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    FAXC failed axon connections homolog, metaxin like GST domain containing [ Homo sapiens (human) ]

    Gene ID: 84553, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAXCprovided by HGNC
    Official Full Name
    failed axon connections homolog, metaxin like GST domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:20742
    See related
    Ensembl:ENSG00000146267 AllianceGenome:HGNC:20742
    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
    C6orf168; dJ273F20
    Summary
    Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 5.0), prostate (RPKM 1.1) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAXC in Genome Data Viewer
    Location:
    6q16.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99271161..99350056, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (100445536..100524422, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (99719037..99797932, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 548ai Neighboring gene NANOG hESC enhancer GRCh37_chr6:99632134-99632702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24853 Neighboring gene 3-hydroxybutyrate dehydrogenase 2, pseudogene 1 Neighboring gene MPRA-validated peak5979 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99793932-99794432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99794433-99794933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99795824-99796388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17416 Neighboring gene MPRA-validated peak5980 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99841327-99841966 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:99849871-99851070 Neighboring gene coenzyme Q3, methyltransferase Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:99872987-99874186 Neighboring gene PNN interacting serine and arginine rich protein Neighboring gene PNISR antisense RNA 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. Genetic interactions between the Drosophila Abelson (Abl) tyrosine kinase and failed axon connections (fax), a novel protein in axon bundles. Hill KK, et al. Genetics, 1995 Oct. PMID 8647396, Free PMC Article
    2. A genome-wide association study of behavioral disinhibition. McGue M, et al. Behav Genet, 2013 Sep. PMID 23942779, Free PMC Article
    3. Skp2-Mediated Stabilization of MTH1 Promotes Survival of Melanoma Cells upon Oxidative Stress. Wang JY, et al. Cancer Res, 2017 Nov 15. PMID 28947420
    4. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    5. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog

    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

    • MGC2817, FLJ30539

    Gene Ontology Provided by GOA

    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
    		  

    General protein information

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    Preferred Names
    failed axon connections homolog

    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.

    Genomic

    1. NG_051943.1 RefSeqGene

      Range
      5637..84143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346530.2 → NP_001333459.1  failed axon connections homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL034371
      UniProtKB/Swiss-Prot
      Q5TGI0
      Conserved Domains (2) summary
      pfam17171
      Location:142 → 205
      GST_C_6; Glutathione S-transferase, C-terminal domain
      pfam17172
      Location:2 → 91
      GST_N_4; Glutathione S-transferase N-terminal domain

    2. NM_001346531.2 → NP_001333460.1  failed axon connections homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL034371
      Conserved Domains (2) summary
      pfam17171
      Location:210 → 273
      GST_C_6; Glutathione S-transferase, C-terminal domain
      pfam17172
      Location:64 → 159
      GST_N_4; Glutathione S-transferase N-terminal domain

    3. NM_001346532.1 → NP_001333461.1  failed axon connections homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL034371
      Conserved Domains (2) summary
      pfam17171
      Location:210 → 273
      GST_C_6; Glutathione S-transferase, C-terminal domain
      pfam17172
      Location:64 → 159
      GST_N_4; Glutathione S-transferase N-terminal domain

    4. NM_001346533.1 → NP_001333462.1  failed axon connections homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL034371
      UniProtKB/Swiss-Prot
      Q5TGI0
      Conserved Domains (2) summary
      pfam17171
      Location:142 → 205
      GST_C_6; Glutathione S-transferase, C-terminal domain
      pfam17172
      Location:2 → 91
      GST_N_4; Glutathione S-transferase N-terminal domain

    5. NM_032511.4 → NP_115900.1  failed axon connections homolog isoform 1

      See identical proteins and their annotated locations for NP_115900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK055101, AL034371, BC004869, BQ883579
      Consensus CDS
      CCDS34500.1
      UniProtKB/Swiss-Prot
      B3KU39, Q5TGI0, Q96F61, Q96LU3, Q9BR58, Q9BSS2
      Related
      ENSP00000374328.4, ENST00000389677.6
      Conserved Domains (2) summary
      pfam17171
      Location:263 → 326
      GST_C_6; Glutathione S-transferase, C-terminal domain
      pfam17172
      Location:117 → 212
      GST_N_4; Glutathione S-transferase N-terminal domain

    RNA

    1. NR_144463.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL034371

    2. NR_144464.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL034371

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99271161..99350056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715582.3 → XP_006715645.1  failed axon connections homolog isoform X2

      Conserved Domains (1) summary
      cd03193
      Location:42 → 111
      GST_C_Metaxin; C-terminal, alpha helical domain of Metaxin and related proteins

    2. XM_011536189.4 → XP_011534491.1  failed axon connections homolog isoform X1

      Conserved Domains (1) summary
      cd03080
      Location:99 → 172
      GST_N_Metaxin_like; GST_N family, Metaxin subfamily, Metaxin-like proteins; a heterogenous group of proteins, predominantly uncharacterized, with similarity to metaxins and GSTs. Metaxin 1 is a component of a preprotein import complex of the mitochondrial outer membrane. It ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      100445536..100524422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356562.1 → XP_054212537.1  failed axon connections homolog isoform X2

    2. XM_054356561.1 → XP_054212536.1  failed axon connections homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGI0.2 GenPept UniProtKB/Swiss-Prot:Q5TGI0

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