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

Gene ID: 83856, updated on 2-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
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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 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)

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

  • 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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