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

Gene ID: 654463, updated on 5-Mar-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 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 plasma membrane organization. Predicted to act upstream of or within response to bacterium. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach (RPKM 17.6), colon (RPKM 3.5) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.13
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123851987..124120061)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124984227..125252427)
105.20220307 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 ADP ribosylation factor 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

See all (6) 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_001034201.2

    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_2023_10

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

    See identical proteins and their annotated locations for XP_011515534.1

    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

    See identical proteins and their annotated locations for XP_011515535.1

    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

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