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

    Gene ID: 401258, updated on 27-Nov-2024

    Summary

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    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 and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within histamine secretion by mast cell and histamine secretion mediated by IgE immunoglobulin. Predicted to be located in azurophil granule membrane; plasma membrane; and specific granule membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 15.4) and lung (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB44 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36697826..36733184)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36518456..36553808)
    RS_2024_09 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

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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. 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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    ras-related protein Rab-44
    Names
    RAS-like, family 13
    RASD family, member 3

    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_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_2024_08

    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.

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