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RABGEF1P1 RABGEF1 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 493754, updated on 22-Oct-2024

Summary

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Official Symbol
RABGEF1P1provided by HGNC
Official Full Name
RABGEF1 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:55751
See related
Ensembl:ENSG00000291136 AllianceGenome:HGNC:55751
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS1-124K5.11
Expression
Ubiquitous expression in testis (RPKM 6.5), fat (RPKM 6.0) and 25 other tissues See more
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Genomic context

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See RABGEF1P1 in Genome Data Viewer
Location:
7q11.21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66530305..66592407, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67749968..67812058, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65995292..66057394, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65967883-65968382 Neighboring gene G protein subunit alpha 11 pseudogene Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65981742-65982054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65995393-65996257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66022503-66023318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66023319-66024134 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66024161-66024393 Neighboring gene suppressor APC domain containing 2 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66054213-66054714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18207 Neighboring gene Sharpr-MPRA regulatory region 7945 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66057822-66057993 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26085 Neighboring gene potassium channel tetramerization domain containing 7

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 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. Identification of psi3Tom20, a novel processed pseudogene of the human Tom20 gene, and complete characterization of psi1Tom20 and psi2Tom20. Hernández JM, et al. Mol Gen Genet, 1999 Sep. PMID 10517315
  2. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. Wineinger NE, et al. BMC Med Genomics, 2011 Jan 11. PMID 21223598, Free PMC Article
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (6) citations in PubMed

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Other Names

  • RAB guanine nucleotide exchange factor 1 pseudogene

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.

RNA

  1. NR_111972.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains two alternate internal exons, compared to variant 1.
    Source sequence(s)
    AA019315, BC103766, DA081109
    Related
    ENST00000735856.1

  2. NR_111973.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains multiple alternate exons in the 5' and 3' regions, compared to variant 1.
    Source sequence(s)
    AK296922, AK310548, AL046745, BC103766, BM687536, BU727812, DA081109
    Related
    ENST00000686269.2

  3. NR_111974.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript.
    Source sequence(s)
    AA019315, BC103766, DA081109
    Related
    ENST00000735850.1

  4. NR_111975.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1.
    Source sequence(s)
    AA019315, BC103766, DA081109
    Related
    ENST00000735851.1

  5. NR_111976.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1.
    Source sequence(s)
    AA019315, BC103766, DA081109
    Related
    ENST00000735853.1

  6. NR_111977.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains three alternate internal exons, compared to variant 1.
    Source sequence(s)
    AA019315, BC057835, BC103766, DA081109
    Related
    ENST00000735859.1

  7. NR_111978.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains two alternate internal exons, compared to variant 1.
    Source sequence(s)
    AA019315, BC080520, BC103766, DA081109
    Related
    ENST00000735857.1

  8. NR_111979.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) contains an alternate internal exon, compared to variant 1.
    Source sequence(s)
    AA019315, BC080520, BC103766, DA081109
    Related
    ENST00000735852.1

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    66530305..66592407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    67749968..67812058 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_002933.1: Suppressed sequence

    Description
    NR_002933.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version

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