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RABGAP1L RAB GTPase activating protein 1 like [ Homo sapiens (human) ]

Gene ID: 9910, updated on 3-Jun-2018
Official Symbol
RABGAP1Lprovided by HGNC
Official Full Name
RAB GTPase activating protein 1 likeprovided by HGNC
Primary source
HGNC:HGNC:24663
See related
Ensembl:ENSG00000152061 MIM:609238; Vega:OTTHUMG00000034899
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
HHL; TBC1D18
Expression
Ubiquitous expression in heart (RPKM 7.5), brain (RPKM 5.9) and 25 other tissues See more
Orthologs
See RABGAP1L in Genome Data Viewer
Location:
1q25.1
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (174159414..174995308)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (174128552..174964445)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724601 Neighboring gene RNA, U7 small nuclear 78 pseudogene Neighboring gene forty-two-three domain containing 1 pseudogene Neighboring gene G protein-coupled receptor 52 Neighboring gene barrier to autointegration factor 1 pseudogene 4 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 4 Neighboring gene uncharacterized LOC101928696 Neighboring gene ribosomal protein S26 pseudogene 12 Neighboring gene uncharacterized LOC105371622 Neighboring gene RNA, U6 small nuclear 307, pseudogene Neighboring gene calcyclin binding protein

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ58037, FLJ79118, FLJ79254, DKFZp686E1450

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
rab GTPase-activating protein 1-like
Names
TBC1 domain family, member 18
expressed in hematopoietic cells, heart, liver (HLL)

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_001035230.2NP_001030307.1  rab GTPase-activating protein 1-like isoform B

    See identical proteins and their annotated locations for NP_001030307.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains novel exon structure at both its 5' and 3' ends, and thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 4. The encoded isoform (B) has distinct N- and C-termini, and is significantly shorter than isoform C. Both variants 2 and 3 encode isoform B.
    Source sequence(s)
    BC012094, BG193682, DB232940
    Consensus CDS
    CCDS41437.1
    UniProtKB/Swiss-Prot
    Q5R372
    Related
    ENSP00000432490.1, OTTHUMP00000235440, ENST00000486220.5, OTTHUMT00000084507
  2. NM_001243763.1NP_001230692.1  rab GTPase-activating protein 1-like isoform B

    See identical proteins and their annotated locations for NP_001230692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains novel exon structure at both its 5' and 3' ends, and thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 4. The encoded isoform (B) has distinct N- and C-termini, and is significantly shorter than isoform C. Both variants 2 and 3 encode isoform B.
    Source sequence(s)
    AL049701, BG193682, BQ277581
    Consensus CDS
    CCDS41437.1
    UniProtKB/Swiss-Prot
    Q5R372
    UniProtKB/TrEMBL
    Q9Y3L8
    Related
    ENSP00000434600.1, OTTHUMP00000235438, ENST00000478442.5, OTTHUMT00000084506
  3. NM_001243764.1NP_001230693.1  rab GTPase-activating protein 1-like isoform D

    See identical proteins and their annotated locations for NP_001230693.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks several 5' exons but includes a novel 5' exon, and thus differs in the 5' UTR and 5' coding region, compared to variant 4. The encoded isoform (D) has a distinct and shorter N-terminus, compared to isoform C.
    Source sequence(s)
    AA836500, AK316355, Z99127
    Consensus CDS
    CCDS55662.1
    UniProtKB/Swiss-Prot
    B7ZAP0
    Related
    ENSP00000356661.3, OTTHUMP00000235441, ENST00000367688.3, OTTHUMT00000084573
    Conserved Domains (1) summary
    COG1196
    Location:12222
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. NM_001243765.1NP_001230694.1  rab GTPase-activating protein 1-like isoform C

    See identical proteins and their annotated locations for NP_001230694.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes isoform C.
    Source sequence(s)
    AA836500, AB007940, AL161671, Z99127
    Consensus CDS
    CCDS58046.1
    UniProtKB/Swiss-Prot
    Q5R372
    Related
    ENSP00000420660.1, OTTHUMP00000032858, ENST00000489615.5, OTTHUMT00000084502
    Conserved Domains (1) summary
    TIGR02168
    Location:113322
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. NM_001330989.1NP_001317918.1  rab GTPase-activating protein 1-like isoform E

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (E) has a shorter and distinct N-terminus compared to isoform C.
    Source sequence(s)
    AL008735, AL161671, Z99127
    Consensus CDS
    CCDS81407.1
    UniProtKB/TrEMBL
    F5H8L0
  6. NM_014857.4NP_055672.3  rab GTPase-activating protein 1-like isoform A

    See identical proteins and their annotated locations for NP_055672.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) contains novel exon structure at both its 5' and 3' ends, and thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 4. The encoded isoform (A) has distinct N- and C-termini, and is significantly longer than isoform C.
    Source sequence(s)
    AB449904, AK095838, BC012094, BG193682, DB087378
    Consensus CDS
    CCDS1314.1
    UniProtKB/Swiss-Prot
    Q5R372
    UniProtKB/TrEMBL
    F1LJ00
    Related
    ENSP00000251507.4, OTTHUMP00000032853, ENST00000251507.8, OTTHUMT00000084497
    Conserved Domains (3) summary
    cd01211
    Location:129257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:340421
    DUF3694; Kinesin protein

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.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    174159414..174995308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245681.2XP_005245738.1  rab GTPase-activating protein 1-like isoform X2

    Conserved Domains (3) summary
    cd01211
    Location:92220
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:504707
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:303384
    DUF3694; Kinesin protein
  2. XM_005245680.1XP_005245737.1  rab GTPase-activating protein 1-like isoform X1

    See identical proteins and their annotated locations for XP_005245737.1

    Conserved Domains (3) summary
    cd01211
    Location:129257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:340421
    DUF3694; Kinesin protein
  3. XM_006711693.1XP_006711756.1  rab GTPase-activating protein 1-like isoform X3

    Conserved Domains (3) summary
    cd01211
    Location:129257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:340421
    DUF3694; Kinesin protein
  4. XM_017002994.2XP_016858483.1  rab GTPase-activating protein 1-like isoform X4

  5. XM_011510223.2XP_011508525.1  rab GTPase-activating protein 1-like isoform X1

    See identical proteins and their annotated locations for XP_011508525.1

    Conserved Domains (3) summary
    cd01211
    Location:129257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:340421
    DUF3694; Kinesin protein
  6. XM_017002999.2XP_016858488.1  rab GTPase-activating protein 1-like isoform X6

  7. XM_024451295.1XP_024307063.1  rab GTPase-activating protein 1-like isoform X7

  8. XM_017002996.1XP_016858485.1  rab GTPase-activating protein 1-like isoform X5

    UniProtKB/TrEMBL
    F5H8L0
    Related
    ENSP00000375916.2, ENST00000392064.6
  9. XM_017002997.1XP_016858486.1  rab GTPase-activating protein 1-like isoform X5

    UniProtKB/TrEMBL
    F5H8L0

RNA

  1. XR_001737553.1 RNA Sequence

  2. XR_922004.1 RNA Sequence

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