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    FSD1L fibronectin type III and SPRY domain containing 1 like [ Homo sapiens (human) ]

    Gene ID: 83856, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FSD1Lprovided by HGNC
    Official Full Name
    fibronectin type III and SPRY domain containing 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:13753
    See related
    Ensembl:ENSG00000106701 MIM:609829; AllianceGenome:HGNC:13753
    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
    MIR1; CCDC10; FSD1CL; FSD1NL; CSDUFD1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 4.1), testis (RPKM 1.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FSD1L in Genome Data Viewer
    Location:
    9q31.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (105442177..105552433)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (117616823..117727102)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (108210315..108314714)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:107875055-107875555 Neighboring gene RN7SK pseudogene 191 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:107899749-107900728 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:107900729-107901708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:107901709-107902688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:107902689-107903668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28737 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:107935529-107936117 Neighboring gene uncharacterized LOC112268038 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:108006574-108007478 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:108007479-108008382 Neighboring gene MPRA-validated peak7312 silencer Neighboring gene solute carrier family 44 member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:108061257-108062456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28738 Neighboring gene MPRA-validated peak7314 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28742 Neighboring gene RALGAPA1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28744 Neighboring gene FKTN antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:108355386-108355925 Neighboring gene fukutin Neighboring gene GATA motif-containing MPRA enhancer 228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:108413980-108414542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28746 Neighboring gene TAL bHLH transcription factor 2

    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. Maternal glycemia in pregnancy is longitudinally associated with blood DNAm variation at the FSD1L gene from birth to 5 years of age. Taschereau A, et al. Clin Epigenetics, 2023 Jun 29. PMID 37386647, Free PMC Article
    2. Cystatins--Extra- and intracellular cysteine protease inhibitors: High-level secretion and uptake of cystatin C in human neuroblastoma cells. Wallin H, et al. Biochimie, 2010 Nov. PMID 20800088
    3. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. Carim-Todd L, et al. Biochim Biophys Acta, 2001 Mar 19. PMID 11267680
    4. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Perry JR, et al. Nat Genet, 2009 Jun. PMID 19448620, Free PMC Article
    5. RIPK4 activity in keratinocytes is controlled by the SCF(β-TrCP) ubiquitin ligase to maintain cortical actin organization. Tanghe G, et al. Cell Mol Life Sci, 2018 Aug. PMID 29435596, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Maternal glycemia in pregnancy is longitudinally associated with blood DNAm variation at the FSD1L gene from birth to 5 years of age.
      Title: Maternal glycemia in pregnancy is longitudinally associated with blood DNAm variation at the FSD1L gene from birth to 5 years of age.
    2. significant internalisation of type 2 cystatins from the extracellular to intracellular compartments
      Title: Cystatins--Extra- and intracellular cysteine protease inhibitors: High-level secretion and uptake of cystatin C in human neuroblastoma cells.
    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

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
    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

    • MGC45564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    FSD1-like protein
    Names
    FSD1 C-terminal like
    FSD1 N-terminal like
    coiled-coil domain containing 10
    cystatin and DUF19 domain containing 1

    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_001145313.3 → NP_001138785.1  FSD1-like protein isoform 3

      See identical proteins and their annotated locations for NP_001138785.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AK299350, AK309817, BC036746, CR936789
      Consensus CDS
      CCDS47999.1
      UniProtKB/Swiss-Prot
      A2A338, A6NKH7, B7Z5S6, B7Z5W3, Q5T879, Q5T880, Q9BXM9
      Related
      ENSP00000417492.1, ENST00000481272.6
      Conserved Domains (3) summary
      smart00502
      Location:36 → 162
      BBC; B-Box C-terminal domain
      cd00063
      Location:197 → 297
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:302 → 505
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    2. NM_001287191.2 → NP_001274120.1  FSD1-like protein isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and contains an additional in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (4) is shorter than isoform 3.
      Source sequence(s)
      AK296433, AK299491, BC036746, BP229804, CR936789
      UniProtKB/Swiss-Prot
      Q9BXM9
      UniProtKB/TrEMBL
      A0A0A0MRS5, B7Z3W5, Q8N450
      Conserved Domains (3) summary
      smart00502
      Location:4 → 130
      BBC; B-Box C-terminal domain
      cd00063
      Location:165 → 265
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:270 → 483
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    3. NM_001287192.2 → NP_001274121.1  FSD1-like protein isoform 5

      See identical proteins and their annotated locations for NP_001274121.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (5) is shorter than isoform 3.
      Source sequence(s)
      AK299491, BC036746, BP229804, BP365251, CR936789
      Consensus CDS
      CCDS6765.3
      UniProtKB/TrEMBL
      A0A0C4DG97
      Related
      ENSP00000419691.1, ENST00000484973.5
      Conserved Domains (3) summary
      smart00502
      Location:4 → 130
      BBC; B-Box C-terminal domain
      cd00063
      Location:165 → 265
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:270 → 472
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    4. NM_001330739.2 → NP_001317668.1  FSD1-like protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL158070, AL161627, BP229804, CR936789, DC343340
      Consensus CDS
      CCDS83391.1
      UniProtKB/TrEMBL
      F8W946
      Related
      ENSP00000378384.3, ENST00000394926.7
      Conserved Domains (3) summary
      smart00502
      Location:4 → 130
      BBC; B-Box C-terminal domain
      cd00063
      Location:165 → 265
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:270 → 484
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    5. NM_031919.5 → NP_114125.1  FSD1-like protein isoform 2

      See identical proteins and their annotated locations for NP_114125.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, and also lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 3. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 3.
      Source sequence(s)
      AF316830, AL161627, BP229804
      Consensus CDS
      CCDS6764.1
      UniProtKB/Swiss-Prot
      Q9BXM9
      Related
      ENSP00000487223.1, ENST00000469022.5
      Conserved Domains (1) summary
      cl25407
      Location:4 → 113
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      105442177..105552433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015185.2 → XP_016870674.1  FSD1-like protein isoform X8

      UniProtKB/TrEMBL
      C9JD05

    2. XM_011519079.3 → XP_011517381.2  FSD1-like protein isoform X3

    3. XM_011519078.3 → XP_011517380.2  FSD1-like protein isoform X2

    4. XM_011519077.3 → XP_011517379.1  FSD1-like protein isoform X1

      Conserved Domains (3) summary
      cd00063
      Location:203 → 303
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:308 → 522
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus
      cl23765
      Location:42 → 168
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    5. XM_005252254.3 → XP_005252311.1  FSD1-like protein isoform X4

      Conserved Domains (3) summary
      smart00502
      Location:36 → 162
      BBC; B-Box C-terminal domain
      cd00063
      Location:197 → 297
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:302 → 516
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    6. XM_017015182.2 → XP_016870671.1  FSD1-like protein isoform X5

    7. XM_047423949.1 → XP_047279905.1  FSD1-like protein isoform X9

      Related
      ENSP00000420624.1, ENST00000495708.5

    8. XM_017015183.2 → XP_016870672.1  FSD1-like protein isoform X6

      UniProtKB/Swiss-Prot
      Q9BXM9

    9. XM_017015187.2 → XP_016870676.1  FSD1-like protein isoform X11

      UniProtKB/TrEMBL
      C9JD05

    10. XM_017015184.2 → XP_016870673.1  FSD1-like protein isoform X7

      UniProtKB/TrEMBL
      B7Z3W5
      Conserved Domains (2) summary
      cd00063
      Location:52 → 140
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:145 → 359
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    11. XM_047423948.1 → XP_047279904.1  FSD1-like protein isoform X7

    12. XM_011519080.3 → XP_011517382.1  FSD1-like protein isoform X10

      UniProtKB/TrEMBL
      Q8N450
      Related
      ENSP00000363839.1, ENST00000374707.1
      Conserved Domains (2) summary
      cd00063
      Location:2 → 78
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12901
      Location:83 → 297
      SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      117616823..117727102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363941.1 → XP_054219916.1  FSD1-like protein isoform X8

    2. XM_054363935.1 → XP_054219910.1  FSD1-like protein isoform X3

    3. XM_054363934.1 → XP_054219909.1  FSD1-like protein isoform X2

    4. XM_054363933.1 → XP_054219908.1  FSD1-like protein isoform X1

    5. XM_054363936.1 → XP_054219911.1  FSD1-like protein isoform X4

    6. XM_054363937.1 → XP_054219912.1  FSD1-like protein isoform X5

    7. XM_054363942.1 → XP_054219917.1  FSD1-like protein isoform X9

    8. XM_054363938.1 → XP_054219913.1  FSD1-like protein isoform X6

    9. XM_054363944.1 → XP_054219919.1  FSD1-like protein isoform X11

    10. XM_054363940.1 → XP_054219915.1  FSD1-like protein isoform X7

    11. XM_054363939.1 → XP_054219914.1  FSD1-like protein isoform X7

    12. XM_054363943.1 → XP_054219918.1  FSD1-like protein isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207647.2: Suppressed sequence

      Description
      NM_207647.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXM9.2 GenPept UniProtKB/Swiss-Prot:Q9BXM9

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