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RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing [ Homo sapiens (human) ]

Gene ID: 57614, updated on 3-Apr-2024

Summary

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Official Symbol
RELCHprovided by HGNC
Official Full Name
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containingprovided by HGNC
Primary source
HGNC:HGNC:29289
See related
Ensembl:ENSG00000134444 MIM:618001; AllianceGenome:HGNC:29289
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HsT885; HsT3308; KIAA1468
Summary
Involved in intracellular cholesterol transport. Located in recycling endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 6.0), esophagus (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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See RELCH in Genome Data Viewer
Location:
18q21.33
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (62187255..62310249)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (62390065..62513114)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (59854488..59977482)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48468 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48472 Neighboring gene ribose 5-phosphate isomerase A pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:59667958-59668797 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:59668798-59669636 Neighboring gene Sharpr-MPRA regulatory region 1275 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class N Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48726/48728 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48738 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48746 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:59853791-59854003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9502 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9503 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48897 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:59957531-59957709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9505 Neighboring gene TNF receptor superfamily member 11a Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:60034196-60034732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9506 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:60041621-60042250 Neighboring gene ribosomal protein L17 pseudogene 44

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Golla A, et al. Eur J Hum Genet, 2002 Mar. PMID 11973628
  2. The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution. Sobajima T, et al. J Cell Biol, 2018 May 7. PMID 29514919, Free PMC Article
  3. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
  4. Endofin is required for HD-PTP and ESCRT-0 interdependent endosomal sorting of ubiquitinated transmembrane cargoes. Kazan JM, et al. iScience, 2021 Nov 19. PMID 34761192, Free PMC Article
  5. Reactive-site-centric chemoproteomics identifies a distinct class of deubiquitinase enzymes. Hewings DS, et al. Nat Commun, 2018 Mar 21. PMID 29563501, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data suggest that RELCH promotes nonvesicular cholesterol transport from recycling endosomes to the trans-Golgi network through membrane tethering.
    Title: The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33841

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in intracellular cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular cholesterol transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
RAB11-binding protein RELCH
Names
RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051664.2 RefSeqGene

    Range
    5002..127996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346229.2 → NP_001333158.1  RAB11-binding protein RELCH isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC027514, AC090396
    Consensus CDS
    CCDS86675.1
    UniProtKB/Swiss-Prot
    Q9P260
    Related
    ENSP00000256858.5, ENST00000256858.10

  2. NM_001346230.2 → NP_001333159.1  RAB11-binding protein RELCH isoform b

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
    UniProtKB/TrEMBL
    A0A075B785

  3. NM_001346231.2 → NP_001333160.1  RAB11-binding protein RELCH isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
    Source sequence(s)
    AC027514, AC090396
    Consensus CDS
    CCDS86676.1
    UniProtKB/TrEMBL
    A0A075B785, A0A2R8Y566
    Related
    ENSP00000494314.1, ENST00000644646.2

  4. NM_001346233.2 → NP_001333162.1  RAB11-binding protein RELCH isoform d

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
    UniProtKB/TrEMBL
    A0A075B785

  5. NM_001346234.2 → NP_001333163.1  RAB11-binding protein RELCH isoform e

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
    UniProtKB/TrEMBL
    A0A075B785

  6. NM_001346235.2 → NP_001333164.1  RAB11-binding protein RELCH isoform f

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
    Conserved Domains (1) summary
    sd00044
    Location:425 → 453
    HEAT; HEAT repeat [structural motif]

  7. NM_020854.4 → NP_065905.2  RAB11-binding protein RELCH isoform c

    See identical proteins and their annotated locations for NP_065905.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AA632129, AC027514, AC090396, AK091160, BC011992, BX648481
    Consensus CDS
    CCDS11979.2
    UniProtKB/Swiss-Prot
    Q9P260
    UniProtKB/TrEMBL
    A0A075B785
    Related
    ENSP00000381198.2, ENST00000398130.6
    Conserved Domains (1) summary
    sd00044
    Location:519 → 551
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_144403.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  2. NR_144404.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  3. NR_144405.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  4. NR_144406.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  5. NR_144407.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  6. NR_144408.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  7. NR_144409.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  8. NR_144410.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

  9. NR_144412.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    62187255..62310249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526112.3 → XP_011524414.1  RAB11-binding protein RELCH isoform X3

    UniProtKB/TrEMBL
    A0A075B785
    Conserved Domains (1) summary
    sd00044
    Location:1012 → 1040
    HEAT; HEAT repeat [structural motif]

  2. XM_011526111.3 → XP_011524413.1  RAB11-binding protein RELCH isoform X1

    UniProtKB/TrEMBL
    A0A075B785
    Conserved Domains (1) summary
    sd00044
    Location:648 → 677
    HEAT; HEAT repeat [structural motif]

  3. XM_047437685.1 → XP_047293641.1  RAB11-binding protein RELCH isoform X2

  4. XM_047437686.1 → XP_047293642.1  RAB11-binding protein RELCH isoform X4

  5. XM_047437688.1 → XP_047293644.1  RAB11-binding protein RELCH isoform X6

  6. XM_047437689.1 → XP_047293645.1  RAB11-binding protein RELCH isoform X7

  7. XM_047437687.1 → XP_047293643.1  RAB11-binding protein RELCH isoform X5

  8. XM_047437690.1 → XP_047293646.1  RAB11-binding protein RELCH isoform X8

  9. XM_047437691.1 → XP_047293647.1  RAB11-binding protein RELCH isoform X9

    Related
    ENSP00000468816.1, ENST00000587725.5

  10. XM_047437692.1 → XP_047293648.1  RAB11-binding protein RELCH isoform X10

  11. XM_047437693.1 → XP_047293649.1  RAB11-binding protein RELCH isoform X11

  12. XM_047437694.1 → XP_047293650.1  RAB11-binding protein RELCH isoform X12

  13. XM_011526117.4 → XP_011524419.1  RAB11-binding protein RELCH isoform X12

    See identical proteins and their annotated locations for XP_011524419.1

    Conserved Domains (1) summary
    sd00044
    Location:425 → 453
    HEAT; HEAT repeat [structural motif]

RNA

  1. XR_935239.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    62390065..62513114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318889.1 → XP_054174864.1  RAB11-binding protein RELCH isoform X3

  2. XM_054318887.1 → XP_054174862.1  RAB11-binding protein RELCH isoform X1

  3. XM_054318888.1 → XP_054174863.1  RAB11-binding protein RELCH isoform X2

  4. XM_054318890.1 → XP_054174865.1  RAB11-binding protein RELCH isoform X4

  5. XM_054318892.1 → XP_054174867.1  RAB11-binding protein RELCH isoform X6

  6. XM_054318893.1 → XP_054174868.1  RAB11-binding protein RELCH isoform X7

  7. XM_054318891.1 → XP_054174866.1  RAB11-binding protein RELCH isoform X5

  8. XM_054318894.1 → XP_054174869.1  RAB11-binding protein RELCH isoform X8

  9. XM_054318895.1 → XP_054174870.1  RAB11-binding protein RELCH isoform X9

  10. XM_054318896.1 → XP_054174871.1  RAB11-binding protein RELCH isoform X10

  11. XM_054318897.1 → XP_054174872.1  RAB11-binding protein RELCH isoform X11

  12. XM_054318899.1 → XP_054174874.1  RAB11-binding protein RELCH isoform X12

  13. XM_054318898.1 → XP_054174873.1  RAB11-binding protein RELCH isoform X12

RNA

  1. XR_008485019.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P260.2 GenPept UniProtKB/Swiss-Prot:Q9P260

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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