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

Gene ID: 9910, updated on 21-Dec-2019

Summary

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
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

Genomic context

See RABGAP1L in Genome Data Viewer
Location:
1q25.1
Exon count:
40
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 RABGAP1L divergent transcript 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 Sharpr-MPRA regulatory region 10542 Neighboring gene BANF1 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

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 

General protein information

Preferred Names
rab GTPase-activating protein 1-like
Names
TBC1 domain family, member 18
expressed in hematopoietic cells, heart, liver (HLL)

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.

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

    Source sequence(s)
    BC012094, BG193682, DB232940
    Consensus CDS
    CCDS41437.1
    UniProtKB/Swiss-Prot
    Q5R372
    Related
    ENSP00000432490.1, ENST00000486220.5
  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

    Source sequence(s)
    AL049701, BG193682, BQ277581
    Consensus CDS
    CCDS41437.1
    UniProtKB/Swiss-Prot
    Q5R372
    UniProtKB/TrEMBL
    Q9Y3L8
    Related
    ENSP00000434600.1, ENST00000478442.5
  3. NM_001243764.2NP_001230693.1  rab GTPase-activating protein 1-like isoform D

    See identical proteins and their annotated locations for NP_001230693.1

    Status: VALIDATED

    Source sequence(s)
    AA836500, AK316355, Z99127
    Consensus CDS
    CCDS55662.1
    UniProtKB/Swiss-Prot
    B7ZAP0
    Related
    ENSP00000356661.3, ENST00000367688.3
    Conserved Domains (1) summary
    COG1196
    Location:12222
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. NM_001243765.2NP_001230694.1  rab GTPase-activating protein 1-like isoform C

    See identical proteins and their annotated locations for NP_001230694.1

    Status: VALIDATED

    Source sequence(s)
    AA836500, AB007940, AL161671, Z99127
    Consensus CDS
    CCDS58046.1
    UniProtKB/Swiss-Prot
    Q5R372
    Related
    ENSP00000420660.1, ENST00000489615.5
    Conserved Domains (1) summary
    TIGR02168
    Location:113322
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. NM_001330989.2NP_001317918.1  rab GTPase-activating protein 1-like isoform E

    Status: VALIDATED

    Source sequence(s)
    AL008735, AL161671, Z99127
    Consensus CDS
    CCDS81407.1
    UniProtKB/TrEMBL
    F5H8L0
  6. NM_001366445.1NP_001353374.1  rab GTPase-activating protein 1-like isoform F

    Status: VALIDATED

    Source sequence(s)
    AL021069, AL022171, AL022400, AL031286
    Related
    ENSP00000350027.6, ENST00000357444.10
    Conserved Domains (3) summary
    cd01211
    Location:92220
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam12473
    Location:253384
    DUF3694; Kinesin protein
    cl02495
    Location:498532
    RabGAP-TBC; Rab-GTPase-TBC domain
  7. NM_001366446.1NP_001353375.1  rab GTPase-activating protein 1-like isoform G

    Status: VALIDATED

    Source sequence(s)
    AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
    Conserved Domains (4) 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:290421
    DUF3694; Kinesin protein
    cl26472
    Location:8001018
    DUF3084; Protein of unknown function (DUF3084)
  8. NM_001366447.1NP_001353376.1  rab GTPase-activating protein 1-like isoform H

    Status: VALIDATED

    Source sequence(s)
    AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
    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:253384
    DUF3694; Kinesin protein
  9. NM_001366448.1NP_001353377.1  rab GTPase-activating protein 1-like isoform I

    Status: VALIDATED

    Source sequence(s)
    AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
    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:290421
    DUF3694; Kinesin protein
  10. NM_001366449.1NP_001353378.1  rab GTPase-activating protein 1-like isoform J

    Status: VALIDATED

    Source sequence(s)
    BC062541, BU934486
    Related
    ENSP00000489605.1, ENST00000367690.5
    Conserved Domains (2) summary
    pfam12473
    Location:368
    DUF3694; Kinesin protein
    cl02495
    Location:182221
    RabGAP-TBC; Rab-GTPase-TBC domain
  11. NM_001366450.1NP_001353379.1  rab GTPase-activating protein 1-like isoform K

    Status: VALIDATED

    Source sequence(s)
    AB019493, Z99127
    Related
    ENSP00000318603.5, ENST00000325589.9
    Conserved Domains (2) summary
    cl02495
    Location:151
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25732
    Location:101310
    SMC_N; RecF/RecN/SMC N terminal domain
  12. NM_001366451.1NP_001353380.1  rab GTPase-activating protein 1-like isoform L

    Status: VALIDATED

    Source sequence(s)
    AB019490, AB019493, Z99127
    Conserved Domains (1) summary
    cl25732
    Location:8225
    SMC_N; RecF/RecN/SMC N terminal domain
  13. NM_001366452.1NP_001353381.1  rab GTPase-activating protein 1-like isoform M

    Status: VALIDATED

    Source sequence(s)
    AB019491, DB088774, Z99127
    Related
    ENSP00000281844.5, ENST00000347255.6
    Conserved Domains (2) summary
    pfam00566
    Location:171
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25732
    Location:121330
    SMC_N; RecF/RecN/SMC N terminal domain
  14. NM_001366453.1NP_001353382.1  rab GTPase-activating protein 1-like isoform N

    Status: VALIDATED

    Source sequence(s)
    AL136377, AL161671, Z99127
    Conserved Domains (1) summary
    pfam00566
    Location:270
    RabGAP-TBC; Rab-GTPase-TBC domain
  15. NM_001366454.1NP_001353383.1  rab GTPase-activating protein 1-like isoform O

    Status: VALIDATED

    Source sequence(s)
    AL008735, AL161671, Z99127
  16. NM_001366455.1NP_001353384.1  rab GTPase-activating protein 1-like isoform P

    Status: VALIDATED

    Source sequence(s)
    AL161671, Z99127
  17. NM_001366456.1NP_001353385.1  rab GTPase-activating protein 1-like isoform Q

    Status: VALIDATED

    Source sequence(s)
    AL161671, Z99127
  18. NM_001366457.1NP_001353386.1  rab GTPase-activating protein 1-like isoform R

    Status: VALIDATED

    Source sequence(s)
    AL008735, Z99127
    Conserved Domains (1) summary
    cl25732
    Location:17225
    SMC_N; RecF/RecN/SMC N terminal domain
  19. 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

    Source sequence(s)
    AB449904, AK095838, BC012094, BG193682, DB087378
    Consensus CDS
    CCDS1314.1
    UniProtKB/Swiss-Prot
    Q5R372
    UniProtKB/TrEMBL
    F1LJ00
    Related
    ENSP00000251507.4, ENST00000251507.8
    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

RNA

  1. NR_158981.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL022400, AL031286
    Related
    ENST00000635248.1
  2. NR_158982.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL008735, AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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_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 (4) 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:290421
    DUF3694; Kinesin protein
    cl26472
    Location:8001018
    DUF3084; Protein of unknown function (DUF3084)
  3. XM_024451295.1XP_024307063.1  rab GTPase-activating protein 1-like isoform X7

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

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

    UniProtKB/TrEMBL
    F5H8L0

RNA

  1. XR_922004.1 RNA Sequence

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