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

Gene ID: 9910, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:24663
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
Summary
Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in Golgi apparatus; early endosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 7.5), brain (RPKM 5.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q25.1
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (174159520..174995308)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (173517499..174349063)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (174128658..174964445)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1560 Neighboring gene Sharpr-MPRA regulatory region 797 Neighboring gene RABGAP1L divergent transcript Neighboring gene RNA, U7 small nuclear 78 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1562 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174207528-174208157 Neighboring gene MPRA-validated peak467 silencer Neighboring gene forty-two-three domain containing 1 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174352088-174352652 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:174472688-174472877 Neighboring gene G protein-coupled receptor 52 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174564621-174565222 Neighboring gene Sharpr-MPRA regulatory region 10542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2124 Neighboring gene BANF1 pseudogene 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:174817888-174819087 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:174871033-174871534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2125 Neighboring gene RABGAP1L antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 12 Neighboring gene uncharacterized LOC105371622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:174968357-174968892 Neighboring gene RNA, U6 small nuclear 307, pseudogene Neighboring gene calcyclin binding protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease? de Yebra L, et al. Hum Mol Genet, 2004 Nov 1. PMID 15367492
  2. Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women. Kim JH, et al. Arthritis Rheum, 2013 Apr. PMID 23335107
  3. Gene trapping of two novel genes, Hzf and Hhl, expressed in hematopoietic cells. Hidaka M, et al. Mech Dev, 2000 Jan. PMID 10585558
  4. Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. Speek M. Mol Cell Biol, 2001 Mar. PMID 11238933, Free PMC Article
  5. Restriction factor screening identifies RABGAP1L-mediated disruption of endocytosis as a host antiviral defense. Fernbach S, et al. Cell Rep, 2022 Mar 22. PMID 35320721, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women.
    Title: Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
  4. KIAA0471 mRNA expression is reduced in Alzheimer patients.
    Title: Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ58037, FLJ79118, FLJ79254, DKFZp686E1450

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of protein localization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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.

mRNA and Protein(s)

  1. NM_001035230.3 → NP_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, DB232940
    Consensus CDS
    CCDS41437.1
    UniProtKB/Swiss-Prot
    Q5R372
    Related
    ENSP00000432490.1, ENST00000486220.5

  2. NM_001243763.2 → NP_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_001243764.2 → NP_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
    B7ZAA4, B7ZAP0
    UniProtKB/TrEMBL
    B4DQA5
    Related
    ENSP00000356661.3, ENST00000367688.3
    Conserved Domains (1) summary
    COG1196
    Location:12 → 222
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  4. NM_001243765.2 → NP_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:113 → 322
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  5. NM_001330989.2 → NP_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, Q6AI42
    Related
    ENSP00000375916.2, ENST00000392064.6

  6. NM_001366445.1 → NP_001353374.1  rab GTPase-activating protein 1-like isoform F

    Status: VALIDATED

    Source sequence(s)
    AL021069, AL022171, AL022400, AL031286
    Consensus CDS
    CCDS91110.1
    UniProtKB/TrEMBL
    A0A0C4DG54
    Related
    ENSP00000350027.6, ENST00000357444.10
    Conserved Domains (3) summary
    cd01211
    Location:92 → 220
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam12473
    Location:253 → 384
    DUF3694; Kinesin protein
    cl02495
    Location:498 → 532
    RabGAP-TBC; Rab-GTPase-TBC domain

  7. NM_001366446.1 → NP_001353375.1  rab GTPase-activating protein 1-like isoform G

    Status: VALIDATED

    Source sequence(s)
    AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
    Consensus CDS
    CCDS91111.1
    UniProtKB/TrEMBL
    A0A804HKD7
    Related
    ENSP00000507884.1, ENST00000681986.1
    Conserved Domains (4) summary
    cd01211
    Location:129 → 257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541 → 744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:290 → 421
    DUF3694; Kinesin protein
    cl26472
    Location:800 → 1018
    DUF3084; Protein of unknown function (DUF3084)

  8. NM_001366447.1 → NP_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:92 → 220
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:504 → 707
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:253 → 384
    DUF3694; Kinesin protein

  9. NM_001366448.1 → NP_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:129 → 257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541 → 744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:290 → 421
    DUF3694; Kinesin protein

  10. NM_001366449.1 → NP_001353378.1  rab GTPase-activating protein 1-like isoform J

    Status: VALIDATED

    Source sequence(s)
    BC062541, BU934486
    Consensus CDS
    CCDS91112.1
    UniProtKB/TrEMBL
    A0A0U1RRM5
    Related
    ENSP00000489605.1, ENST00000367690.5
    Conserved Domains (2) summary
    cl02495
    Location:182 → 221
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:3 → 68
    DUF3694; Kinesin protein

  11. NM_001366450.1 → NP_001353379.1  rab GTPase-activating protein 1-like isoform K

    Status: VALIDATED

    Source sequence(s)
    AB019493, Z99127
    Consensus CDS
    CCDS91115.1
    Related
    ENSP00000318603.5, ENST00000325589.9
    Conserved Domains (2) summary
    cl02495
    Location:1 → 51
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25732
    Location:101 → 310
    SMC_N; RecF/RecN/SMC N terminal domain

  12. NM_001366451.1 → NP_001353380.1  rab GTPase-activating protein 1-like isoform L

    Status: VALIDATED

    Source sequence(s)
    AB019490, AB019493, Z99127
    UniProtKB/TrEMBL
    B4DQA5, Q9Y6Y7
    Conserved Domains (1) summary
    cl25732
    Location:8 → 225
    SMC_N; RecF/RecN/SMC N terminal domain

  13. NM_001366452.1 → NP_001353381.1  rab GTPase-activating protein 1-like isoform M

    Status: VALIDATED

    Source sequence(s)
    AB019491, DB088774, Z99127
    Consensus CDS
    CCDS91113.1
    Related
    ENSP00000281844.5, ENST00000347255.6
    Conserved Domains (2) summary
    pfam00566
    Location:1 → 71
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25732
    Location:121 → 330
    SMC_N; RecF/RecN/SMC N terminal domain

  14. NM_001366453.1 → NP_001353382.1  rab GTPase-activating protein 1-like isoform N

    Status: VALIDATED

    Source sequence(s)
    AL136377, AL161671, Z99127
    Conserved Domains (1) summary
    pfam00566
    Location:2 → 70
    RabGAP-TBC; Rab-GTPase-TBC domain

  15. NM_001366454.1 → NP_001353383.1  rab GTPase-activating protein 1-like isoform O

    Status: VALIDATED

    Source sequence(s)
    AL008735, AL161671, Z99127

  16. NM_001366455.1 → NP_001353384.1  rab GTPase-activating protein 1-like isoform P

    Status: VALIDATED

    Source sequence(s)
    AL161671, Z99127

  17. NM_001366456.1 → NP_001353385.1  rab GTPase-activating protein 1-like isoform Q

    Status: VALIDATED

    Source sequence(s)
    AL161671, Z99127

  18. NM_001366457.1 → NP_001353386.1  rab GTPase-activating protein 1-like isoform R

    Status: VALIDATED

    Source sequence(s)
    AL008735, Z99127
    UniProtKB/TrEMBL
    B4DQA5, Q9UEL5
    Conserved Domains (1) summary
    cl25732
    Location:17 → 225
    SMC_N; RecF/RecN/SMC N terminal domain

  19. NM_014857.5 → NP_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, DB087378
    Consensus CDS
    CCDS1314.1
    UniProtKB/Swiss-Prot
    O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
    UniProtKB/TrEMBL
    F1LJ00
    Related
    ENSP00000251507.4, ENST00000251507.8
    Conserved Domains (3) summary
    cd01211
    Location:129 → 257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541 → 744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:340 → 421
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    174159520..174995308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510223.3 → XP_011508525.1  rab GTPase-activating protein 1-like isoform X1

    See identical proteins and their annotated locations for XP_011508525.1

    UniProtKB/TrEMBL
    A0A804HKD7
    Conserved Domains (4) summary
    cd01211
    Location:129 → 257
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:541 → 744
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:290 → 421
    DUF3694; Kinesin protein
    cl26472
    Location:800 → 1018
    DUF3084; Protein of unknown function (DUF3084)

  2. XM_047436028.1 → XP_047291984.1  rab GTPase-activating protein 1-like isoform X2

  3. XM_005245681.3 → XP_005245738.1  rab GTPase-activating protein 1-like isoform X2

    Conserved Domains (3) summary
    cd01211
    Location:92 → 220
    PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
    pfam00566
    Location:504 → 707
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam12473
    Location:303 → 384
    DUF3694; Kinesin protein

  4. XM_047436039.1 → XP_047291995.1  rab GTPase-activating protein 1-like isoform X3

  5. XM_047436050.1 → XP_047292006.1  rab GTPase-activating protein 1-like isoform X4

    UniProtKB/Swiss-Prot
    O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
    UniProtKB/TrEMBL
    F1LJ00

  6. XM_047436057.1 → XP_047292013.1  rab GTPase-activating protein 1-like isoform X6

  7. XM_047436056.1 → XP_047292012.1  rab GTPase-activating protein 1-like isoform X5

    Related
    ENSP00000356660.1, ENST00000367687.5

  8. XM_047436058.1 → XP_047292014.1  rab GTPase-activating protein 1-like isoform X7

  9. XM_047436059.1 → XP_047292015.1  rab GTPase-activating protein 1-like isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    173517499..174349063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339928.1 → XP_054195903.1  rab GTPase-activating protein 1-like isoform X1

    UniProtKB/TrEMBL
    A0A804HKD7

  2. XM_054339930.1 → XP_054195905.1  rab GTPase-activating protein 1-like isoform X2

  3. XM_054339929.1 → XP_054195904.1  rab GTPase-activating protein 1-like isoform X2

  4. XM_054339931.1 → XP_054195906.1  rab GTPase-activating protein 1-like isoform X3

  5. XM_054339932.1 → XP_054195907.1  rab GTPase-activating protein 1-like isoform X4

    UniProtKB/Swiss-Prot
    O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
    UniProtKB/TrEMBL
    F1LJ00

  6. XM_054339934.1 → XP_054195909.1  rab GTPase-activating protein 1-like isoform X6

  7. XM_054339933.1 → XP_054195908.1  rab GTPase-activating protein 1-like isoform X5

  8. XM_054339935.1 → XP_054195910.1  rab GTPase-activating protein 1-like isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B7ZAP0.1 GenPept UniProtKB/Swiss-Prot:B7ZAP0
Q5R372.1 GenPept UniProtKB/Swiss-Prot:Q5R372

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