Aliases for RELCH Gene

Aliases for RELCH Gene

  • RAB11 Binding And LisH Domain, Coiled-Coil And HEAT Repeat Containing 2 3 5
  • KIAA1468 2 3 4
  • RAB11-Binding Protein Containing LisH, Coiled-Coil, And HEAT Repeats 3 4
  • RAB11-Binding Protein RELCH 3 4
  • RAB11 Binding And LisH Domain, Coiled-Coil And HEAT Repeat-Containing 4
  • LisH Domain And HEAT Repeat-Containing Protein KIAA1468 4
  • EC 2.4.2.18 52
  • EC 5.3.1.24 52
  • HsT3308 3
  • HsT885 3

External Ids for RELCH Gene

Previous HGNC Symbols for RELCH Gene

  • KIAA1468

Summaries for RELCH Gene

GeneCards Summary for RELCH Gene

RELCH (RAB11 Binding And LisH Domain, Coiled-Coil And HEAT Repeat Containing) is a Protein Coding gene. Diseases associated with RELCH include Chronic Recurrent Multifocal Osteomyelitis and Colloid Adenoma.

UniProtKB/Swiss-Prot Summary for RELCH Gene

  • Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919).

Additional gene information for RELCH Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RELCH Gene

Genomics for RELCH Gene

GeneHancer (GH) Regulatory Elements for RELCH Gene

Promoters and enhancers for RELCH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RELCH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RELCH

Genomic Locations for RELCH Gene

Genomic Locations for RELCH Gene
chr18:62,187,244-62,310,217
(GRCh38/hg38)
Size:
122,974 bases
Orientation:
Plus strand
chr18:59,854,491-59,974,355
(GRCh37/hg19)
Size:
119,865 bases
Orientation:
Plus strand

Genomic View for RELCH Gene

Genes around RELCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RELCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RELCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RELCH Gene

Proteins for RELCH Gene

  • Protein details for RELCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P260-RELCH_HUMAN
    Recommended name:
    RAB11-binding protein RELCH
    Protein Accession:
    Q9P260

    Protein attributes for RELCH Gene

    Size:
    1216 amino acids
    Molecular mass:
    134630 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RELCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RELCH Gene

Selected DME Specific Peptides for RELCH Gene

Q9P260:
  • VGPTRVE
  • VDVASGVE

Post-translational modifications for RELCH Gene

  • Ubiquitination at Lys877
  • Modification sites at PhosphoSitePlus

Domains & Families for RELCH Gene

Gene Families for RELCH Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RELCH Gene

Blocks:
  • HEAT repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RELCH Gene

GenScript: Design optimal peptide antigens:
  • LisH domain and HEAT repeat-containing protein KIAA1468 (K1468_HUMAN)
  • KIAA1468, isoform CRA_a (Q96ES0_HUMAN)
genes like me logo Genes that share domains with RELCH: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RELCH Gene

Function for RELCH Gene

Molecular function for RELCH Gene

UniProtKB/Swiss-Prot Function:
Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919).

Enzyme Numbers (IUBMB) for RELCH Gene

Phenotypes From GWAS Catalog for RELCH Gene

genes like me logo Genes that share phenotypes with RELCH: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RELCH

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RELCH Gene

Localization for RELCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for RELCH Gene

Recycling endosome. Golgi apparatus, trans-Golgi network. 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). {ECO:0000250 UniProtKB:Q148V7, ECO:0000269 PubMed:29514919}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RELCH gene
Compartment Confidence
endosome 5
golgi apparatus 5
nucleus 3
cytosol 3
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RELCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA,IEA 29514919
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RELCH: view

Pathways & Interactions for RELCH Gene

PathCards logo

SuperPathways for RELCH Gene

No Data Available

Gene Ontology (GO) - Biological Process for RELCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0032367 intracellular cholesterol transport IDA,IEA 29514919
genes like me logo Genes that share ontologies with RELCH: view

No data available for Pathways by source and SIGNOR curated interactions for RELCH Gene

Drugs & Compounds for RELCH Gene

No Compound Related Data Available

Transcripts for RELCH Gene

mRNA/cDNA for RELCH Gene

7 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RELCH

Alternative Splicing Database (ASD) splice patterns (SP) for RELCH Gene

No ASD Table

Relevant External Links for RELCH Gene

GeneLoc Exon Structure for
RELCH

Expression for RELCH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RELCH

No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RELCH Gene

Orthologs for RELCH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RELCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1468 31 30
  • 99.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1468 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1468 31 30
  • 92.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1468 31 30
  • 90.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia 2310035C23Rik 31 30
  • 89.99 (n)
OneToOne
Relch 17
rat
(Rattus norvegicus)
Mammalia RGD1307235 30
  • 89.78 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1468 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1468 31 30
  • 81.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1468 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1468 30
  • 75.16 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66014 31 30
  • 69.62 (n)
OneToOne
zgc66014 30
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G16210 30
  • 45.19 (n)
rice
(Oryza sativa)
Liliopsida Os01g0514300 30
  • 45.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for RELCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RELCH Gene

ENSEMBL:
Gene Tree for RELCH (if available)
TreeFam:
Gene Tree for RELCH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RELCH: view image

Paralogs for RELCH Gene

Pseudogenes.org Pseudogenes for RELCH Gene

genes like me logo Genes that share paralogs with RELCH: view

No data available for Paralogs for RELCH Gene

Variants for RELCH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RELCH Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
744459 Likely Benign: not provided 62,227,333(+) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
744460 Benign: not provided 62,228,347(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs386352321 Uncertain Significance: not provided 62,252,665(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs770815767 A colorectal cancer sample p.Gly929Glu

Additional dbSNP identifiers (rs#s) for RELCH Gene

Structural Variations from Database of Genomic Variants (DGV) for RELCH Gene

Variant ID Type Subtype PubMed ID
esv2676512 CNV deletion 23128226
esv3642747 CNV loss 21293372
esv3642748 CNV loss 21293372
nsv1055910 CNV gain 25217958
nsv1055978 CNV loss 25217958
nsv1056589 CNV loss 25217958
nsv1142241 CNV tandem duplication 24896259
nsv577085 CNV loss 21841781
nsv819755 CNV loss 19587683

Variation tolerance for RELCH Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RELCH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RELCH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RELCH Gene

Disorders for RELCH Gene

MalaCards: The human disease database

(3) MalaCards diseases for RELCH Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chronic recurrent multifocal osteomyelitis
  • crmo
colloid adenoma
  • macrofollicular adenoma
fetal adenoma
  • microfollicular adenoma
- elite association - COSMIC cancer census association via MalaCards
Search RELCH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RELCH

genes like me logo Genes that share disorders with RELCH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RELCH Gene

Publications for RELCH Gene

  1. The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution. (PMID: 29514919) Sobajima T … Harada A (The Journal of cell biology 2018) 2 3 4 54
  2. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. (PMID: 11973628) Golla A … Meindl A (European journal of human genetics : EJHG 2002) 2 3 54
  3. 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. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for RELCH Gene

Sources for RELCH Gene