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

Gene ID: 51195, updated on 13-Aug-2022

Summary

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
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Genomic context

See RAPGEFL1 in Genome Data Viewer
Location:
17q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40177010..40195650)
110 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 MSL complex subunit 1 Neighboring gene CASC3 exon junction complex subunit Neighboring gene microRNA 6866 Neighboring gene microRNA 6867 Neighboring gene Sharpr-MPRA regulatory region 10842 Neighboring gene WAS/WASL interacting protein family member 2 Neighboring gene RNY4 pseudogene 8

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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)

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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_054939.1 RefSeqGene

    Range
    5001..23647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303533.2NP_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/Swiss-Prot
    Q9UHV5
    Related
    ENSP00000394530.2, ENST00000456989.6
  2. NM_001303534.3NP_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
    F5H2D5
    Related
    ENSP00000438631.1, ENST00000544503.5
    Conserved Domains (1) summary
    smart00147
    Location:263501
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  3. NM_016339.6NP_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/TrEMBL
    A0A087WVW6
    Related
    ENSP00000479735.1, ENST00000620260.6
    Conserved Domains (1) summary
    smart00147
    Location:420658
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

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_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A087WVW6
  2. XM_047436205.1XP_047292161.1  rap guanine nucleotide exchange factor-like 1 isoform X4

    Related
    ENSP00000264644.5, ENST00000264644.10
  3. XM_047436204.1XP_047292160.1  rap guanine nucleotide exchange factor-like 1 isoform X2

  4. XM_006721938.4XP_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:150388
    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)