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. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
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. GO annotations related to this gene include actin binding.
UniProtKB/Swiss-Prot for KPTN Gene
-
Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPTN Gene
Genomics for KPTN Gene
Regulatory Elements for KPTN Gene
Enhancers for KPTN Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around KPTN on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the KPTN gene promoter:
Regulatory Element Products
Genomic Location for KPTN Gene
- Chromosome:
- 19
- Start:
- 47,475,141 bp from pter
- End:
- 47,486,791 bp from pter
- Size:
- 11,651 bases
- Orientation:
- Minus strand
Genomic View for KPTN Gene
Genes around KPTN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by Ensembl
- 19q13.32 by Entrez Gene
- 19q13.32 by HGNC
KPTN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
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:
- Kaptin
- Protein Accession:
- Q9Y664
- B3KN86
- B4DQ76
- Q96GT1
Protein attributes for KPTN Gene
- Size:
- 436 amino acids
- Molecular mass:
- 48080 Da
- Quaternary structure:
-
- Associates with one end of F-actin filaments.
- 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
-
Custom Antibody ServicesOriGene Antibodies for KPTN
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-
Abcam antibodies for KPTN
- Invitrogen Antibodies for KPTN
- antibodies-online Antibodies for KPTN: See all 42
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-
St John's Laboratory Antibodies for KPTN
-
Santa Cruz Biotechnology (SCBT) Antibodies for KPTN
Protein Products
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OriGene Purified Proteins for KPTN
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-
Abcam proteins for KPTN
Assay Products
No data available for DME Specific Peptides for KPTN Gene
Domains & Families for KPTN Gene
Suggested Antigen Peptide Sequences for KPTN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for KPTN Gene
Function for KPTN Gene
Molecular function for KPTN Gene
- UniProtKB/Swiss-Prot Function:
- Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
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
Animal Model Products
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-
-
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-
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CRISPR Products
-
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miRNA for KPTN Gene
- miRTarBase miRNAs that target KPTN
miRNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- 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
Cell Line Products
-
Horizon Cell Lines for KPTN
-
ViGene Biosciences adenoviral particle packaged cDNA for KPTN gene
-
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-
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Flow Cytometry Products
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
- Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection, growth cone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization in motile fibroblasts and neuronal growth cones.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS | 1372044 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005815 | microtubule organizing center | TAS | 1372044 |
| GO:0015629 | actin cytoskeleton | IEA | -- |
| GO:0030426 | growth cone | IEA | -- |
Pathways & Interactions for KPTN Gene
No Data Available
Interacting Proteins for KPTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006928 | movement of cell or subcellular component | TAS | 10099934 |
| GO:0007015 | actin filament organization | IEA | -- |
| GO:0007605 | sensory perception of sound | NAS | 10099934 |
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
-
OriGene CRISPR knockouts for KPTN
- GenScript: Design CRISPR guide RNA sequences for KPTN
miRNA Products
- Search ViGene Biosciences for KPTN
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for KPTN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KPTN
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- 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
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - |
Expression for KPTN Gene
This gene is overexpressed in Ovary (49.5) and Islet of Langerhans (15.9).
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.25441Primer Products
-
OriGene qPCR primer pairs and template standards for KPTN
-
OriGene qPCR primer pairs for KPTN
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 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KPTN 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | KPTN 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Kptn 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KPTN 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KPTN 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KPTN 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kptn 34 |
|
||
| Str.12230 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25661 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kptn 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs374298314 | Pathogenic | 47,479,874(+) | CGGCC(A/G/T)AGAGG | nc-transcript-variant, reference, missense, stop-gained | |
| rs587777148 | Pathogenic | 47,479,936(+) | GCAGA(-/ACCGACCACATCTGCAGA)ACCTC | nc-transcript-variant, cds-indel | |
| rs142867197 | Uncertain significance | 47,483,973(+) | CTGGC(C/T)GGATT | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs10410138 | -- | 47,475,997(+) | aacaa(A/C)caaaa | intron-variant | |
| rs10413780 | -- | 47,485,305(+) | cagtt(G/T)agaga | intron-variant, upstream-variant-2KB, utr-variant-5-prime |
| 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 |
Residual Variation Intolerance Score:
42.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.98;
36.59% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links 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 |
|
|
Search KPTN in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for KPTN
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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 E.L. … Abraham M.T. (Eur. J. Cell Biol. 1999) 2 3 4 22 64
- 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4. (PMID: 11409409) Bearer E.L. … Jackson C.L. (Ann. Hum. Genet. 2000) 3 4 22 64
- Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. (PMID: 24239382) Baple E.L. … Crosby A.H. (Am. J. Hum. Genet. 2014) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for KPTN Gene
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- VectorBuilder custom plasmid, inducible vectors for KPTN
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- 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
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
- (116) SCBT
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- (122) diseasecard
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- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
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- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
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- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab