UniProtKB - Q9P260 (RELCH_HUMAN)
RAB11-binding protein RELCH
RELCH
Functioni
GO - Biological processi
- intracellular cholesterol transport Source: UniProtKB
Keywordsi
Biological process | Lipid transport, Transport |
Names & Taxonomyi
Protein namesi | Recommended name: RAB11-binding protein RELCHCuratedAlternative name(s): LisH domain and HEAT repeat-containing protein KIAA1468 RAB11 binding and LisH domain, coiled-coil and HEAT repeat-containingImported RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats1 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29289 RELCH |
MIMi | 618001 gene |
neXtProti | NX_Q9P260 |
Subcellular locationi
Endosome
- Recycling endosome 1 Publication
Golgi apparatus
- trans-Golgi network 1 Publication
Note: Translocated to the trans-Golgi network area in an OSBP-dependent manner (PubMed:29514919). Colocalizes with RAB11A in recycling endosomes (By similarity). Found in a complex composed of RELCH, OSBP1 and RAB11A (By similarity).By similarity1 Publication
Endosome
- recycling endosome Source: UniProtKB
Golgi apparatus
- trans-Golgi network Source: UniProtKB
Keywords - Cellular componenti
Endosome, Golgi apparatusPathology & Biotechi
Organism-specific databases
DisGeNETi | 57614 |
OpenTargetsi | ENSG00000134444 |
PharmGKBi | PA134865247 |
Miscellaneous databases
Pharosi | Q9P260 |
Polymorphism and mutation databases
BioMutai | KIAA1468 |
DMDMi | 166218823 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000313093 | 2 – 1216 | RAB11-binding protein RELCHAdd BLAST | 1215 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 20 | PhosphoserineCombined sources | 1 | |
Modified residuei | 22 | PhosphoserineCombined sources | 1 | |
Modified residuei | 32 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 54 | PhosphoserineCombined sources | 1 | |
Modified residuei | 56 | PhosphoserineCombined sources | 1 | |
Modified residuei | 180 | PhosphoserineCombined sources | 1 | |
Modified residuei | 182 | PhosphoserineCombined sources | 1 | |
Modified residuei | 183 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 186 | PhosphoserineCombined sources | 1 | |
Modified residuei | 385 | PhosphoserineBy similarity | 1 | |
Modified residuei | 453 | PhosphoserineCombined sources | 1 | |
Modified residuei | 792 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1149 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9P260 |
jPOSTi | Q9P260 |
MassIVEi | Q9P260 |
MaxQBi | Q9P260 |
PaxDbi | Q9P260 |
PeptideAtlasi | Q9P260 |
PRIDEi | Q9P260 |
ProteomicsDBi | 83734 [Q9P260-1] 83735 [Q9P260-2] |
PTM databases
iPTMneti | Q9P260 |
PhosphoSitePlusi | Q9P260 |
Expressioni
Gene expression databases
Bgeei | ENSG00000134444 Expressed in 194 organ(s), highest expression level in corpus callosum |
ExpressionAtlasi | Q9P260 baseline and differential |
Genevisiblei | Q9P260 HS |
Organism-specific databases
HPAi | HPA039708 HPA040038 |
Interactioni
Protein-protein interaction databases
BioGridi | 121661, 23 interactors |
CORUMi | Q9P260 |
IntActi | Q9P260, 8 interactors |
STRINGi | 9606.ENSP00000381198 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 255 – 287 | LisHPROSITE-ProRule annotationAdd BLAST | 33 | |
Repeati | 601 – 639 | HEAT 1CuratedAdd BLAST | 39 | |
Repeati | 640 – 679 | HEAT 2CuratedAdd BLAST | 40 | |
Repeati | 1004 – 1042 | HEAT 3PROSITE-ProRule annotationAdd BLAST | 39 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 497 – 779 | Interaction with RAB11A and RAB11BBy similarityAdd BLAST | 283 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 197 – 231 | Sequence analysisAdd BLAST | 35 | |
Coiled coili | 359 – 397 | Sequence analysisAdd BLAST | 39 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG410IUDI Eukaryota ENOG410Y5MU LUCA |
GeneTreei | ENSGT00390000004385 |
HOGENOMi | HOG000067741 |
InParanoidi | Q9P260 |
OMAi | FQCEELA |
OrthoDBi | 73423at2759 |
PhylomeDBi | Q9P260 |
TreeFami | TF329740 |
Family and domain databases
Gene3Di | 1.25.10.10, 2 hits |
InterProi | View protein in InterPro IPR011989 ARM-like IPR016024 ARM-type_fold IPR021133 HEAT_type_2 IPR006594 LisH IPR040362 RELCH |
PANTHERi | PTHR32059 PTHR32059, 1 hit |
SMARTi | View protein in SMART SM00667 LisH, 1 hit |
SUPFAMi | SSF48371 SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50077 HEAT_REPEAT, 1 hit PS50896 LISH, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
920-920: Q → QIKEYLHIHNEISWEWDPSLNTKCVSYTHYTHSLK
991-1017: TLRGMSEALVDKRVAPALVTLSSDPEF → LVKGVNETLVAQRVVPALITLSSDPEI
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B785 | A0A075B785_HUMAN | RAB11-binding protein RELCH | RELCH | 1,017 | Annotation score: | ||
A0A2R8Y566 | A0A2R8Y566_HUMAN | RAB11-binding protein RELCH | RELCH | 1,216 | Annotation score: | ||
A0A075B768 | A0A075B768_HUMAN | RAB11-binding protein RELCH | RELCH | 255 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037660 | 929 | G → E in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs770815767Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030016 | 920 | Q → QIKEYLHIHNEISWEWDPSL NTKCVSYTHYTHSLK in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_030017 | 991 – 1017 | TLRGM…SDPEF → LVKGVNETLVAQRVVPALIT LSSDPEI in isoform 2. 1 PublicationAdd BLAST | 27 |
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 |
CCDSi | CCDS11979.2 [Q9P260-1] CCDS86675.1 [Q9P260-2] CCDS86676.1 [Q9P260-1] |
RefSeqi | NP_001333158.1, NM_001346229.1 [Q9P260-2] NP_065905.2, NM_020854.3 [Q9P260-1] |
Genome annotation databases
Ensembli | ENST00000256858; ENSP00000256858; ENSG00000134444 [Q9P260-2] ENST00000398130; ENSP00000381198; ENSG00000134444 [Q9P260-1] |
GeneIDi | 57614 |
KEGGi | hsa:57614 |
UCSCi | uc002lil.4 human [Q9P260-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS11979.2 [Q9P260-1] CCDS86675.1 [Q9P260-2] CCDS86676.1 [Q9P260-1] |
RefSeqi | NP_001333158.1, NM_001346229.1 [Q9P260-2] NP_065905.2, NM_020854.3 [Q9P260-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 121661, 23 interactors |
CORUMi | Q9P260 |
IntActi | Q9P260, 8 interactors |
STRINGi | 9606.ENSP00000381198 |
PTM databases
iPTMneti | Q9P260 |
PhosphoSitePlusi | Q9P260 |
Polymorphism and mutation databases
BioMutai | KIAA1468 |
DMDMi | 166218823 |
Proteomic databases
EPDi | Q9P260 |
jPOSTi | Q9P260 |
MassIVEi | Q9P260 |
MaxQBi | Q9P260 |
PaxDbi | Q9P260 |
PeptideAtlasi | Q9P260 |
PRIDEi | Q9P260 |
ProteomicsDBi | 83734 [Q9P260-1] 83735 [Q9P260-2] |
Genome annotation databases
Ensembli | ENST00000256858; ENSP00000256858; ENSG00000134444 [Q9P260-2] ENST00000398130; ENSP00000381198; ENSG00000134444 [Q9P260-1] |
GeneIDi | 57614 |
KEGGi | hsa:57614 |
UCSCi | uc002lil.4 human [Q9P260-1] |
Organism-specific databases
CTDi | 57614 |
DisGeNETi | 57614 |
GeneCardsi | RELCH |
HGNCi | HGNC:29289 RELCH |
HPAi | HPA039708 HPA040038 |
MIMi | 618001 gene |
neXtProti | NX_Q9P260 |
OpenTargetsi | ENSG00000134444 |
PharmGKBi | PA134865247 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IUDI Eukaryota ENOG410Y5MU LUCA |
GeneTreei | ENSGT00390000004385 |
HOGENOMi | HOG000067741 |
InParanoidi | Q9P260 |
OMAi | FQCEELA |
OrthoDBi | 73423at2759 |
PhylomeDBi | Q9P260 |
TreeFami | TF329740 |
Miscellaneous databases
ChiTaRSi | RELCH human |
GenomeRNAii | 57614 |
Pharosi | Q9P260 |
PROi | PR:Q9P260 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134444 Expressed in 194 organ(s), highest expression level in corpus callosum |
ExpressionAtlasi | Q9P260 baseline and differential |
Genevisiblei | Q9P260 HS |
Family and domain databases
Gene3Di | 1.25.10.10, 2 hits |
InterProi | View protein in InterPro IPR011989 ARM-like IPR016024 ARM-type_fold IPR021133 HEAT_type_2 IPR006594 LisH IPR040362 RELCH |
PANTHERi | PTHR32059 PTHR32059, 1 hit |
SMARTi | View protein in SMART SM00667 LisH, 1 hit |
SUPFAMi | SSF48371 SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50077 HEAT_REPEAT, 1 hit PS50896 LISH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RELCH_HUMAN | |
Accessioni | Q9P260Primary (citable) accession number: Q9P260 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 15, 2008 | |
Last modified: | October 16, 2019 | |
This is version 130 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot