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

Gene ID: 57614, updated on 28-Sep-2022

Summary

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

See RELCH in Genome Data Viewer
Location:
18q21.33
Exon count:
37
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (62187255..62310249)
110 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 ribose 5-phosphate isomerase A pseudogene 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class N Neighboring gene TNF receptor superfamily member 11a Neighboring gene ribosomal protein L17 pseudogene 44

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001346229.2NP_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_001346230.2NP_001333159.1  RAB11-binding protein RELCH isoform b

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
  3. NM_001346231.2NP_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
    A0A2R8Y566
    Related
    ENSP00000494314.1, ENST00000644646.2
  4. NM_001346233.2NP_001333162.1  RAB11-binding protein RELCH isoform d

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
  5. NM_001346234.2NP_001333163.1  RAB11-binding protein RELCH isoform e

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
  6. NM_001346235.2NP_001333164.1  RAB11-binding protein RELCH isoform f

    Status: VALIDATED

    Source sequence(s)
    AC027514, AC090396
    Conserved Domains (1) summary
    sd00044
    Location:425453
    HEAT; HEAT repeat [structural motif]
  7. NM_020854.4NP_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
    Q96ES0
    Related
    ENSP00000381198.2, ENST00000398130.6
    Conserved Domains (1) summary
    sd00044
    Location:519551
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011526112.3XP_011524414.1  RAB11-binding protein RELCH isoform X3

    Conserved Domains (1) summary
    sd00044
    Location:10121040
    HEAT; HEAT repeat [structural motif]
  2. XM_011526111.3XP_011524413.1  RAB11-binding protein RELCH isoform X1

    Conserved Domains (1) summary
    sd00044
    Location:648677
    HEAT; HEAT repeat [structural motif]
  3. XM_047437685.1XP_047293641.1  RAB11-binding protein RELCH isoform X2

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

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

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

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

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

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

    Related
    ENSP00000468816.1, ENST00000587725.5
  10. XM_047437692.1XP_047293648.1  RAB11-binding protein RELCH isoform X10

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

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

  13. XM_011526117.4XP_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:425453
    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)