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REELD1 reeler domain containing 1 [ Homo sapiens (human) ]

Gene ID: 345051, updated on 11-Apr-2024

Summary

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Official Symbol
REELD1provided by HGNC
Official Full Name
reeler domain containing 1provided by HGNC
Primary source
HGNC:HGNC:53638
See related
Ensembl:ENSG00000250673 AllianceGenome:HGNC:53638
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
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
4q31.22
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146214538..146232267)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (149530515..149548244)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (147135690..147153419)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377469 Neighboring gene long intergenic non-protein coding RNA 1095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15739 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147143236-147144435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147162227-147163143 Neighboring gene Sharpr-MPRA regulatory region 13307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21982 Neighboring gene solute carrier family 10 member 7 Neighboring gene uncharacterized LOC105377472 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:147250043-147251242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147271442-147272028 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147289228-147289729 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147302440-147303022 Neighboring gene NANOG hESC enhancer GRCh37_chr4:147320049-147320582 Neighboring gene microRNA 7849

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. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
reelin domain-containing protein 1

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.

mRNA and Protein(s)

  1. NM_001354631.1 → NP_001341560.1  reelin domain-containing protein 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC097372
    Consensus CDS
    CCDS87268.1
    UniProtKB/Swiss-Prot
    A0A1B0GV85
    Related
    ENSP00000510273.1, ENST00000623665.2
    Conserved Domains (1) summary
    pfam02014
    Location:33 → 155
    Reeler; Reeler domain

  2. NM_001371071.1 → NP_001358000.1  reelin domain-containing protein 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC097372
    Consensus CDS
    CCDS87268.1
    UniProtKB/Swiss-Prot
    A0A1B0GV85
    Related
    ENSP00000490412.2, ENST00000636502.1
    Conserved Domains (1) summary
    pfam02014
    Location:33 → 155
    Reeler; Reeler domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    146214538..146232267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    149530515..149548244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GV85.2 GenPept UniProtKB/Swiss-Prot:A0A1B0GV85

Gene LinkOut

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

Molecular Biology Databases
Research Materials