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Q9Y664 (KPTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kaptin
Alternative name(s):
Actin-associated protein 2E4
Gene names
Name:KPTN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length436 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1 Ref.2 Ref.9

Subunit structure

Associates with one end of F-actin filaments.

Subcellular location

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. Ref.1 Ref.2 Ref.7

Involvement in disease

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. Ref.9

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y664-1)

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.
Isoform 2 (identifier: Q9Y664-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-240: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 436436Kaptin
PRO_0000239234

Amino acid modifications

Modified residue11N-acetylmethionine Ref.8

Natural variations

Alternative sequence1 – 240240Missing in isoform 2.
VSP_053990
Natural variant2411M → MWSVLQ in MRT41; the mutant proteins do not accumulate to F-actin-rich lamellipodia but instead accumulate at irregular perinuclear sites.
VAR_070974

Experimental info

Sequence conflict261S → N in AAD39358. Ref.1
Sequence conflict261S → N in AAF98790. Ref.1
Sequence conflict1211P → T in AAD39358. Ref.1
Sequence conflict1211P → T in AAF98790. Ref.1
Sequence conflict1241E → V in AAD39358. Ref.1
Sequence conflict1241E → V in AAF98790. Ref.1
Sequence conflict1281D → V in AAD39358. Ref.1
Sequence conflict1281D → V in AAF98790. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 30, 2006. Version 2.
Checksum: 128C0D87C0850E8E

FASTA43648,080
        10         20         30         40         50         60 
MMGEAAVAAG PCPLREDSFT RFSSQSNVYG LAGGAGGRGE LLAATLKGKV LGFRYQDLRQ 

        70         80         90        100        110        120 
KIRPVAKELQ FNYIPVDAEI VSIDTFNKSP PKRGLVVGIT FIKDSGDKGS PFLNIYCDYE 

       130        140        150        160        170        180 
PGSEYNLDSI AQSCLNLELQ FTPFQLCHAE VQVGDQLETV FLLSGNDPAI HLYKENEGLH 

       190        200        210        220        230        240 
QFEEQPVENL FPELTNLTSS VLWLDVHNFP GTSRRLSALG CQSGYVRVAH VDQRSREVLQ 

       250        260        270        280        290        300 
MWSVLQDGPI SRVIVFSLSA AKETKDRPLQ DEYSVLVASM LEPAVVYRDL LNRGLEDQLL 

       310        320        330        340        350        360 
LPGSDQFDSV LCSLVTDVDL DGRPEVLVAT YGQELLCYKY RGPESGLPEA QHGFHLLWQR 

       370        380        390        400        410        420 
SFSSPLLAMA HVDLTGDGLQ ELAVVSLKGV HILQHSLIQA SELVLTRLRH QVEQRRRRLQ 

       430 
GLEDGAGAGP AENAAS 

« Hide

Isoform 2 [UniParc].

Checksum: 91ECF26D92428E17
Show »

FASTA19621,583

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures."
Baple E.L., Maroofian R., Chioza B.A., Izadi M., Cross H.E., Al-Turki S., Barwick K., Skrzypiec A., Pawlak R., Wagner K., Coblentz R., Zainy T., Patton M.A., Mansour S., Rich P., Qualmann B., Hurles M.E., Kessels M.M., Crosby A.H.
Am. J. Hum. Genet. 94:87-94(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT MRT41 241-MET--GLN-246 INS, CHARACTERIZATION OF VARIANT MRT41 241-MET--GLN-246 INS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS42583.1.
RefSeqNP_001278225.1. NM_001291296.1.
NP_008990.2. NM_007059.3. [Q9Y664-1]
UniGeneHs.25441.

3D structure databases

ProteinModelPortalQ9Y664.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116306. 7 interactions.
IntActQ9Y664. 1 interaction.
STRING9606.ENSP00000337850.

PTM databases

PhosphoSiteQ9Y664.

Polymorphism databases

DMDM108936022.

Proteomic databases

MaxQBQ9Y664.
PaxDbQ9Y664.
PRIDEQ9Y664.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338134; ENSP00000337850; ENSG00000118162.
ENST00000536339; ENSP00000442579; ENSG00000118162.
GeneID11133.
KEGGhsa:11133.
UCSCuc002pgy.3. human. [Q9Y664-1]

Organism-specific databases

CTD11133.
GeneCardsGC19M047978.
HGNCHGNC:6404. KPTN.
HPAHPA041710.
HPA041796.
MIM615620. gene.
615637. phenotype.
neXtProtNX_Q9Y664.
PharmGKBPA30194.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG38850.
HOGENOMHOG000008052.
HOVERGENHBG061148.
InParanoidQ9Y664.
OMACQSGYVR.
OrthoDBEOG7TTQ7H.
PhylomeDBQ9Y664.
TreeFamTF328973.

Gene expression databases

ArrayExpressQ9Y664.
BgeeQ9Y664.
CleanExHS_KPTN.
GenevestigatorQ9Y664.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSKPTN. human.
GeneWikiKaptin_(actin_binding_protein).
GenomeRNAi11133.
NextBio35474063.
PROQ9Y664.
SOURCESearch...

Entry information

Entry nameKPTN_HUMAN
AccessionPrimary (citable) accession number: Q9Y664
Secondary accession number(s): B3KN86, B4DQ76, Q96GT1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 30, 2006
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM