- integumentary
- nervous
- skeletal muscle
- skeleton
- brain
- eye
- eyelid
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- skull
- tooth
- digit
- finger
- hand
- upper limb
- skin
Primer Products
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OriGene qPCR primer pairs and template standards for KPTN
-
OriGene qPCR primer pairs for KPTN
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KPTN Gene
Orthologs for KPTN Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | KPTN 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | KPTN 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | KPTN 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Kptn 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | KPTN 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | KPTN 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | KPTN 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | kptn 33 |
|
||
Str.12230 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25661 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | kptn 33 34 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for KPTN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for KPTN Gene
No data available for Paralogs for KPTN Gene
Variants for KPTN Gene
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1046273 | benign, Mental retardation, autosomal recessive 41 | 47,475,482(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
rs142867197 | uncertain-significance, not specified, not provided, Mental retardation, autosomal recessive 41 | 47,483,973(-) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs182019900 | benign, likely-benign, not specified, not provided, Mental retardation, autosomal recessive 41 | 47,480,376(-) | C/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs199648809 | uncertain-significance, Mental retardation, autosomal recessive 41 | 47,476,834(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs374298314 | pathogenic, Mental retardation, autosomal recessive 41, not provided | 47,479,874(-) | G/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758765 | CNV | loss | 17122850 |
nsv1056887 | CNV | gain | 25217958 |
nsv1143921 | CNV | deletion | 24896259 |
nsv428366 | CNV | loss | 18775914 |
nsv579888 | CNV | gain | 21841781 |
Additional Variant Information for KPTN Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KPTN Gene
Disorders for KPTN Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal recessive 41 |
|
|
pervasive developmental disorder |
|
|
UniProtKB/Swiss-Prot
KPTN_HUMAN- Mental retardation, autosomal recessive 41 (MRT41) [MIM:615637]: A 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. {ECO:0000269 PubMed:24239382}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KPTN
No data available for Genatlas for KPTN Gene
Publications for KPTN Gene
- 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear. (PMID: 10099934) Bearer EL … Abraham MT (European journal of cell biology 1999) 2 3 4 22 58
- KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4 58
- Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. (PMID: 24239382) Baple EL … Crosby AH (American journal of human genetics 2014) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
Products for KPTN Gene
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Sources for KPTN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
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- (68) Cloud-Clone Corp.
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