FSD1 fibronectin type III and SPRY domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FSD1provided by HGNC
Official Full Name: fibronectin type III and SPRY domain containing 1provided by HGNC
Primary source: HGNC:HGNC:13745
See related: Ensembl:ENSG00000105255 MIM:609828; AllianceGenome:HGNC:13745
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIR1; GLFND
Summary: This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
Expression: Biased expression in brain (RPKM 10.1), testis (RPKM 4.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4304598..4323836)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4287878..4307238)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4304595..4323833)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proliferation of PC cells by targeting the c-Met/Akt/mTOR signaling pathway.
Title: MiR-1 inhibits prostate cancer PC3 cells proliferation through the Akt/mTOR signaling pathway by binding to c-Met.
The centrosome protein FSD1 anchors microtubule asters to interphase centrosomes by binding to microtubules.
Title: Microtubule asters anchored by FSD1 control axoneme assembly and ciliogenesis.
Overexpression of miR-1 mimics significantly decreased tumor glycolysis, including lactate production and glucose uptake, and cell proliferation, and these effects were reversed by ectopic expression of Smad3.
Title: MiR-1 suppresses tumor cell proliferation in colorectal cancer by inhibition of Smad3-mediated tumor glycolysis.
These regulatory mechanisms of miR-1 expression could help us to understand the functions of altered miR-1 expression.
Title: Regulation of microRNA-1 (miR-1) expression in human cancer.
Taken together, our findings established a tumor suppressive role for miR-1 in the progression of ccRCC by targeting CDK4, CDK6, Caprin1 and Slug and suggested miR-1 can be served as a novel potential therapeutic target for ccRCC.
Title: MiR-1 downregulation correlates with poor survival in clear cell renal cell carcinoma where it interferes with cell cycle regulation and metastasis.
Data report the identification of MIR1, a protein with microtubule-binding activity which is located at the centrosome and is related to MID1/midin. [MIR1]
Title: A novel centrosome-associated protein with affinity for microtubules.

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

RH91102 (e-PCR)
- UniSTS:85527

WI-18176 (e-PCR)
- UniSTS:53544

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokinesis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitotic spindle organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fibronectin type III and SPRY domain-containing protein 1

Names: MID1-related protein 1; fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1; fibronectin type 3 and SPRY domain containing 1; microtubule-associated protein GLFND; midline 1-related protein 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)

NM_001330429.2 → NP_001317358.1 fibronectin type III and SPRY domain-containing protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC008616, CA749067

Consensus CDS

CCDS82277.1

UniProtKB/TrEMBL

M0R366

Related

ENSP00000473022.1, ENST00000597590.5

Conserved Domains (3) summary

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 ...

cl02614
Location:270 → 402

SPRY; SPRY domain

cl25407
Location:4 → 120

ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
NM_024333.3 → NP_077309.1 fibronectin type III and SPRY domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_077309.1

Status: REVIEWED

Source sequence(s)

AC008616, BC003124, DA690632

Consensus CDS

CCDS12127.1

UniProtKB/Swiss-Prot

B2RDT0, Q9BTV5, Q9BXN0, Q9HAG4

Related

ENSP00000221856.5, ENST00000221856.11

Conserved Domains (3) summary

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 → 476

SPRY_PRY_FSD1; Fibronectin type III and SPRY containing 1 (FSD1) domain includes PRY at the N-terminus

cl25407
Location:4 → 120

ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)