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

Gene ID: 84553, updated on 2-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
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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 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)

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

  • 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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