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Q9P260

- K1468_HUMAN

UniProt

Q9P260 - K1468_HUMAN

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Protein

LisH domain and HEAT repeat-containing protein KIAA1468

Gene

KIAA1468

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
LisH domain and HEAT repeat-containing protein KIAA1468
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:29289. KIAA1468.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134865247.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 12161215LisH domain and HEAT repeat-containing protein KIAA1468PRO_0000313093Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei20 – 201Phosphoserine1 Publication
Modified residuei22 – 221Phosphoserine1 Publication
Modified residuei32 – 321PhosphothreonineBy similarity
Modified residuei54 – 541Phosphoserine1 Publication
Modified residuei56 – 561Phosphoserine1 Publication
Modified residuei180 – 1801Phosphoserine2 Publications
Modified residuei182 – 1821Phosphoserine1 Publication
Modified residuei183 – 1831Phosphothreonine1 Publication
Modified residuei186 – 1861Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9P260.
PaxDbiQ9P260.
PRIDEiQ9P260.

PTM databases

PhosphoSiteiQ9P260.

Expressioni

Gene expression databases

BgeeiQ9P260.
CleanExiHS_KIAA1468.
ExpressionAtlasiQ9P260. baseline and differential.
GenevestigatoriQ9P260.

Organism-specific databases

HPAiHPA039708.
HPA040038.

Interactioni

Protein-protein interaction databases

BioGridi121661. 9 interactions.
IntActiQ9P260. 2 interactions.
STRINGi9606.ENSP00000381198.

Structurei

3D structure databases

ProteinModelPortaliQ9P260.
SMRiQ9P260. Positions 561-710, 962-1035.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini255 – 28733LisHPROSITE-ProRule annotationAdd
BLAST
Repeati601 – 63939HEAT 1Add
BLAST
Repeati640 – 67940HEAT 2Add
BLAST
Repeati1004 – 104239HEAT 3Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili197 – 23135Sequence AnalysisAdd
BLAST
Coiled coili359 – 39739Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 3 HEAT repeats.PROSITE-ProRule annotation
Contains 1 LisH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG139708.
GeneTreeiENSGT00390000004385.
HOGENOMiHOG000067741.
HOVERGENiHBG062583.
InParanoidiQ9P260.
OMAiEMDFLKN.
OrthoDBiEOG790FZX.
PhylomeDBiQ9P260.
TreeFamiTF329740.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR021133. HEAT_type_2.
IPR006594. LisH_dimerisation.
[Graphical view]
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
PROSITEiPS50077. HEAT_REPEAT. 1 hit.
PS50896. LISH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9P260-1) [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
MAAMAPGGSG SGGGVNPFLS DSDEDDDEVA ATEERRAVLR LGAGSGLDPG
60 70 80 90 100
SAGSLSPQDP VALGSSARPG LPGEASAAAV ALGGTGETPA RLSIDAIAAQ
110 120 130 140 150
LLRDQYLLTA LELHTELLES GRELPRLRDY FSNPGNFERQ SGTPPGMGAP
160 170 180 190 200
GVPGAAGVGG AGGREPSTAS GGGQLNRAGS ISTLDSLDFA RYSDDGNRET
210 220 230 240 250
DEKVAVLEFE LRKAKETIQA LRANLTKAAE HEVPLQERKN YKSSPEIQEP
260 270 280 290 300
IKPLEKRALN FLVNEFLLKN NYKLTSITFS DENDDQDFEL WDDVGLNIPK
310 320 330 340 350
PPDLLQLYRD FGNHQVTGKD LVDVASGVEE DELEALTPII SNLPPTLETP
360 370 380 390 400
QPAENSMLVQ KLEDKISLLN SEKWSLMEQI RRLKSEMDFL KNEHFAIPAV
410 420 430 440 450
CDSVQPPLDQ LPHKDSEDSG QHPDVNSSDK GKNTDIHLSI SDEADSTIPK
460 470 480 490 500
ENSPNSFPRR EREGMPPSSL SSKKTVHFDK PNRKLSPAFH QALLSFCRMS
510 520 530 540 550
ADSRLGYEVS RIADSEKSVM LMLGRCLPHI VPNVLLAKRE ELIPLILCTA
560 570 580 590 600
CLHPEPKERD QLLHILFNLI KRPDDEQRQM ILTGCVAFAR HVGPTRVEAE
610 620 630 640 650
LLPQCWEQIN HKYPERRLLV AESCGALAPY LPKEIRSSLV LSMLQQMLME
660 670 680 690 700
DKADLVREAV IKSLGIIMGY IDDPDKYHQG FELLLSALGD PSERVVSATH
710 720 730 740 750
QVFLPAYAAW TTELGNLQSH LILTLLNKIE KLLREGEHGL DEHKLHMYLS
760 770 780 790 800
ALQSLIPSLF ALVLQNAPFS SKAKLHGEVP QIEVTRFPRP MSPLQDVSTI
810 820 830 840 850
IGSREQLAVL LQLYDYQLEQ EGTTGWESLL WVVNQLLPQL IEIVGKINVT
860 870 880 890 900
STACVHEFSR FFWRLCRTFG KIFTNTKVKP QFQEILRLSE ENIDSSAGNG
910 920 930 940 950
VLTKATVPIY ATGVLTCYIQ EEDRKLLVGF LEDVMTLLSL SHAPLDSLKA
960 970 980 990 1000
SFVELGANPA YHELLLTVLW YGVVHTSALV RCTAARMFEL TLRGMSEALV
1010 1020 1030 1040 1050
DKRVAPALVT LSSDPEFSVR IATIPAFGTI METVIQRELL ERVKMQLASF
1060 1070 1080 1090 1100
LEDPQYQDQH SLHTEIIKTF GRVGPNAEPR FRDEFVIPHL HKLALVNNLQ
1110 1120 1130 1140 1150
IVDSKRLDIA THLFEAYSAL SCCFISEDLM VNHFLPGLRC LRTDMEHLSP
1160 1170 1180 1190 1200
EHEVILSSMI KECEQKVENK TVQEPQGSMS IAASLVSEDT KTKFLNKMGQ
1210
LTTSGAMLAN VFQRKK
Length:1,216
Mass (Da):134,630
Last modified:January 15, 2008 - v2
Checksum:i3069B0FFFB00F41D
GO
Isoform 2 (identifier: Q9P260-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,250
Mass (Da):138,744
Checksum:i90756D9A1B4B9545
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti929 – 9291G → E in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_037660

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei920 – 9201Q → QIKEYLHIHNEISWEWDPSL NTKCVSYTHYTHSLK in isoform 2. 1 PublicationVSP_030016
Alternative sequencei991 – 101727TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2. 1 PublicationVSP_030017Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC027514 Genomic DNA. No translation available.
AC090396 Genomic DNA. No translation available.
AB040901 mRNA. Translation: BAA95992.1.
CCDSiCCDS11979.2. [Q9P260-1]
RefSeqiNP_065905.2. NM_020854.3. [Q9P260-1]
UniGeneiHs.465323.

Genome annotation databases

EnsembliENST00000256858; ENSP00000256858; ENSG00000134444. [Q9P260-2]
ENST00000398130; ENSP00000381198; ENSG00000134444. [Q9P260-1]
GeneIDi57614.
KEGGihsa:57614.
UCSCiuc002lik.1. human. [Q9P260-1]
uc002lim.3. human. [Q9P260-2]

Polymorphism databases

DMDMi166218823.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC027514 Genomic DNA. No translation available.
AC090396 Genomic DNA. No translation available.
AB040901 mRNA. Translation: BAA95992.1 .
CCDSi CCDS11979.2. [Q9P260-1 ]
RefSeqi NP_065905.2. NM_020854.3. [Q9P260-1 ]
UniGenei Hs.465323.

3D structure databases

ProteinModelPortali Q9P260.
SMRi Q9P260. Positions 561-710, 962-1035.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121661. 9 interactions.
IntActi Q9P260. 2 interactions.
STRINGi 9606.ENSP00000381198.

PTM databases

PhosphoSitei Q9P260.

Polymorphism databases

DMDMi 166218823.

Proteomic databases

MaxQBi Q9P260.
PaxDbi Q9P260.
PRIDEi Q9P260.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256858 ; ENSP00000256858 ; ENSG00000134444 . [Q9P260-2 ]
ENST00000398130 ; ENSP00000381198 ; ENSG00000134444 . [Q9P260-1 ]
GeneIDi 57614.
KEGGi hsa:57614.
UCSCi uc002lik.1. human. [Q9P260-1 ]
uc002lim.3. human. [Q9P260-2 ]

Organism-specific databases

CTDi 57614.
GeneCardsi GC18P059861.
HGNCi HGNC:29289. KIAA1468.
HPAi HPA039708.
HPA040038.
neXtProti NX_Q9P260.
PharmGKBi PA134865247.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG139708.
GeneTreei ENSGT00390000004385.
HOGENOMi HOG000067741.
HOVERGENi HBG062583.
InParanoidi Q9P260.
OMAi EMDFLKN.
OrthoDBi EOG790FZX.
PhylomeDBi Q9P260.
TreeFami TF329740.

Miscellaneous databases

GenomeRNAii 57614.
NextBioi 64272.

Gene expression databases

Bgeei Q9P260.
CleanExi HS_KIAA1468.
ExpressionAtlasi Q9P260. baseline and differential.
Genevestigatori Q9P260.

Family and domain databases

Gene3Di 1.25.10.10. 3 hits.
InterProi IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR021133. HEAT_type_2.
IPR006594. LisH_dimerisation.
[Graphical view ]
SMARTi SM00667. LisH. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 2 hits.
PROSITEi PS50077. HEAT_REPEAT. 1 hit.
PS50896. LISH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. 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. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-929.

Entry informationi

Entry nameiK1468_HUMAN
AccessioniPrimary (citable) accession number: Q9P260
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: October 29, 2014
This is version 92 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 18
    Human chromosome 18: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3