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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 KIAA1468
PRO_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 – 321Phosphothreonine By 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

ArrayExpressiQ9P260.
BgeeiQ9P260.
CleanExiHS_KIAA1468.
GenevestigatoriQ9P260.

Organism-specific databases

HPAiHPA039708.
HPA040038.

Interactioni

Protein-protein interaction databases

BioGridi121661. 8 interactions.
IntActiQ9P260. 2 interactions.
STRINGi9606.ENSP00000381198.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili197 – 23135 Reviewed prediction
Add
BLAST
Coiled coili359 – 39739 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 3 HEAT repeats.
Contains 1 LisH domain.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG139708.
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

MAAMAPGGSG SGGGVNPFLS DSDEDDDEVA ATEERRAVLR LGAGSGLDPG     50
SAGSLSPQDP VALGSSARPG LPGEASAAAV ALGGTGETPA RLSIDAIAAQ 100
LLRDQYLLTA LELHTELLES GRELPRLRDY FSNPGNFERQ SGTPPGMGAP 150
GVPGAAGVGG AGGREPSTAS GGGQLNRAGS ISTLDSLDFA RYSDDGNRET 200
DEKVAVLEFE LRKAKETIQA LRANLTKAAE HEVPLQERKN YKSSPEIQEP 250
IKPLEKRALN FLVNEFLLKN NYKLTSITFS DENDDQDFEL WDDVGLNIPK 300
PPDLLQLYRD FGNHQVTGKD LVDVASGVEE DELEALTPII SNLPPTLETP 350
QPAENSMLVQ KLEDKISLLN SEKWSLMEQI RRLKSEMDFL KNEHFAIPAV 400
CDSVQPPLDQ LPHKDSEDSG QHPDVNSSDK GKNTDIHLSI SDEADSTIPK 450
ENSPNSFPRR EREGMPPSSL SSKKTVHFDK PNRKLSPAFH QALLSFCRMS 500
ADSRLGYEVS RIADSEKSVM LMLGRCLPHI VPNVLLAKRE ELIPLILCTA 550
CLHPEPKERD QLLHILFNLI KRPDDEQRQM ILTGCVAFAR HVGPTRVEAE 600
LLPQCWEQIN HKYPERRLLV AESCGALAPY LPKEIRSSLV LSMLQQMLME 650
DKADLVREAV IKSLGIIMGY IDDPDKYHQG FELLLSALGD PSERVVSATH 700
QVFLPAYAAW TTELGNLQSH LILTLLNKIE KLLREGEHGL DEHKLHMYLS 750
ALQSLIPSLF ALVLQNAPFS SKAKLHGEVP QIEVTRFPRP MSPLQDVSTI 800
IGSREQLAVL LQLYDYQLEQ EGTTGWESLL WVVNQLLPQL IEIVGKINVT 850
STACVHEFSR FFWRLCRTFG KIFTNTKVKP QFQEILRLSE ENIDSSAGNG 900
VLTKATVPIY ATGVLTCYIQ EEDRKLLVGF LEDVMTLLSL SHAPLDSLKA 950
SFVELGANPA YHELLLTVLW YGVVHTSALV RCTAARMFEL TLRGMSEALV 1000
DKRVAPALVT LSSDPEFSVR IATIPAFGTI METVIQRELL ERVKMQLASF 1050
LEDPQYQDQH SLHTEIIKTF GRVGPNAEPR FRDEFVIPHL HKLALVNNLQ 1100
IVDSKRLDIA THLFEAYSAL SCCFISEDLM VNHFLPGLRC LRTDMEHLSP 1150
EHEVILSSMI KECEQKVENK TVQEPQGSMS IAASLVSEDT KTKFLNKMGQ 1200
LTTSGAMLAN VFQRKK 1216
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.
VSP_030016
Alternative sequencei991 – 101727TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2.
VSP_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. 8 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.
HOGENOMi HOG000067741.
HOVERGENi HBG062583.
InParanoidi Q9P260.
OMAi EMDFLKN.
OrthoDBi EOG790FZX.
PhylomeDBi Q9P260.
TreeFami TF329740.

Miscellaneous databases

GenomeRNAii 57614.
NextBioi 64272.

Gene expression databases

ArrayExpressi Q9P260.
Bgeei Q9P260.
CleanExi HS_KIAA1468.
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: July 9, 2014
This is version 90 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

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