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

    Gene ID: 57614, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 6.0), esophagus (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (62187255..62310249)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (62390065..62513114)
    RS_2024_09 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 (35) 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)

    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_2024_08

    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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