U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RAB44 RAB44, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 401258, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
RAB44provided by HGNC
Official Full Name
RAB44, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:21068
See related
Ensembl:ENSG00000255587 AllianceGenome:HGNC:21068
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
RASD3; RASL13; dJ431A14.3
Summary
Predicted to enable GTP binding activity; GTPase activity; and calcium ion binding activity. Predicted to be located in azurophil granule membrane; plasma membrane; and specific granule membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 15.4) and lung (RPKM 0.4) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
6p21.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36697826..36733184)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36518456..36553808)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36665603..36700961)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24436 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:36644192-36645391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36646785-36647372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24440 Neighboring gene promoter of CDKN1A antisense DNA damage activated RNA Neighboring gene leucine aminopeptidase 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17120 Neighboring gene cyclin dependent kinase inhibitor 1A Neighboring gene damage induced long noncoding RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36684729-36685230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36703037-36703538 Neighboring gene MPRA-validated peak5789 silencer Neighboring gene G protein-coupled receptor 166 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:36723139-36724338 Neighboring gene copine 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36727049-36728017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36733508-36734405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36736445-36736976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36739695-36740194 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:36744935-36745643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761234-36761900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761901-36762565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36773485-36773986 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36778800-36778968 Neighboring gene Sharpr-MPRA regulatory region 12831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17121

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Rab44 isoforms similarly promote lysosomal exocytosis, but exhibit differential localization in mast cells. Kadowaki T, et al. FEBS Open Bio, 2021 Apr. PMID 33641252, Free PMC Article
  2. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
  3. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rab44 isoforms similarly promote lysosomal exocytosis, but exhibit differential localization in mast cells.
    Title: Rab44 isoforms similarly promote lysosomal exocytosis, but exhibit differential localization in mast cells.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ43093

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in histamine secretion by mast cell IEA
Inferred from Electronic Annotation
more info
  
involved_in histamine secretion mediated by IgE immunoglobulin IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
ras-related protein Rab-44
Names
RAS-like, family 13
RASD family, member 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001257357.2 → NP_001244286.1  ras-related protein Rab-44

    Status: VALIDATED

    Source sequence(s)
    Z85996
    Consensus CDS
    CCDS75442.1
    UniProtKB/Swiss-Prot
    A0A087WXI0, Q7Z6P3
    Related
    ENSP00000481054.1, ENST00000612677.6
    Conserved Domains (5) summary
    cd00154
    Location:834 → 992
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    36697826..36733184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446435.2 → XP_024302203.1  ras-related protein Rab-44 isoform X1

    UniProtKB/Swiss-Prot
    A0A087WXI0, Q7Z6P3
    Conserved Domains (5) summary
    cd00154
    Location:834 → 992
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

  2. XM_024446439.2 → XP_024302207.1  ras-related protein Rab-44 isoform X4

    Conserved Domains (5) summary
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl21455
    Location:834 → 894
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

  3. XM_024446437.2 → XP_024302205.1  ras-related protein Rab-44 isoform X2

    Conserved Domains (5) summary
    cd00154
    Location:823 → 981
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl25732
    Location:191 → 328
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:512 → 820
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:315 → 636
    Atrophin-1; Atrophin-1 family

  4. XM_047418772.1 → XP_047274728.1  ras-related protein Rab-44 isoform X5

  5. XM_024446441.2 → XP_024302209.1  ras-related protein Rab-44 isoform X6

    Conserved Domains (5) summary
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl21455
    Location:831 → 867
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

  6. XM_024446438.2 → XP_024302206.1  ras-related protein Rab-44 isoform X3

    Conserved Domains (5) summary
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl21455
    Location:834 → 883
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

  7. XM_024446436.2 → XP_024302204.1  ras-related protein Rab-44 isoform X1

    UniProtKB/Swiss-Prot
    A0A087WXI0, Q7Z6P3
    Conserved Domains (5) summary
    cd00154
    Location:834 → 992
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13833
    Location:59 → 102
    EF-hand_8; EF-hand domain pair
    cl25732
    Location:191 → 337
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:523 → 831
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:326 → 647
    Atrophin-1; Atrophin-1 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36518456..36553808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355424.1 → XP_054211399.1  ras-related protein Rab-44 isoform X1

  2. XM_054355428.1 → XP_054211403.1  ras-related protein Rab-44 isoform X4

  3. XM_054355426.1 → XP_054211401.1  ras-related protein Rab-44 isoform X2

  4. XM_054355429.1 → XP_054211404.1  ras-related protein Rab-44 isoform X5

  5. XM_054355430.1 → XP_054211405.1  ras-related protein Rab-44 isoform X6

  6. XM_054355427.1 → XP_054211402.1  ras-related protein Rab-44 isoform X3

  7. XM_054355425.1 → XP_054211400.1  ras-related protein Rab-44 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207498.1: Suppressed sequence

    Description
    NM_207498.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6P3.4 GenPept UniProtKB/Swiss-Prot:Q7Z6P3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous