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

Gene ID: 51195, updated on 11-Sep-2019

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
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
Expression
Biased expression in skin (RPKM 52.1), esophagus (RPKM 22.9) and 7 other tissues See more
Orthologs

Genomic context

See RAPGEFL1 in Genome Data Viewer
Location:
17q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40177010..40195656)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38334242..38351906)

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 WAS/WASL interacting protein family member 2 Neighboring gene RNY4 pseudogene 8 Neighboring gene cell division cycle 6

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
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane TAS
Traceable Author Statement
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)

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_001303533.1NP_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
    Conserved Domains (1) summary
    smart00147
    Location:269507
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  2. NM_001303534.2NP_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
    Related
    ENSP00000479735.1, ENST00000620260.5
    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 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    40177010..40195656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721935.3XP_006721998.1  rap guanine nucleotide exchange factor-like 1 isoform X1

    See identical proteins and their annotated locations for XP_006721998.1

    Conserved Domains (1) summary
    smart00147
    Location:251489
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  2. XM_006721937.4XP_006722000.1  rap guanine nucleotide exchange factor-like 1 isoform X2

    See identical proteins and their annotated locations for XP_006722000.1

    UniProtKB/Swiss-Prot
    Q9UHV5
    Related
    ENSP00000264644.5, ENST00000264644.10
    Conserved Domains (1) summary
    smart00147
    Location:214452
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  3. XM_024450785.1XP_024306553.1  rap guanine nucleotide exchange factor-like 1 isoform X1

    Conserved Domains (1) summary
    smart00147
    Location:251489
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  4. XM_006721938.3XP_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
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