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Protein

Kaptin

Gene

KPTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.

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 411 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)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.
Orphaneti397612. Macrocephaly-developmental delay syndrome.
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

BgeeiQ9Y664.
CleanExiHS_KPTN.
ExpressionAtlasiQ9Y664. baseline and differential.
GenevestigatoriQ9Y664.

Organism-specific databases

HPAiHPA041710.
HPA041796.

Interactioni

Subunit structurei

Associates with one end of F-actin filaments.

Protein-protein interaction databases

BioGridi116306. 35 interactions.
IntActiQ9Y664. 1 interaction.
STRINGi9606.ENSP00000337850.

Structurei

3D structure databases

ProteinModelPortaliQ9Y664.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG38850.
GeneTreeiENSGT00390000002548.
HOGENOMiHOG000008052.
HOVERGENiHBG061148.
InParanoidiQ9Y664.
OMAiAHVDQRS.
OrthoDBiEOG7TTQ7H.
PhylomeDBiQ9Y664.
TreeFamiTF328973.

Family and domain databases

InterProiIPR029982. Kptn.
[Graphical view]
PANTHERiPTHR15435:SF2. PTHR15435:SF2. 1 hit.

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

        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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261S → N in AAD39358. (PubMed:1372044)Curated
Sequence conflicti26 – 261S → N in AAF98790. (PubMed:1372044)Curated
Sequence conflicti121 – 1211P → T in AAD39358. (PubMed:1372044)Curated
Sequence conflicti121 – 1211P → T in AAF98790. (PubMed:1372044)Curated
Sequence conflicti124 – 1241E → V in AAD39358. (PubMed:1372044)Curated
Sequence conflicti124 – 1241E → V in AAF98790. (PubMed:1372044)Curated
Sequence conflicti128 – 1281D → V in AAD39358. (PubMed:1372044)Curated
Sequence conflicti128 – 1281D → V in AAF98790. (PubMed:1372044)Curated

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. 1 PublicationVSP_053990Add
BLAST

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.3. human. [Q9Y664-1]

Polymorphism databases

DMDMi108936022.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9Y664.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116306. 35 interactions.
IntActiQ9Y664. 1 interaction.
STRINGi9606.ENSP00000337850.

PTM databases

PhosphoSiteiQ9Y664.

Polymorphism databases

DMDMi108936022.

Proteomic databases

MaxQBiQ9Y664.
PaxDbiQ9Y664.
PRIDEiQ9Y664.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338134; ENSP00000337850; ENSG00000118162. [Q9Y664-1]
GeneIDi11133.
KEGGihsa:11133.
UCSCiuc002pgy.3. human. [Q9Y664-1]

Organism-specific databases

CTDi11133.
GeneCardsiGC19M047978.
HGNCiHGNC:6404. KPTN.
HPAiHPA041710.
HPA041796.
MIMi615620. gene.
615637. phenotype.
neXtProtiNX_Q9Y664.
Orphaneti397612. Macrocephaly-developmental delay syndrome.
PharmGKBiPA30194.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG38850.
GeneTreeiENSGT00390000002548.
HOGENOMiHOG000008052.
HOVERGENiHBG061148.
InParanoidiQ9Y664.
OMAiAHVDQRS.
OrthoDBiEOG7TTQ7H.
PhylomeDBiQ9Y664.
TreeFamiTF328973.

Miscellaneous databases

ChiTaRSiKPTN. human.
GeneWikiiKaptin_(actin_binding_protein).
GenomeRNAii11133.
NextBioi35474063.
PROiQ9Y664.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y664.
CleanExiHS_KPTN.
ExpressionAtlasiQ9Y664. baseline and differential.
GenevestigatoriQ9Y664.

Family and domain databases

InterProiIPR029982. Kptn.
[Graphical view]
PANTHERiPTHR15435:SF2. PTHR15435:SF2. 1 hit.
ProtoNetiSearch...

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: January 7, 2015
This is version 97 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.