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

Gene ID: 23080, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 9.9), colon (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p14.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (32495489..32588726)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (32634654..32728104)
105.20220307 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: 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. 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
  2. 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
  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 (25) 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)

Genotypes

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_2023_10

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

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

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

  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

  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

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

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

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

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