U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FBRSL1 fibrosin like 1 [ Homo sapiens (human) ]

Gene ID: 57666, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
FBRSL1provided by HGNC
Official Full Name
fibrosin like 1provided by HGNC
Primary source
HGNC:HGNC:29308
See related
Ensembl:ENSG00000112787 MIM:620123; AllianceGenome:HGNC:29308
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
Summary
Enables RNA binding activity. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression
Ubiquitous expression in spleen (RPKM 3.9), testis (RPKM 3.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See FBRSL1 in Genome Data Viewer
Location:
12q24.33
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132490151..132585188)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132540214..132635194)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133066737..133161774)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133042035-133042599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056253-133056754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056755-133057254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7379 Neighboring gene mucin 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133067825-133068388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133114629-133115130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133115131-133115630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:133127278-133127491 Neighboring gene uncharacterized LOC124903061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7384 Neighboring gene microRNA 6763 Neighboring gene uncharacterized LOC124903062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7385 Neighboring gene uncharacterized LOC105370094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133177517-133178052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133178053-133178587

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. Berger H, et al. Dis Model Mech, 2024 Jun 1. PMID 38501224, Free PMC Article
  2. Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease. Zheng R, et al. Neurosci Lett, 2021 Sep 25. PMID 34352340
  3. BCOR modulates transcriptional activity of a subset of glucocorticoid receptor target genes involved in cell growth and mobility. Manjur ABMK, et al. J Steroid Biochem Mol Biol, 2021 Jun. PMID 33722704
  4. PCGF homologs, CBX proteins, and RYBP define functionally distinct PRC1 family complexes. Gao Z, et al. Mol Cell, 2012 Feb 10. PMID 22325352, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.
    Title: Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.
  2. Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
    Title: Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA1545

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
fibrosin-1-like protein
Names
AUTS2-like protein
HBV X-transactivated gene 9 protein
HBV XAg-transactivated protein 9

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001142641.2 → NP_001136113.1  fibrosin-1-like protein isoform 1

    See identical proteins and their annotated locations for NP_001136113.1

    Status: VALIDATED

    Source sequence(s)
    AB046765, AC079031, AC131212, BU616646
    Consensus CDS
    CCDS45010.1
    UniProtKB/Swiss-Prot
    Q86XQ1, Q9HCM7
    UniProtKB/TrEMBL
    A0A3B3IRR3
    Related
    ENSP00000396160.2, ENST00000434748.2
    Conserved Domains (1) summary
    pfam15336
    Location:587 → 791
    Auts2; Autism susceptibility gene 2 protein

  2. NM_001367871.1 → NP_001354800.1  fibrosin-1-like protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC079031, AC131212
    Consensus CDS
    CCDS91782.1
    UniProtKB/TrEMBL
    A0A3B3IRR3, A0A7P0Z485
    Related
    ENSP00000505341.1, ENST00000680143.1

  3. NM_001382739.1 → NP_001369668.1  fibrosin-1-like protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC079031, AC131212
    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:562 → 766
    Auts2; Autism susceptibility gene 2 protein

  4. NM_001382740.1 → NP_001369669.1  fibrosin-1-like protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC079031, AC131212
    Conserved Domains (1) summary
    pfam15336
    Location:404 → 541
    Auts2; Autism susceptibility gene 2 protein

  5. NM_001382741.1 → NP_001369670.1  fibrosin-1-like protein isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC079031
    Conserved Domains (1) summary
    PRK10263
    Location:444 → 511
    PRK10263; DNA translocase FtsK; Provisional

  6. NM_001382742.1 → NP_001369671.1  fibrosin-1-like protein isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC079031
    Consensus CDS
    CCDS91783.1
    UniProtKB/TrEMBL
    A0A1B0GUN3
    Related
    ENSP00000490180.1, ENST00000542061.2
    Conserved Domains (1) summary
    PRK10263
    Location:345 → 412
    PRK10263; DNA translocase FtsK; Provisional

  7. NM_001382743.1 → NP_001369672.1  fibrosin-1-like protein isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC079031, AC131212

RNA

  1. NR_168498.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC079031

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    132490151..132585188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534812.3 → XP_011533114.1  fibrosin-1-like protein isoform X15

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:505 → 751
    Auts2; Autism susceptibility gene 2 protein

  2. XM_011534807.4 → XP_011533109.1  fibrosin-1-like protein isoform X7

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:563 → 809
    Auts2; Autism susceptibility gene 2 protein

  3. XM_005266176.5 → XP_005266233.1  fibrosin-1-like protein isoform X11

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:544 → 790
    Auts2; Autism susceptibility gene 2 protein

  4. XM_011534809.4 → XP_011533111.1  fibrosin-1-like protein isoform X13

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:542 → 788
    Auts2; Autism susceptibility gene 2 protein

  5. XM_011534803.4 → XP_011533105.1  fibrosin-1-like protein isoform X1

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:604 → 850
    Auts2; Autism susceptibility gene 2 protein

  6. XM_011534808.4 → XP_011533110.1  fibrosin-1-like protein isoform X8

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:604 → 808
    Auts2; Autism susceptibility gene 2 protein

  7. XM_011534810.4 → XP_011533112.1  fibrosin-1-like protein isoform X14

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:604 → 780
    Auts2; Autism susceptibility gene 2 protein

  8. XM_011534806.4 → XP_011533108.1  fibrosin-1-like protein isoform X6

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:581 → 827
    Auts2; Autism susceptibility gene 2 protein

  9. XM_005266171.5 → XP_005266228.1  fibrosin-1-like protein isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:585 → 831
    Auts2; Autism susceptibility gene 2 protein

  10. XM_005266177.5 → XP_005266234.1  fibrosin-1-like protein isoform X12

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Related
    ENSP00000496901.1, ENST00000650108.1
    Conserved Domains (1) summary
    pfam15336
    Location:585 → 789
    Auts2; Autism susceptibility gene 2 protein

  11. XM_005266175.5 → XP_005266232.1  fibrosin-1-like protein isoform X10

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:562 → 808
    Auts2; Autism susceptibility gene 2 protein

  12. XM_005266173.5 → XP_005266230.1  fibrosin-1-like protein isoform X4

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:583 → 829
    Auts2; Autism susceptibility gene 2 protein

  13. XM_011534805.4 → XP_011533107.1  fibrosin-1-like protein isoform X5

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:581 → 827
    Auts2; Autism susceptibility gene 2 protein

  14. XM_047429219.1 → XP_047285175.1  fibrosin-1-like protein isoform X9

  15. XM_011534804.4 → XP_011533106.1  fibrosin-1-like protein isoform X2

    UniProtKB/TrEMBL
    A0A3B3IRR3
    Conserved Domains (1) summary
    pfam15336
    Location:603 → 849
    Auts2; Autism susceptibility gene 2 protein

  16. XM_047429220.1 → XP_047285176.1  fibrosin-1-like protein isoform X16

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    132540214..132635194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372690.1 → XP_054228665.1  fibrosin-1-like protein isoform X15

  2. XM_054372682.1 → XP_054228657.1  fibrosin-1-like protein isoform X7

  3. XM_054372686.1 → XP_054228661.1  fibrosin-1-like protein isoform X11

  4. XM_054372688.1 → XP_054228663.1  fibrosin-1-like protein isoform X13

  5. XM_054372676.1 → XP_054228651.1  fibrosin-1-like protein isoform X1

  6. XM_054372683.1 → XP_054228658.1  fibrosin-1-like protein isoform X8

  7. XM_054372689.1 → XP_054228664.1  fibrosin-1-like protein isoform X14

  8. XM_054372681.1 → XP_054228656.1  fibrosin-1-like protein isoform X6

  9. XM_054372678.1 → XP_054228653.1  fibrosin-1-like protein isoform X3

  10. XM_054372687.1 → XP_054228662.1  fibrosin-1-like protein isoform X12

  11. XM_054372685.1 → XP_054228660.1  fibrosin-1-like protein isoform X10

  12. XM_054372679.1 → XP_054228654.1  fibrosin-1-like protein isoform X4

  13. XM_054372680.1 → XP_054228655.1  fibrosin-1-like protein isoform X5

  14. XM_054372684.1 → XP_054228659.1  fibrosin-1-like protein isoform X9

  15. XM_054372677.1 → XP_054228652.1  fibrosin-1-like protein isoform X2

  16. XM_054372691.1 → XP_054228666.1  fibrosin-1-like protein isoform X16

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCM7.4 GenPept UniProtKB/Swiss-Prot:Q9HCM7

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools