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Aliases for AVL9 Gene

Aliases for AVL9 Gene

  • AVL9 Cell Migration Associated 2 3 5
  • KIAA0241 2 3 4
  • AVL9 Homolog (S. Cerevisiase) 2 3
  • Late Secretory Pathway Protein AVL9 Homolog 3

External Ids for AVL9 Gene

Previous HGNC Symbols for AVL9 Gene

  • KIAA0241

Previous GeneCards Identifiers for AVL9 Gene

  • GC07P032502
  • GC07P032535
  • GC07P032412

Summaries for AVL9 Gene

GeneCards Summary for AVL9 Gene

AVL9 (AVL9 Cell Migration Associated) is a Protein Coding gene.

UniProtKB/Swiss-Prot for AVL9 Gene

  • Functions in cell migration.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVL9 Gene

Genomics for AVL9 Gene

Regulatory Elements for AVL9 Gene

Enhancers for AVL9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F032494 1.1 ENCODE 10.2 +0.5 518 3.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 FOS ZNRF2P1 LOC100130673 ENSG00000273014 LSM5 FKBP9 DPY19L1P2 AVL9 PIR53283
GH07F032505 1.2 Ensembl ENCODE 0.4 +11.6 11578 2.6 PKNOX1 ATF1 ARNT YY1 GATA2 FOS JUNB NCOA1 SMARCB1 KAT8 LOC100130673 DPY19L1P1 RP9 RP9P SLC25A5P5 AVL9 PIR53283
GH07F032500 1.1 Ensembl ENCODE 0.4 +6.5 6494 2.7 HDAC1 PKNOX1 YBX1 RFX5 CBX5 FOS CEBPB JUNB SMARCA4 PBX2 DPY19L1P1 LOC100130673 ZNRF2P1 AVL9 PIR53283
GH07F032515 1 Ensembl ENCODE 0.3 +21.1 21130 2.9 SOX13 ELF3 DRAP1 SAP130 RARA EED ETV6 HOMEZ GATAD2A SOX5 LOC100130673 RP9 AVL9 PIR53283
GH07F032498 0.2 Ensembl 0.8 +3.6 3575 0.4 RP9P AVL9 PIR53283
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AVL9 on UCSC Golden Path with GeneCards custom track

Promoters for AVL9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000309558 374 2801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 FOS

Genomic Location for AVL9 Gene

Chromosome:
7
Start:
32,495,426 bp from pter
End:
32,588,741 bp from pter
Size:
93,316 bases
Orientation:
Plus strand

Genomic View for AVL9 Gene

Genes around AVL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVL9 Gene

Proteins for AVL9 Gene

  • Protein details for AVL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBF6-AVL9_HUMAN
    Recommended name:
    Late secretory pathway protein AVL9 homolog
    Protein Accession:
    Q8NBF6
    Secondary Accessions:
    • Q92573

    Protein attributes for AVL9 Gene

    Size:
    648 amino acids
    Molecular mass:
    71947 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AVL9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVL9 Gene

Post-translational modifications for AVL9 Gene

  • Ubiquitination at Lys 465
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AVL9 Gene

Domains & Families for AVL9 Gene

Protein Domains for AVL9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AVL9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBF6

UniProtKB/Swiss-Prot:

AVL9_HUMAN :
  • Belongs to the AVL9 family.
Family:
  • Belongs to the AVL9 family.
genes like me logo Genes that share domains with AVL9: view

No data available for Gene Families for AVL9 Gene

Function for AVL9 Gene

Molecular function for AVL9 Gene

UniProtKB/Swiss-Prot Function:
Functions in cell migration.

Phenotypes for AVL9 Gene

genes like me logo Genes that share phenotypes with AVL9: view

Animal Model Products

miRNA for AVL9 Gene

miRTarBase miRNAs that target AVL9

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AVL9 Gene

Localization for AVL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVL9 Gene

Recycling endosome. Membrane; Single-pass membrane protein.

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 AVL9 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for AVL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0055037 recycling endosome IEA,IDA 22595670
genes like me logo Genes that share ontologies with AVL9: view

Pathways & Interactions for AVL9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AVL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IDA 22595670
genes like me logo Genes that share ontologies with AVL9: view

No data available for Pathways by source and SIGNOR curated interactions for AVL9 Gene

Transcripts for AVL9 Gene

Unigene Clusters for AVL9 Gene

AVL9 homolog (S. cerevisiase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AVL9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: - - -
SP3:

Relevant External Links for AVL9 Gene

GeneLoc Exon Structure for
AVL9
ECgene alternative splicing isoforms for
AVL9

Expression for AVL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AVL9 Gene

Protein differential expression in normal tissues from HIPED for AVL9 Gene

This gene is overexpressed in Brain (16.7), Frontal cortex (9.0), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AVL9 Gene



Protein tissue co-expression partners for AVL9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AVL9 Gene:

AVL9

SOURCE GeneReport for Unigene cluster for AVL9 Gene:

Hs.128056
genes like me logo Genes that share expression patterns with AVL9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AVL9 Gene

Orthologs for AVL9 Gene

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

Orthologs for AVL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AVL9 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia AVL9 34 35
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia AVL9 34 35
  • 90.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AVL9 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Avl9 34
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Avl9 34 16 35
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia AVL9 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves AVL9 34 35
  • 76.71 (n)
lizard
(Anolis carolinensis)
Reptilia AVL9 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia avl9 34
  • 71.98 (n)
Str.18105 34
zebrafish
(Danio rerio)
Actinopterygii avl9 34 35
  • 65.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000251 34
  • 51.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11178 34 35
  • 47.23 (n)
worm
(Caenorhabditis elegans)
Secernentea T26A5.6 34 35
  • 52.4 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVL9 35 37
  • 21 (a)
OneToOne
Species where no ortholog for AVL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for AVL9 Gene

ENSEMBL:
Gene Tree for AVL9 (if available)
TreeFam:
Gene Tree for AVL9 (if available)

Paralogs for AVL9 Gene

No data available for Paralogs for AVL9 Gene

Variants for AVL9 Gene

Sequence variations from dbSNP and Humsavar for AVL9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1004090 -- 32,557,538(+) gtttt(A/G)ttgtg intron-variant
rs10223965 -- 32,566,642(+) GGGAG(A/G)CCGAG intron-variant
rs10224077 -- 32,499,042(+) CCTGT(A/G)ATCCC intron-variant
rs10224085 -- 32,499,056(+) TACTT(A/G)GGAGG intron-variant
rs10225502 -- 32,494,338(+) CTTAG(A/C)CAATG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AVL9 Gene

Variant ID Type Subtype PubMed ID
nsv820638 CNV deletion 20802225
nsv436557 CNV deletion 17901297
nsv1148830 OTHER inversion 26484159
nsv1132045 CNV deletion 24896259
nsv1126093 CNV deletion 24896259
nsv1117458 CNV tandem duplication 24896259
nsv1068321 OTHER inversion 25765185
esv996889 CNV insertion 20482838
esv3612740 CNV loss 21293372
esv3541439 CNV deletion 23714750
esv3446438 CNV insertion 20981092
esv3430958 CNV insertion 20981092
esv3327615 CNV insertion 20981092
esv3153 CNV loss 18987735
esv29644 CNV gain 19812545
esv2676855 CNV deletion 23128226
dgv11270n54 CNV loss 21841781

Variation tolerance for AVL9 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AVL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVL9 Gene

Disorders for AVL9 Gene

Relevant External Links for AVL9

Genetic Association Database (GAD)
AVL9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AVL9

No disorders were found for AVL9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AVL9 Gene

Publications for AVL9 Gene

  1. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. (PMID: 22595670) Linford A. … Barr F.A. (Dev. Cell 2012) 2 3 4 64
  2. Avl9p, a member of a novel protein superfamily, functions in the late secretory pathway. (PMID: 17229886) Harsay E. … Schekman R. (Mol. Biol. Cell 2007) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 3 4 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for AVL9 Gene

Sources for AVL9 Gene

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