Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9P260 (K1468_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
LisH domain and HEAT repeat-containing protein KIAA1468
Gene names
Name:KIAA1468
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1216 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 3 HEAT repeats.

Contains 1 LisH domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P260-1)

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: Q9P260-2)

The sequence of this isoform differs from the canonical sequence as follows:
     920-920: Q → QIKEYLHIHNEISWEWDPSLNTKCVSYTHYTHSLK
     991-1017: TLRGMSEALVDKRVAPALVTLSSDPEF → LVKGVNETLVAQRVVPALITLSSDPEI
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 12161215LisH domain and HEAT repeat-containing protein KIAA1468
PRO_0000313093

Regions

Domain255 – 28733LisH
Repeat601 – 63939HEAT 1
Repeat640 – 67940HEAT 2
Repeat1004 – 104239HEAT 3
Coiled coil197 – 23135 Potential
Coiled coil359 – 39739 Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.7
Modified residue201Phosphoserine Ref.7
Modified residue221Phosphoserine Ref.7
Modified residue321Phosphothreonine By similarity
Modified residue541Phosphoserine Ref.5
Modified residue561Phosphoserine Ref.5
Modified residue1801Phosphoserine Ref.4 Ref.7
Modified residue1821Phosphoserine Ref.4
Modified residue1831Phosphothreonine Ref.4
Modified residue1861Phosphoserine Ref.4

Natural variations

Alternative sequence9201Q → QIKEYLHIHNEISWEWDPSL NTKCVSYTHYTHSLK in isoform 2.
VSP_030016
Alternative sequence991 – 101727TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2.
VSP_030017
Natural variant9291G → E in a colorectal cancer sample; somatic mutation. Ref.8
VAR_037660

Sequences

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

Last modified January 15, 2008. Version 2.
Checksum: 3069B0FFFB00F41D

FASTA1,216134,630
        10         20         30         40         50         60 
MAAMAPGGSG SGGGVNPFLS DSDEDDDEVA ATEERRAVLR LGAGSGLDPG SAGSLSPQDP 

        70         80         90        100        110        120 
VALGSSARPG LPGEASAAAV ALGGTGETPA RLSIDAIAAQ LLRDQYLLTA LELHTELLES 

       130        140        150        160        170        180 
GRELPRLRDY FSNPGNFERQ SGTPPGMGAP GVPGAAGVGG AGGREPSTAS GGGQLNRAGS 

       190        200        210        220        230        240 
ISTLDSLDFA RYSDDGNRET DEKVAVLEFE LRKAKETIQA LRANLTKAAE HEVPLQERKN 

       250        260        270        280        290        300 
YKSSPEIQEP IKPLEKRALN FLVNEFLLKN NYKLTSITFS DENDDQDFEL WDDVGLNIPK 

       310        320        330        340        350        360 
PPDLLQLYRD FGNHQVTGKD LVDVASGVEE DELEALTPII SNLPPTLETP QPAENSMLVQ 

       370        380        390        400        410        420 
KLEDKISLLN SEKWSLMEQI RRLKSEMDFL KNEHFAIPAV CDSVQPPLDQ LPHKDSEDSG 

       430        440        450        460        470        480 
QHPDVNSSDK GKNTDIHLSI SDEADSTIPK ENSPNSFPRR EREGMPPSSL SSKKTVHFDK 

       490        500        510        520        530        540 
PNRKLSPAFH QALLSFCRMS ADSRLGYEVS RIADSEKSVM LMLGRCLPHI VPNVLLAKRE 

       550        560        570        580        590        600 
ELIPLILCTA CLHPEPKERD QLLHILFNLI KRPDDEQRQM ILTGCVAFAR HVGPTRVEAE 

       610        620        630        640        650        660 
LLPQCWEQIN HKYPERRLLV AESCGALAPY LPKEIRSSLV LSMLQQMLME DKADLVREAV 

       670        680        690        700        710        720 
IKSLGIIMGY IDDPDKYHQG FELLLSALGD PSERVVSATH QVFLPAYAAW TTELGNLQSH 

       730        740        750        760        770        780 
LILTLLNKIE KLLREGEHGL DEHKLHMYLS ALQSLIPSLF ALVLQNAPFS SKAKLHGEVP 

       790        800        810        820        830        840 
QIEVTRFPRP MSPLQDVSTI IGSREQLAVL LQLYDYQLEQ EGTTGWESLL WVVNQLLPQL 

       850        860        870        880        890        900 
IEIVGKINVT STACVHEFSR FFWRLCRTFG KIFTNTKVKP QFQEILRLSE ENIDSSAGNG 

       910        920        930        940        950        960 
VLTKATVPIY ATGVLTCYIQ EEDRKLLVGF LEDVMTLLSL SHAPLDSLKA SFVELGANPA 

       970        980        990       1000       1010       1020 
YHELLLTVLW YGVVHTSALV RCTAARMFEL TLRGMSEALV DKRVAPALVT LSSDPEFSVR 

      1030       1040       1050       1060       1070       1080 
IATIPAFGTI METVIQRELL ERVKMQLASF LEDPQYQDQH SLHTEIIKTF GRVGPNAEPR 

      1090       1100       1110       1120       1130       1140 
FRDEFVIPHL HKLALVNNLQ IVDSKRLDIA THLFEAYSAL SCCFISEDLM VNHFLPGLRC 

      1150       1160       1170       1180       1190       1200 
LRTDMEHLSP EHEVILSSMI KECEQKVENK TVQEPQGSMS IAASLVSEDT KTKFLNKMGQ 

      1210 
LTTSGAMLAN VFQRKK 

« Hide

Isoform 2 [UniParc].

Checksum: 90756D9A1B4B9545
Show »

FASTA1,250138,744

References

[1]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-1216 (ISOFORM 2).
Tissue: Brain.
[3]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-180; SER-182; THR-183 AND SER-186, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[5]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54 AND SER-56, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20; SER-22 AND SER-180, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[8]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-929.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC027514 Genomic DNA. No translation available.
AC090396 Genomic DNA. No translation available.
AB040901 mRNA. Translation: BAA95992.1.
RefSeqNP_065905.2. NM_020854.3.
UniGeneHs.465323.

3D structure databases

ProteinModelPortalQ9P260.
SMRQ9P260. Positions 561-710, 962-1035.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121661. 8 interactions.
IntActQ9P260. 2 interactions.
STRING9606.ENSP00000381198.

PTM databases

PhosphoSiteQ9P260.

Polymorphism databases

DMDM166218823.

Proteomic databases

PaxDbQ9P260.
PRIDEQ9P260.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256858; ENSP00000256858; ENSG00000134444. [Q9P260-2]
ENST00000398130; ENSP00000381198; ENSG00000134444. [Q9P260-1]
GeneID57614.
KEGGhsa:57614.
UCSCuc002lik.1. human. [Q9P260-1]
uc002lim.3. human. [Q9P260-2]

Organism-specific databases

CTD57614.
GeneCardsGC18P059861.
HGNCHGNC:29289. KIAA1468.
HPAHPA039708.
HPA040038.
neXtProtNX_Q9P260.
PharmGKBPA134865247.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG139708.
HOGENOMHOG000067741.
HOVERGENHBG062583.
InParanoidQ9P260.
OMAEMDFLKN.
OrthoDBEOG790FZX.
PhylomeDBQ9P260.
TreeFamTF329740.

Gene expression databases

ArrayExpressQ9P260.
BgeeQ9P260.
CleanExHS_KIAA1468.
GenevestigatorQ9P260.

Family and domain databases

Gene3D1.25.10.10. 3 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR021133. HEAT_type_2.
IPR006594. LisH_dimerisation.
[Graphical view]
SMARTSM00667. LisH. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
PROSITEPS50077. HEAT_REPEAT. 1 hit.
PS50896. LISH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57614.
NextBio64272.

Entry information

Entry nameK1468_HUMAN
AccessionPrimary (citable) accession number: Q9P260
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: April 16, 2014
This is version 88 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

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM