Aliases for RAB44 Gene

Aliases for RAB44 Gene

  • RAB44, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-44 3 4
  • RASD Family, Member 3 2 3
  • DJ431A14.3 2 3
  • RAS-Like, Family 13 3
  • RASL13 3
  • RASD3 3
  • RAB44 5

External Ids for RAB44 Gene

Previous HGNC Symbols for RAB44 Gene

  • RASD3
  • RASL13

Previous GeneCards Identifiers for RAB44 Gene

  • GC06U900627
  • GC06P036799
  • GC06P036665
  • GC06P036778
  • GC06P037311
  • GC06P036978
  • GC06P037015
  • GC06P042827
  • GC06P043172
  • GC06P043369
  • GC06P046059
  • GC06P037795
  • GC06P038418
  • GC06P039008
  • GC06P039596
  • GC06P040156
  • GC06P041235
  • GC06P041914
  • GC06P042556
  • GC06P047464
  • GC06P049522

Summaries for RAB44 Gene

GeneCards Summary for RAB44 Gene

RAB44 (RAB44, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB44 include Melorheostosis. Among its related pathways are Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activity. An important paralog of this gene is RASEF.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB44 Gene

Genomics for RAB44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB44 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB44

Genomic Locations for RAB44 Gene

Latest Assembly
chr6:36,697,808-36,733,184
(GRCh38/hg38)
Size:
35,377 bases
Orientation:
Plus strand

Previous Assembly
chr6:36,665,603-36,700,961
(GRCh37/hg19 by Entrez Gene)
Size:
35,359 bases
Orientation:
Plus strand

chr6:36,683,256-36,699,870
(GRCh37/hg19 by Ensembl)
Size:
16,615 bases
Orientation:
Plus strand

Genomic View for RAB44 Gene

Genes around RAB44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB44 Gene

Proteins for RAB44 Gene

  • Protein details for RAB44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6P3-RAB44_HUMAN
    Recommended name:
    Ras-related protein Rab-44
    Protein Accession:
    Q7Z6P3
    Secondary Accessions:
    • A0A087WXI0

    Protein attributes for RAB44 Gene

    Size:
    1021 amino acids
    Molecular mass:
    110850 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB44 Gene

Post-translational modifications for RAB44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB44 Gene

Domains & Families for RAB44 Gene

Gene Families for RAB44 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB44 Gene

Suggested Antigen Peptide Sequences for RAB44 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-44 (RAB44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z6P3

UniProtKB/Swiss-Prot:

RAB44_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB44: view

Function for RAB44 Gene

Phenotypes From GWAS Catalog for RAB44 Gene

Gene Ontology (GO) - Molecular Function for RAB44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB44: view

Phenotypes for RAB44 Gene

genes like me logo Genes that share phenotypes with RAB44: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB44

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB44 Gene

Localization for RAB44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB44 Gene

Cell membrane. Lipid-anchor. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB44 gene
Compartment Confidence
plasma membrane 4
lysosome 4
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAB44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0035577 azurophil granule membrane TAS --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with RAB44: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB44 Gene

Pathways & Interactions for RAB44 Gene

genes like me logo Genes that share pathways with RAB44: view

Gene Ontology (GO) - Biological Process for RAB44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with RAB44: view

No data available for SIGNOR curated interactions for RAB44 Gene

Drugs & Compounds for RAB44 Gene

No Compound Related Data Available

Transcripts for RAB44 Gene

mRNA/cDNA for RAB44 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB44

Alternative Splicing Database (ASD) splice patterns (SP) for RAB44 Gene

No ASD Table

Relevant External Links for RAB44 Gene

GeneLoc Exon Structure for
RAB44

Expression for RAB44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB44 Gene

mRNA differential expression in normal tissues according to GTEx for RAB44 Gene

This gene is overexpressed in Whole Blood (x17.1).

Protein differential expression in normal tissues from HIPED for RAB44 Gene

This gene is overexpressed in Lavage (33.0), Cerebrospinal fluid (12.6), Monocytes (12.2), and Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAB44 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB44

SOURCE GeneReport for Unigene cluster for RAB44 Gene:

Hs.485258
genes like me logo Genes that share expression patterns with RAB44: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB44 Gene

Orthologs for RAB44 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB44 29 30
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB44 29 30
  • 81.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB44 29 30
  • 80.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab44 29
  • 71.48 (n)
Mouse
(Mus musculus)
Mammalia Rab44 29 16 30
  • 68.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB44 30
  • 42 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB44 30
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB44 30
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB44 30
  • 53 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rab44 30
  • 9 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea 4R79.2 30
  • 26 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT52 30
  • 30 (a)
ManyToMany
YPT10 30
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 30 (a)
ManyToMany
Species where no ortholog for RAB44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RAB44 Gene

ENSEMBL:
Gene Tree for RAB44 (if available)
TreeFam:
Gene Tree for RAB44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB44: view image
Alliance of Genome Resources:
Additional Orthologs for RAB44

Paralogs for RAB44 Gene

genes like me logo Genes that share paralogs with RAB44: view

Variants for RAB44 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB44 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs894830820 Likely Benign: not provided 36,722,219(+) G/A
NM_001257357.2(RAB44):c.2085G>A (p.Glu695=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB44 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB44 Gene

Variant ID Type Subtype PubMed ID
dgv1001e201 CNV deletion 23290073
dgv1002e201 CNV deletion 23290073
dgv3301n106 CNV deletion 24896259
esv2731922 CNV deletion 23290073
esv2731927 CNV deletion 23290073
esv3343209 CNV duplication 20981092
esv3571013 CNV loss 25503493
esv3608711 CNV loss 21293372
nsv1015689 CNV gain 25217958
nsv1074923 CNV deletion 25765185
nsv1121346 CNV deletion 24896259
nsv524053 CNV loss 19592680
nsv819609 CNV loss 19587683

Additional Variant Information for RAB44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB44
Leiden Open Variation Database (LOVD)
RAB44

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RAB44 Gene

Disorders for RAB44 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB44 Gene - From: COP

Disorder Aliases PubMed IDs
melorheostosis
  • candle wax disease
- elite association - COSMIC cancer census association via MalaCards
Search RAB44 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB44

genes like me logo Genes that share disorders with RAB44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB44 Gene

Publications for RAB44 Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  2. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. (PMID: 31615875) Achuthankutty D … Mailand N (The Journal of cell biology 2019) 3
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

Products for RAB44 Gene

Sources for RAB44 Gene