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Protein

LisH domain and HEAT repeat-containing protein KIAA1468

Gene

KIAA1468

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 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
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:29289. KIAA1468.

Pathology & Biotechi

Organism-specific databases

DisGeNETi57614.
OpenTargetsiENSG00000134444.
PharmGKBiPA134865247.

Polymorphism and mutation databases

BioMutaiKIAA1468.
DMDMi166218823.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003130932 – 1216LisH domain and HEAT repeat-containing protein KIAA1468Add BLAST1215

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei20PhosphoserineCombined sources1
Modified residuei22PhosphoserineCombined sources1
Modified residuei32PhosphothreonineBy similarity1
Modified residuei54PhosphoserineCombined sources1
Modified residuei56PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1
Modified residuei182PhosphoserineCombined sources1
Modified residuei183PhosphothreonineCombined sources1
Modified residuei186PhosphoserineCombined sources1
Modified residuei385PhosphoserineBy similarity1
Modified residuei453PhosphoserineCombined sources1
Modified residuei792PhosphoserineBy similarity1
Modified residuei1149PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9P260.
MaxQBiQ9P260.
PaxDbiQ9P260.
PeptideAtlasiQ9P260.
PRIDEiQ9P260.

PTM databases

iPTMnetiQ9P260.
PhosphoSitePlusiQ9P260.

Expressioni

Gene expression databases

BgeeiENSG00000134444.
CleanExiHS_KIAA1468.
ExpressionAtlasiQ9P260. baseline and differential.
GenevisibleiQ9P260. HS.

Organism-specific databases

HPAiHPA039708.
HPA040038.

Interactioni

Protein-protein interaction databases

BioGridi121661. 11 interactors.
IntActiQ9P260. 2 interactors.
STRINGi9606.ENSP00000381198.

Structurei

3D structure databases

ProteinModelPortaliQ9P260.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini255 – 287LisHPROSITE-ProRule annotationAdd BLAST33
Repeati601 – 639HEAT 1Add BLAST39
Repeati640 – 679HEAT 2Add BLAST40
Repeati1004 – 1042HEAT 3Add BLAST39

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili197 – 231Sequence analysisAdd BLAST35
Coiled coili359 – 397Sequence analysisAdd BLAST39

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IUDI. Eukaryota.
ENOG410Y5MU. LUCA.
GeneTreeiENSGT00390000004385.
HOGENOMiHOG000067741.
HOVERGENiHBG062583.
InParanoidiQ9P260.
OMAiQDQYSLH.
OrthoDBiEOG091G02TM.
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.
[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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_037660929G → E in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs770815767dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030016920Q → QIKEYLHIHNEISWEWDPSL NTKCVSYTHYTHSLK in isoform 2. 1 Publication1
Alternative sequenceiVSP_030017991 – 1017TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc002lil.4. human. [Q9P260-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9P260.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121661. 11 interactors.
IntActiQ9P260. 2 interactors.
STRINGi9606.ENSP00000381198.

PTM databases

iPTMnetiQ9P260.
PhosphoSitePlusiQ9P260.

Polymorphism and mutation databases

BioMutaiKIAA1468.
DMDMi166218823.

Proteomic databases

EPDiQ9P260.
MaxQBiQ9P260.
PaxDbiQ9P260.
PeptideAtlasiQ9P260.
PRIDEiQ9P260.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256858; ENSP00000256858; ENSG00000134444. [Q9P260-2]
ENST00000398130; ENSP00000381198; ENSG00000134444. [Q9P260-1]
GeneIDi57614.
KEGGihsa:57614.
UCSCiuc002lil.4. human. [Q9P260-1]

Organism-specific databases

CTDi57614.
DisGeNETi57614.
GeneCardsiKIAA1468.
HGNCiHGNC:29289. KIAA1468.
HPAiHPA039708.
HPA040038.
neXtProtiNX_Q9P260.
OpenTargetsiENSG00000134444.
PharmGKBiPA134865247.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUDI. Eukaryota.
ENOG410Y5MU. LUCA.
GeneTreeiENSGT00390000004385.
HOGENOMiHOG000067741.
HOVERGENiHBG062583.
InParanoidiQ9P260.
OMAiQDQYSLH.
OrthoDBiEOG091G02TM.
PhylomeDBiQ9P260.
TreeFamiTF329740.

Miscellaneous databases

ChiTaRSiKIAA1468. human.
GenomeRNAii57614.
PROiQ9P260.

Gene expression databases

BgeeiENSG00000134444.
CleanExiHS_KIAA1468.
ExpressionAtlasiQ9P260. baseline and differential.
GenevisibleiQ9P260. HS.

Family and domain databases

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

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: November 2, 2016
This is version 109 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

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 one 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.