Sestd1 SEC14 and spectrin domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sestd1provided by MGI
Official Full Name: SEC14 and spectrin domains 1provided by MGI
Primary source: MGI:MGI:1916262
See related: Ensembl:ENSMUSG00000042272 AllianceGenome:MGI:1916262
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A930010O20; Solo/Trio8; 1500031J16Rik
Summary: Predicted to enable phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Predicted to be involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Predicted to be located in intermediate filament cytoskeleton. Predicted to be part of calcium channel complex. Is expressed in cranial ganglion and dorsal root ganglion. Orthologous to human SESTD1 (SEC14 and spectrin domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 13.9), whole brain E14.5 (RPKM 12.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 45.92 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (77010684..77111160, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (77180340..77280627, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sestd1 is a developmentally dynamic synaptic regulator of Rho GTPases that contributes to dendrite and excitatory synapse formation in the forebrain.
Title: Sestd1 Encodes a Developmentally Dynamic Synapse Protein That Complexes With BCR Rac1-GAP to Regulate Forebrain Dendrite, Spine and Synapse Formation.
Data indicate that Sestd1 cooperates with Dact1 in Vangl2 regulation and in the planar cell polarity (PCP) pathway during mammalian embryonic development.
Title: SEC14 and spectrin domains 1 (Sestd1) and Dapper antagonist of catenin 1 (Dact1) scaffold proteins cooperatively regulate the Van Gogh-like 2 (Vangl2) four-pass transmembrane protein and planar cell polarity (PCP) pathway during embryonic development in mice.
These results suggest that Solo/Trio8 acts as an early-endosome-specific upstream activator of Rho family GTPases for neurite elongation of developing Purkinje neurons.[Trio8]
Title: Solo/Trio8, a membrane-associated short isoform of Trio, modulates endosome dynamics and neurite elongation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Mit299 (e-PCR), detects polymorphism
- UniSTS:116754

NoName (e-PCR)
- UniSTS:234435

AW208992 (e-PCR)
- UniSTS:207348

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-5-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-5-phosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of calcium channel complex	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: SEC14 domain and spectrin repeat-containing protein 1

Names: huntingtin-interacting protein-like protein

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_175465.6 → NP_780674.1 SEC14 domain and spectrin repeat-containing protein 1

See identical proteins and their annotated locations for NP_780674.1

Status: VALIDATED

Source sequence(s)

AI848264, AL772242, BB647911, BG082832, CF175139, CN664477, CO425092

Consensus CDS

CCDS16163.1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Related

ENSMUSP00000099720.2, ENSMUST00000102659.2

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

77010684..77111160 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317597.3 → XP_017173086.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X3
XM_011239447.3 → XP_011237749.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X2

Conserved Domains (2) summary

cl02488
Location:191 → 396

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam13716
Location:1 → 71

CRAL_TRIO_2; Divergent CRAL/TRIO domain
XM_006499200.3 → XP_006499263.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006499263.1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_030250180.2 → XP_030106040.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Related

ENSMUSP00000099721.2, ENSMUST00000102660.8

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_030250181.2 → XP_030106041.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_036161141.1 → XP_036017034.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_006499201.2 → XP_006499264.1 SEC14 domain and spectrin repeat-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006499264.1

UniProtKB/Swiss-Prot

Q3TLJ1, Q80UK0, Q810W3, Q8CI09

Conserved Domains (2) summary

pfam13716
Location:33 → 153

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl02488
Location:273 → 478

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...