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Q9Y664

- KPTN_HUMAN

UniProt

Q9Y664 - KPTN_HUMAN

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Protein

Kaptin

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

Functioni

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.3 Publications

GO - Molecular functioni

  1. actin binding Source: ProtInc

GO - Biological processi

  1. actin filament organization Source: ProtInc
  2. cellular component movement Source: ProtInc
  3. sensory perception of sound Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Kaptin
Alternative name(s):
Actin-associated protein 2E4
Gene namesi
Name:KPTN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6404. KPTN.

Subcellular locationi

Cytoplasm. Cytoplasmperinuclear region. Cell projectionstereocilium. Cell projectiongrowth 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.3 Publications

GO - Cellular componenti

  1. actin cytoskeleton Source: ProtInc
  2. growth cone Source: UniProtKB-SubCell
  3. microtubule organizing center Source: ProtInc
  4. nucleus Source: ProtInc
  5. perinuclear region of cytoplasm Source: UniProtKB-SubCell
  6. stereocilium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti241 – 2411M → MWSVLQ in MRT41; the mutant proteins do not accumulate to F-actin-rich lamellipodia but instead accumulate at irregular perinuclear sites.
VAR_070974

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi615637. phenotype.
PharmGKBiPA30194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 436436KaptinPRO_0000239234Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9Y664.
PaxDbiQ9Y664.
PRIDEiQ9Y664.

PTM databases

PhosphoSiteiQ9Y664.

Expressioni

Gene expression databases

ArrayExpressiQ9Y664.
BgeeiQ9Y664.
CleanExiHS_KPTN.
GenevestigatoriQ9Y664.

Organism-specific databases

HPAiHPA041710.
HPA041796.

Interactioni

Subunit structurei

Associates with one end of F-actin filaments.

Protein-protein interaction databases

BioGridi116306. 7 interactions.
IntActiQ9Y664. 1 interaction.
STRINGi9606.ENSP00000337850.

Structurei

3D structure databases

ProteinModelPortaliQ9Y664.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG38850.
HOGENOMiHOG000008052.
HOVERGENiHBG061148.
InParanoidiQ9Y664.
OMAiCQSGYVR.
OrthoDBiEOG7TTQ7H.
PhylomeDBiQ9Y664.
TreeFamiTF328973.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MMGEAAVAAG PCPLREDSFT RFSSQSNVYG LAGGAGGRGE LLAATLKGKV    50
LGFRYQDLRQ KIRPVAKELQ FNYIPVDAEI VSIDTFNKSP PKRGLVVGIT 100
FIKDSGDKGS PFLNIYCDYE PGSEYNLDSI AQSCLNLELQ FTPFQLCHAE 150
VQVGDQLETV FLLSGNDPAI HLYKENEGLH QFEEQPVENL FPELTNLTSS 200
VLWLDVHNFP GTSRRLSALG CQSGYVRVAH VDQRSREVLQ MWSVLQDGPI 250
SRVIVFSLSA AKETKDRPLQ DEYSVLVASM LEPAVVYRDL LNRGLEDQLL 300
LPGSDQFDSV LCSLVTDVDL DGRPEVLVAT YGQELLCYKY RGPESGLPEA 350
QHGFHLLWQR SFSSPLLAMA HVDLTGDGLQ ELAVVSLKGV HILQHSLIQA 400
SELVLTRLRH QVEQRRRRLQ GLEDGAGAGP AENAAS 436
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

The sequence AAD39358.1 differs from that shown. Reason: Frameshift at positions 8, 14, 410 and 419.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti241 – 2411M → MWSVLQ in MRT41; the mutant proteins do not accumulate to F-actin-rich lamellipodia but instead accumulate at irregular perinuclear sites.
VAR_070974

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 240240Missing in isoform 2. VSP_053990Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261S → N in AAD39358. 1 Publication
Sequence conflicti26 – 261S → N in AAF98790. 1 Publication
Sequence conflicti121 – 1211P → T in AAD39358. 1 Publication
Sequence conflicti121 – 1211P → T in AAF98790. 1 Publication
Sequence conflicti124 – 1241E → V in AAD39358. 1 Publication
Sequence conflicti124 – 1241E → V in AAF98790. 1 Publication
Sequence conflicti128 – 1281D → V in AAD39358. 1 Publication
Sequence conflicti128 – 1281D → V in AAF98790. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000536339; ENSP00000442579; ENSG00000118162.
GeneIDi11133.
KEGGihsa:11133.
UCSCiuc002pgy.3. human. [Q9Y664-1]

Polymorphism databases

DMDMi108936022.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS42583.1. [Q9Y664-1 ]
RefSeqi NP_001278225.1. NM_001291296.1.
NP_008990.2. NM_007059.3. [Q9Y664-1 ]
UniGenei Hs.25441.

3D structure databases

ProteinModelPortali Q9Y664.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116306. 7 interactions.
IntActi Q9Y664. 1 interaction.
STRINGi 9606.ENSP00000337850.

PTM databases

PhosphoSitei Q9Y664.

Polymorphism databases

DMDMi 108936022.

Proteomic databases

MaxQBi Q9Y664.
PaxDbi Q9Y664.
PRIDEi Q9Y664.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338134 ; ENSP00000337850 ; ENSG00000118162 .
ENST00000536339 ; ENSP00000442579 ; ENSG00000118162 .
GeneIDi 11133.
KEGGi hsa:11133.
UCSCi uc002pgy.3. human. [Q9Y664-1 ]

Organism-specific databases

CTDi 11133.
GeneCardsi GC19M047978.
HGNCi HGNC:6404. KPTN.
HPAi HPA041710.
HPA041796.
MIMi 615620. gene.
615637. phenotype.
neXtProti NX_Q9Y664.
PharmGKBi PA30194.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG38850.
HOGENOMi HOG000008052.
HOVERGENi HBG061148.
InParanoidi Q9Y664.
OMAi CQSGYVR.
OrthoDBi EOG7TTQ7H.
PhylomeDBi Q9Y664.
TreeFami TF328973.

Miscellaneous databases

ChiTaRSi KPTN. human.
GeneWikii Kaptin_(actin_binding_protein).
GenomeRNAii 11133.
NextBioi 35474063.
PROi Q9Y664.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y664.
Bgeei Q9Y664.
CleanExi HS_KPTN.
Genevestigatori Q9Y664.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells."
    Bearer E.L.
    J. Neurosci. 12:750-761(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
  2. "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear."
    Bearer E.L., Abraham M.T.
    Eur. J. Cell Biol. 78:117-126(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, SUBCELLULAR LOCATION.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  4. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Muscle.
  7. "2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4."
    Bearer E.L., Chen A.F., Chen A.H., Li Z., Mark H.-F., Smith R.J.H., Jackson C.L.
    Ann. Hum. Genet. 64:189-196(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, POSSIBLE INVOLVEMENT IN HEARING LOSS.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: FUNCTION, VARIANT MRT41 241-MET--GLN-246 INS, CHARACTERIZATION OF VARIANT MRT41 241-MET--GLN-246 INS.

Entry informationi

Entry nameiKPTN_HUMAN
AccessioniPrimary (citable) accession number: Q9Y664
Secondary accession number(s): B3KN86, B4DQ76, Q96GT1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 30, 2006
Last modified: September 3, 2014
This is version 94 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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