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    FER1L6 fer-1 like family member 6 [ Homo sapiens (human) ]

    Gene ID: 654463, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FER1L6provided by HGNC
    Official Full Name
    fer-1 like family member 6provided by HGNC
    Primary source
    HGNC:HGNC:28065
    See related
    Ensembl:ENSG00000214814 MIM:620884; AllianceGenome:HGNC:28065
    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
    C8ORFK23
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in positive regulation of gene expression. Predicted to act upstream of or within response to bacterium. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in stomach (RPKM 17.6), colon (RPKM 3.5) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FER1L6 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123851987..124120061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124984227..125252427)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124864227..125132302)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375739 Neighboring gene annexin A13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19506 Neighboring gene family with sequence similarity 91 member A1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:124863791-124863939 Neighboring gene uncharacterized LOC124902014 Neighboring gene Sharpr-MPRA regulatory region 15371 Neighboring gene FER1L6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12119 Neighboring gene FER1L6 antisense RNA 2 Neighboring gene neuropilin and tolloid like 2 pseudogene Neighboring gene ARF GTPase 1 pseudogene 3

    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. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. Ichikawa S, et al. J Bone Miner Res, 2010 Aug. PMID 20200978, Free PMC Article
    2. USP7 targets XIAP for cancer progression: Establishment of a p53-independent therapeutic avenue for glioma. Saha G, et al. Oncogene, 2022 Nov. PMID 36243803
    3. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    4. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    5. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fer-1-like protein 6
    Names
    fer-1-like 6

    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_001039112.2 → NP_001034201.2  fer-1-like protein 6

      Status: VALIDATED

      Source sequence(s)
      AB196633, AC011134, AC100871, DV080599, DW010047
      Consensus CDS
      CCDS43767.1
      UniProtKB/Swiss-Prot
      Q2WGJ9
      Related
      ENSP00000428280.1, ENST00000522917.5
      Conserved Domains (8) summary
      cd04011
      Location:80 → 189
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:826 → 959
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:244 → 395
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1357 → 1480
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1597 → 1730
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:713 → 784
      FerB; FerB (NUC096) domain
      pfam08151
      Location:187 → 236
      FerI; FerI (NUC094) domain
      pfam16165
      Location:1741 → 1850
      Ferlin_C; Ferlin C-terminus

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      123851987..124120061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517231.3 → XP_011515533.1  fer-1-like protein 6 isoform X1

      Conserved Domains (8) summary
      cd04011
      Location:103 → 212
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:849 → 982
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:267 → 418
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1380 → 1503
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1620 → 1753
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:736 → 807
      FerB; FerB (NUC096) domain
      pfam08151
      Location:210 → 259
      FerI; FerI (NUC094) domain
      pfam16165
      Location:1764 → 1873
      Ferlin_C; Ferlin C-terminus

    2. XM_006716618.4 → XP_006716681.1  fer-1-like protein 6 isoform X2

      Conserved Domains (8) summary
      cd04011
      Location:90 → 199
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:836 → 969
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:254 → 405
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1367 → 1490
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1607 → 1740
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:723 → 794
      FerB; FerB (NUC096) domain
      pfam08151
      Location:197 → 246
      FerI; FerI (NUC094) domain
      pfam16165
      Location:1751 → 1860
      Ferlin_C; Ferlin C-terminus

    3. XM_011517235.4 → XP_011515537.1  fer-1-like protein 6 isoform X4

      Conserved Domains (7) summary
      cd04011
      Location:103 → 212
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:849 → 982
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:267 → 418
      C2C_Ferlin; C2 domain third repeat in Ferlin
      pfam05103
      Location:628 → 734
      DivIVA; DivIVA protein
      pfam08150
      Location:736 → 807
      FerB; FerB (NUC096) domain
      pfam08151
      Location:210 → 259
      FerI; FerI (NUC094) domain
      cl14603
      Location:1380 → 1437
      C2; C2 domain

    4. XM_011517232.4 → XP_011515534.1  fer-1-like protein 6 isoform X3

      UniProtKB/Swiss-Prot
      Q2WGJ9
      Conserved Domains (8) summary
      cd04011
      Location:80 → 189
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:826 → 959
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:244 → 395
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1357 → 1480
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1597 → 1730
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:713 → 784
      FerB; FerB (NUC096) domain
      pfam08151
      Location:187 → 236
      FerI; FerI (NUC094) domain
      pfam16165
      Location:1741 → 1850
      Ferlin_C; Ferlin C-terminus

    5. XM_011517233.4 → XP_011515535.1  fer-1-like protein 6 isoform X3

      UniProtKB/Swiss-Prot
      Q2WGJ9
      Conserved Domains (8) summary
      cd04011
      Location:80 → 189
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:826 → 959
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:244 → 395
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1357 → 1480
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1597 → 1730
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:713 → 784
      FerB; FerB (NUC096) domain
      pfam08151
      Location:187 → 236
      FerI; FerI (NUC094) domain
      pfam16165
      Location:1741 → 1850
      Ferlin_C; Ferlin C-terminus

    6. XM_047422118.1 → XP_047278074.1  fer-1-like protein 6 isoform X6

    7. XM_011517236.3 → XP_011515538.1  fer-1-like protein 6 isoform X5

      Conserved Domains (4) summary
      cd04017
      Location:4 → 99
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:497 → 620
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:737 → 870
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam16165
      Location:881 → 990
      Ferlin_C; Ferlin C-terminus

    8. XM_047422117.1 → XP_047278073.1  fer-1-like protein 6 isoform X6

    RNA

    1. XR_928347.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124984227..125252427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361033.1 → XP_054217008.1  fer-1-like protein 6 isoform X1

    2. XM_054361037.1 → XP_054217012.1  fer-1-like protein 6 isoform X4

    3. XM_054361034.1 → XP_054217009.1  fer-1-like protein 6 isoform X2

    4. XM_054361035.1 → XP_054217010.1  fer-1-like protein 6 isoform X3

    5. XM_054361036.1 → XP_054217011.1  fer-1-like protein 6 isoform X3

    6. XM_054361040.1 → XP_054217015.1  fer-1-like protein 6 isoform X6

    7. XM_054361038.1 → XP_054217013.1  fer-1-like protein 6 isoform X5

    8. XM_054361039.1 → XP_054217014.1  fer-1-like protein 6 isoform X6

    RNA

    1. XR_008487872.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2WGJ9.2 GenPept UniProtKB/Swiss-Prot:Q2WGJ9

    Gene LinkOut

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

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