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    AVL9 AVL9 cell migration associated [ Homo sapiens (human) ]

    Gene ID: 23080, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AVL9provided by HGNC
    Official Full Name
    AVL9 cell migration associatedprovided by HGNC
    Primary source
    HGNC:HGNC:28994
    See related
    Ensembl:ENSG00000105778 MIM:612927; AllianceGenome:HGNC:28994
    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
    KIAA0241
    Summary
    Involved in cell migration. Located in recycling endosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.9), colon (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AVL9 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (32495489..32588726)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (32634654..32728104)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (32535101..32628338)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 5 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32534898-32535696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32535697-32536495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25827 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:32552756-32553330 Neighboring gene LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:32553885-32554509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32630869-32631369 Neighboring gene DPY19L1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:32643581-32644106 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:32647796-32648296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25829 Neighboring gene MPRA-validated peak6470 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32720210-32720968 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32727464-32728054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32742322-32742822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32742823-32743323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32747389-32747892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18080 Neighboring gene microRNA 550a-2 Neighboring gene microRNA 550b-2 Neighboring gene zinc and ring finger 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Clinical significance and functions of miR-203a-3p/AVL9 axis in human non-small-cell lung cancer. Liang J, et al. Per Med, 2020 Jul 1. PMID 32678693
    2. hsa_circ_0058357 acts as a ceRNA to promote non‑small cell lung cancer progression via the hsa‑miR‑24‑3p/AVL9 axis. Wei D, et al. Mol Med Rep, 2021 Jun. PMID 33880595, Free PMC Article
    3. Avl9p, a member of a novel protein superfamily, functions in the late secretory pathway. Harsay E, et al. Mol Biol Cell, 2007 Apr. PMID 17229886, Free PMC Article
    4. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. Linford A, et al. Dev Cell, 2012 May 15. PMID 22595670, Free PMC Article
    5. 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. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hsa_circ_0058357 acts as a ceRNA to promote nonsmall cell lung cancer progression via the hsamiR243p/AVL9 axis.
      Title: hsa_circ_0058357 acts as a ceRNA to promote non‑small cell lung cancer progression via the hsa‑miR‑24‑3p/AVL9 axis.
    2. Clinical significance and functions of miR-203a-3p/AVL9 axis in human non-small-cell lung cancer.
      Title: Clinical significance and functions of miR-203a-3p/AVL9 axis in human non-small-cell lung cancer.
    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

    • KIAA0241, DKFZp686G0344

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    late secretory pathway protein AVL9 homolog
    Names
    AVL9 homolog (S. cerevisiase)

    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_001410870.1 → NP_001397799.1  late secretory pathway protein AVL9 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018633, AC018641
      Consensus CDS
      CCDS94078.1
      UniProtKB/TrEMBL
      B8ZZW5
      Related
      ENSP00000387011.1, ENST00000409301.5

    2. NM_015060.3 → NP_055875.1  late secretory pathway protein AVL9 homolog isoform 1

      See identical proteins and their annotated locations for NP_055875.1

      Status: VALIDATED

      Source sequence(s)
      AC018633, AK090619, CN312870, DB477229
      Consensus CDS
      CCDS34613.1
      UniProtKB/Swiss-Prot
      Q8NBF6, Q92573
      Related
      ENSP00000315568.4, ENST00000318709.9
      Conserved Domains (4) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      pfam08616
      Location:381 → 458
      SPA; Stabilization of polarity axis
      pfam09794
      Location:16 → 520
      Avl9; Transport protein Avl9
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      32495489..32588726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249668.3 → XP_005249725.1  late secretory pathway protein AVL9 homolog isoform X1

      Conserved Domains (3) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      pfam09794
      Location:16 → 524
      Avl9; Transport protein Avl9
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    2. XM_005249669.3 → XP_005249726.1  late secretory pathway protein AVL9 homolog isoform X3

      Conserved Domains (3) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      pfam09794
      Location:16 → 524
      Avl9; Transport protein Avl9
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    3. XM_011515227.3 → XP_011513529.1  late secretory pathway protein AVL9 homolog isoform X2

      UniProtKB/TrEMBL
      H7C0I1
      Related
      ENSP00000395134.1, ENST00000446718.1
      Conserved Domains (3) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      pfam09794
      Location:16 → 524
      Avl9; Transport protein Avl9
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    4. XM_005249670.3 → XP_005249727.1  late secretory pathway protein AVL9 homolog isoform X4

      Conserved Domains (3) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      pfam09794
      Location:16 → 426
      Avl9; Transport protein Avl9
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    5. XM_047420069.1 → XP_047276025.1  late secretory pathway protein AVL9 homolog isoform X7

    6. XM_017011891.2 → XP_016867380.1  late secretory pathway protein AVL9 homolog isoform X5

    7. XM_047420071.1 → XP_047276027.1  late secretory pathway protein AVL9 homolog isoform X9

    8. XM_047420068.1 → XP_047276024.1  late secretory pathway protein AVL9 homolog isoform X6

      UniProtKB/TrEMBL
      H7C0I1

    9. XM_047420070.1 → XP_047276026.1  late secretory pathway protein AVL9 homolog isoform X8

      UniProtKB/TrEMBL
      H7C0I1

    10. XM_047420072.1 → XP_047276028.1  late secretory pathway protein AVL9 homolog isoform X10

      UniProtKB/TrEMBL
      Q8N6Z3

    11. XM_005249671.5 → XP_005249728.1  late secretory pathway protein AVL9 homolog isoform X11

      UniProtKB/TrEMBL
      Q8N6Z3
      Conserved Domains (2) summary
      pfam07792
      Location:16 → 76
      Afi1; Docking domain of Afi1 for Arf3 in vesicle trafficking
      cl11519
      Location:116 → 226
      DENN; DENN (AEX-3) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      32634654..32728104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357660.1 → XP_054213635.1  late secretory pathway protein AVL9 homolog isoform X1

    2. XM_054357662.1 → XP_054213637.1  late secretory pathway protein AVL9 homolog isoform X3

    3. XM_054357661.1 → XP_054213636.1  late secretory pathway protein AVL9 homolog isoform X2

      UniProtKB/TrEMBL
      H7C0I1

    4. XM_054357663.1 → XP_054213638.1  late secretory pathway protein AVL9 homolog isoform X4

    5. XM_054357666.1 → XP_054213641.1  late secretory pathway protein AVL9 homolog isoform X7

    6. XM_054357664.1 → XP_054213639.1  late secretory pathway protein AVL9 homolog isoform X5

    7. XM_054357667.1 → XP_054213642.1  late secretory pathway protein AVL9 homolog isoform X9

    8. XM_054357665.1 → XP_054213640.1  late secretory pathway protein AVL9 homolog isoform X6

      UniProtKB/TrEMBL
      H7C0I1

    9. XM_054357668.1 → XP_054213643.1  late secretory pathway protein AVL9 homolog isoform X10

      UniProtKB/TrEMBL
      Q8N6Z3

    10. XM_054357669.1 → XP_054213644.1  late secretory pathway protein AVL9 homolog isoform X11

      UniProtKB/TrEMBL
      Q8N6Z3

    RNA

    1. XR_008487547.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBF6.1 GenPept UniProtKB/Swiss-Prot:Q8NBF6

    Gene LinkOut

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

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