U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RAPGEFL1 Rap guanine nucleotide exchange factor like 1 [ Homo sapiens (human) ]

Gene ID: 51195, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
RAPGEFL1provided by HGNC
Official Full Name
Rap guanine nucleotide exchange factor like 1provided by HGNC
Primary source
HGNC:HGNC:17428
See related
Ensembl:ENSG00000108352 AllianceGenome:HGNC:17428
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
Link-GEFII
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and nervous system development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 52.1), esophagus (RPKM 22.9) and 7 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See RAPGEFL1 in Genome Data Viewer
Location:
17q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40177010..40195650)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41040889..41059520)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38333263..38351902)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:38279065-38279703 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38296401-38297341 Neighboring gene MSL complex subunit 1 Neighboring gene CASC3 exon junction complex subunit Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38324317-38324876 Neighboring gene microRNA 6866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38332602-38333102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38333103-38333603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38333995-38334850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38334851-38335705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38350695-38351195 Neighboring gene microRNA 6867 Neighboring gene Sharpr-MPRA regulatory region 10842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:38375397-38376175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38380779-38381350 Neighboring gene WAS/WASL interacting protein family member 2 Neighboring gene RNY4 pseudogene 8 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:38437298-38438234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:38438235-38439169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38443891-38444698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38447656-38448242 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:38452145-38452660 Neighboring gene cell division cycle 6

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Screening aberrant methylation profile in esophageal squamous cell carcinoma for Kazakhs in Xinjiang area of China. Chen Y, et al. Mol Biol Rep, 2015 Feb. PMID 25304811
  2. Estimation of the fraction of cancer cells in a tumor DNA sample using DNA methylation. Takahashi T, et al. PLoS One, 2013. PMID 24312652, Free PMC Article
  3. Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction. Rebhun JF, et al. J Biol Chem, 2000 Nov 10. PMID 10934204
  4. Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. Brieger A, et al. Proteomics, 2010 Sep. PMID 20706999
  5. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC134798, MGC134799

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
rap guanine nucleotide exchange factor-like 1
Names
Link guanine nucleotide exchange factor II
Rap guanine nucleotide exchange factor (GEF)-like 1
link GEFII

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_054939.1 RefSeqGene

    Range
    5461..23641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303533.2 → NP_001290462.1  rap guanine nucleotide exchange factor-like 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AC068669, AK313492, BU620139, DB265550
    Consensus CDS
    CCDS77022.1
    UniProtKB/TrEMBL
    B7Z8Y5
    Related
    ENSP00000394530.2, ENST00000456989.6

  2. NM_001303534.3 → NP_001290463.1  rap guanine nucleotide exchange factor-like 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 3.
    Source sequence(s)
    AC068669, AK304160, BU620139
    Consensus CDS
    CCDS77023.1
    UniProtKB/TrEMBL
    B7Z8Y5, F5H2D5
    Related
    ENSP00000438631.1, ENST00000544503.5
    Conserved Domains (1) summary
    smart00147
    Location:263 → 501
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  3. NM_016339.6 → NP_057423.2  rap guanine nucleotide exchange factor-like 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC068669, BC029956, BC115375, BU620139
    Consensus CDS
    CCDS11363.2
    UniProtKB/Swiss-Prot
    Q9UHV5
    UniProtKB/TrEMBL
    A0A087WVW6
    Related
    ENSP00000479735.1, ENST00000620260.6
    Conserved Domains (1) summary
    smart00147
    Location:420 → 658
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40177010..40195650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436203.1 → XP_047292159.1  rap guanine nucleotide exchange factor-like 1 isoform X1

    UniProtKB/TrEMBL
    A0A087WVW6

  2. XM_047436205.1 → XP_047292161.1  rap guanine nucleotide exchange factor-like 1 isoform X4

    Related
    ENSP00000264644.5, ENST00000264644.10

  3. XM_047436204.1 → XP_047292160.1  rap guanine nucleotide exchange factor-like 1 isoform X2

  4. XM_006721938.4 → XP_006722001.1  rap guanine nucleotide exchange factor-like 1 isoform X3

    See identical proteins and their annotated locations for XP_006722001.1

    UniProtKB/TrEMBL
    B4DGK9
    Conserved Domains (1) summary
    smart00147
    Location:150 → 388
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41040889..41059520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316355.1 → XP_054172330.1  rap guanine nucleotide exchange factor-like 1 isoform X1

    UniProtKB/TrEMBL
    A0A087WVW6

  2. XM_054316358.1 → XP_054172333.1  rap guanine nucleotide exchange factor-like 1 isoform X4

  3. XM_054316356.1 → XP_054172331.1  rap guanine nucleotide exchange factor-like 1 isoform X2

  4. XM_054316357.1 → XP_054172332.1  rap guanine nucleotide exchange factor-like 1 isoform X3

    UniProtKB/TrEMBL
    B4DGK9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHV5.2 GenPept UniProtKB/Swiss-Prot:Q9UHV5

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous