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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AVL9 Gene

protein-coding   GIFtS: 49
GCID: GC07P032535

AVL9 Homolog (S. Cerevisiase)

(Previous name: KIAA0241)
(Previous symbol: KIAA0241)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
AVL9 Homolog (S. Cerevisiase)1 2
KIAA02411 2 3 5
Late Secretory Pathway Protein AVL9 Homolog2

External Ids:    HGNC: 289941   Entrez Gene: 230802   Ensembl: ENSG000001057787   OMIM: 6129275   UniProtKB: Q8NBF63   

Export aliases for AVL9 gene to outside databases

Previous GC identifers: GC07P032502 GC07P032412


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for AVL9 Gene: 
AVL9 (AVL9 homolog (S. cerevisiase)) is a protein-coding gene. Diseases associated with AVL9 include mitral valve prolapse.

UniProtKB/Swiss-Prot: AVL9_HUMAN, Q8NBF6
Function: Functions in cell migration




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AVL9 gene promoter:
         AML1a   FOXF2   POU3F2 (N-Oct-5b)   NRF-2   Nkx6-1   HSF2   FOXJ2 (long isoform)   FOXO1a   FOXJ2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AVL9 promoter sequence
   Search SABiosciences Chromatin IP Primers for AVL9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVL9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14.3

AVL9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AVL9 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P032535:  view genomic region     (about GC identifiers)

Start:
32,535,038 bp from pter      End:
33,078,516 bp from pter
Size:
543,479 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 32,580,373-32,668,300     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AVL9_HUMAN, Q8NBF6 (See protein sequence)
Recommended Name: Late secretory pathway protein AVL9 homolog  
Size: 648 amino acids; 71947 Da
Subcellular location: Recycling endosome. Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q92573
Alternative splicing: 2 isoforms:  Q8NBF6-1   Q8NBF6-2   

Explore the universe of human proteins at neXtProt for AVL9: NX_Q8NBF6

Explore proteomics data for AVL9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NBF6

  • AVL9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AVL9 Protein Expression
    REFSEQ proteins: NP_055875.1  
    ENSEMBL proteins: 
     ENSP00000315568   ENSP00000387011   ENSP00000395134   ENSP00000385242  

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    Cloud-Clone Corp. Proteins for AVL9 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0055037recycling endosome IDA--

    AVL9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR018307 Secretory_pathway_prot_Avl9

    Graphical View of Domain Structure for InterPro Entry Q8NBF6

    ProtoNet protein and cluster: Q8NBF6

    UniProtKB/Swiss-Prot: AVL9_HUMAN, Q8NBF6
    Similarity: Belongs to the AVL9 family


    AVL9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AVL9_HUMAN, Q8NBF6
    Function: Functions in cell migration

    Animal Models:

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    SwitchGear 3'UTR luciferase reporter plasmidAVL9 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AVL9

    5/27 Interacting proteins for AVL9 (Q8NBF63) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG9Q9H6U83I2D: score=1 
    AP1G1O437473I2D: score=1 
    AP2B1P630103I2D: score=1 
    ARFRP1Q137953I2D: score=1 
    ATG7O953523I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016477cell migration IDA--

    AVL9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AVL9

    Search CenterWatch for drugs/clinical trials and news about AVL9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AVL9 gene: 
    NM_015060.1  

    Unigene Cluster for AVL9:

    AVL9 homolog (S. cerevisiase)
    Hs.128056  [show with all ESTs]
    Unigene Representative Sequence: D87682
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485228 ENST00000318709(uc003tcv.1) ENST00000459629 ENST00000409301
    ENST00000446718(uc010kwj.1) ENST00000470500 ENST00000467779 ENST00000497020
    ENST00000404479(uc011kai.2)
    miRNA
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    hsa-miR-30c hsa-miR-3155 hsa-miR-30d hsa-miR-484 hsa-miR-30a hsa-miR-30b hsa-miR-24 hsa-miR-3155b
    SwitchGear 3'UTR luciferase reporter plasmidAVL9 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK090619.1 BC027724.2 D87682.1 

    11 DOTS entries:

    DT.100745268  DT.86821223  DT.95162278  DT.100752070  DT.417788  DT.99936092  DT.101963299  DT.121048878 
    DT.121048895  DT.40207006  DT.95162282 

    24/192 AceView cDNA sequences (see all 192):

    BX507830 AA360402 AI859702 CR596746 BM971362 BQ723071 AI417726 AA261815 
    CK429533 AA400288 BM984271 BM828293 BM713170 BM675038 H88848 AX746537 
    BU618716 BF510156 BF447245 AI651366 AA489476 BC027724 AW297978 AA342651 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AVL9    About this scheme

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


    ECgene alternative splicing isoforms for AVL9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AVL9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGATCAG
    AVL9 Expression
    About this image


    See AVL9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AVL9

    SOURCE GeneReport for Unigene cluster: Hs.128056
        SABiosciences Custom PCR Arrays for AVL9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVL9

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for AVL9 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Avl91 , 5 AVL9 homolog (S. cerevisiase)1, 5 89.35(n)1
    91.51(a)1
      6 (27.72 cM)5
    789371  NM_030235.11  NP_084511.11 
     567149275 
    chicken
    (Gallus gallus)
    Aves AVL91 AVL9 homolog (S. cerevisiase) 76.59(n)
    81.82(a)
      420750  XM_418848.3  XP_418848.2 
    lizard
    (Anolis carolinensis)
    Reptilia AVL96
    Uncharacterized protein
    80(a)
    1 ↔ 1
    6(45232688-45268247)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.181052 Transcribed sequence with weak similarity to protein more 78.46(n)    AL961880.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1536091 zgc:153609 65.53(n)
    67.4(a)
      751682  NM_001045565.1  NP_001039030.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111781 CG11178 46.99(n)
    39.93(a)
      32315  NM_132673.2  NP_572901.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T26A5.61 Protein T26A5.6 52.01(n)
    43.3(a)
      175917  NM_066015.3  NP_498416.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AVL9(YLR114C)4 Conserved protein involved in exocytic transport from more   --   12(377238-374944) 850805  NP_013215.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2134 SNPs in AVL9 are shown (see all 2134)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904094701,2
    --32411009(+) GGCTGC/GTCTCC 1 -- us2k10--------
    rs9214091,2
    C,F,A,H--32411200(+) cccggG/Attcaa 1 -- us2k18Minor allele frequency- A:0.40NA WA CSA 15
    rs607962911,2
    C,F--32411230(+) CGTCCG/AAGTAG 1 -- us2k13Minor allele frequency- A:0.23NA EA 242
    rs69487081,2
    C,F,H--32411588(+) TTTCTG/TAGCCA 1 -- us2k1 tfbs312Minor allele frequency- T:0.01NA WA CSA EA 375
    rs102255021,2
    C,F,A,H--32411591(+) CTTAGC/ACAATG 1 -- us2k1 tfbs310Minor allele frequency- A:0.48NA WA EA 372
    rs762054321,2
    --32411619(+) CAGAAA/CAGAAA 1 -- us2k10--------
    rs69666561,2
    C,F--32411635(+) AGCAGC/TATCTT 1 -- us2k13Minor allele frequency- T:0.13CSA WA 120
    rs1400687621,2
    C--32411768(+) AAGACC/TAGAAG 1 -- us2k10--------
    rs102413031,2
    C,F,A,H--32411844(+) TTATTT/GGAAAA 1 -- us2k118Minor allele frequency- G:0.14NS EA NA WA 2336
    rs77997461,2
    C,F,H--32411907(+) ATGAGA/GTTCAC 1 -- us2k110Minor allele frequency- G:0.02NS EA NA 1266

    HapMap Linkage Disequilibrium report for AVL9 (32535038 - 32785038 bp, first 250kb of AVL9)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AVL9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3153CNV Deletion18987735
    nsv820638CNV Deletion20802225
    nsv436557CNV Deletion17901297
    esv2676855CNV Deletion23128226
    esv996889CNV Insertion20482838
    nsv887923CNV Loss21882294
    esv29644CNV Gain19812545
    nsv887922CNV Gain21882294
    nsv887921CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612927    OMIM disorders: --

    2 diseases for AVL9:    About MalaCards
    mitral valve prolapse    

    1 disease from the University of Copenhagen DISEASES database for AVL9:
    Mitral valve prolapse

    AVL9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AVL9

    Export disorders for AVL9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AVL9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AVL9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab14 and its exchange factor FAM116 link endocytic re cycling and adherens junction stability in migrating cells. (PubMed id 22595670)1, 2, 3 Linford A....Barr F.A. (2012)
    2. Avl9p, a member of a novel protein superfamily, functions in the late secretory pathway. (PubMed id 17229886)1, 3 Harsay E. and Schekman R. (2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23080 HGNC: 28994 AceView: KIAA0241 Ensembl:ENSG00000105778 euGenes: HUgn23080
    ECgene: AVL9 H-InvDB: AVL9

    (According to HUGE)
    About This Section
    HUGE: KIAA0241

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AVL9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AVL9 gene:
    Search GeneIP for patents involving AVL9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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