PACSIN1 protein kinase C and casein kinase substrate in neurons 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PACSIN1provided by HGNC
Official Full Name: protein kinase C and casein kinase substrate in neurons 1provided by HGNC
Primary source: HGNC:HGNC:8570
See related: Ensembl:ENSG00000124507 MIM:606512; AllianceGenome:HGNC:8570
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: SDPI
Summary: Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 42.1) and lymph node (RPKM 1.5) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (34466076..34535223)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (34289922..34359072)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (34433853..34503000)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Title: De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1.
Title: Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1.
Curvature induction and sensing of the F-BAR protein Pacsin1 on lipid membranes via molecular dynamics simulations.
Title: Curvature induction and sensing of the F-BAR protein Pacsin1 on lipid membranes via molecular dynamics simulations.
PACSIN1 and EHD1 assemble membrane tubules from the developing intracellular cilium that attach to the plasma membrane, creating an extracellular membrane channel to the outside of the cell.
Title: Investigation of F-BAR domain PACSIN proteins uncovers membrane tubulation function in cilia assembly and transport.
Specifically, CKS1B and MAP2K5 significantly inhibited hepatitis C viral RNA replication. PACSIN1, by contrast, inhibited hepatitis C virus infection by decreasing the level of viral protein p7.
Title: Identification of novel human kinases that suppress hepatitis C virus infection.
syndapin I functions reflected direct, SH3 domain-mediated associations and functional interactions with ProSAP1/Shank2.
Title: ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.
Data indicate that the structural capacity of N17 to fold back toward distal regions within huntingtin requires an interacting protein, protein kinase C and casein kinase 2 substrate in neurons 1 (PACSIN1).
Title: Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin.
Pacsin-1 plays a versatile role in sculpting cellular membranes that is likely dependent both on protein structure and membrane properties.
Title: Versatile membrane deformation potential of activated pacsin.
PACSIN1 represents a pDC-specific adaptor molecule that plays an important role in the TLR7/9-mediated type I IFN responses by pDCs in vitro and in vivo.
Title: PACSIN1 regulates the TLR7/9-mediated type I interferon response in plasmacytoid dendritic cells.
Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation
Title: Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

RH77896 (e-PCR)
- UniSTS:20047

A001Z37 (e-PCR)
- UniSTS:5735

RH92669 (e-PCR)
- UniSTS:90493

RH121019 (e-PCR)
- UniSTS:134071

A009Q41 (e-PCR)
- UniSTS:78585

L18005 (e-PCR)
- UniSTS:31737

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytoskeletal protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endocytosis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendrite development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle endocytosis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor ribbon synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic endocytic zone	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein kinase C and casein kinase substrate in neurons protein 1

Names: syndapin I; syndapin-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_001199583.3 → NP_001186512.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_001186512.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR exon and encodes the same protein as variant 1.

Source sequence(s)

AL157372, BC040228, BP251080

Consensus CDS

CCDS4793.1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

B4DFJ9, Q5TZC3

Related

ENSP00000439639.1, ENST00000538621.2

Conserved Domains (2) summary

cd07680
Location:19 → 276

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:388 → 443

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_020804.5 → NP_065855.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_065855.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL157372, AL834211, BP211882

Consensus CDS

CCDS4793.1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

B4DFJ9, Q5TZC3

Related

ENSP00000244458.2, ENST00000244458.7

Conserved Domains (2) summary

cd07680
Location:19 → 276

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:388 → 443

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

34466076..34535223

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514541.2 → XP_011512843.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

See identical proteins and their annotated locations for XP_011512843.1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

B4DFJ9, Q5TZC3

Conserved Domains (2) summary

cd07680
Location:19 → 276

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:388 → 443

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
XM_047418689.1 → XP_047274645.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

Q5TZC3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

34289922..34359072

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355264.1 → XP_054211239.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

Q5TZC3
XM_054355265.1 → XP_054211240.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

UniProtKB/Swiss-Prot

Q9BY11, Q9P2G8

UniProtKB/TrEMBL

Q5TZC3