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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PACSIN1 Gene

protein-coding GIFtS: 55
GCID: GC06P035769

protein kinase C and casein kinase substrate in neurons...

Explore 3 diseases affiliated with
PACSIN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Protein Kinase C And Casein Kinase Substrate In Neurons 1¹ ²
SDPI¹ ²
KIAA1379³ ⁵
Protein Kinase C And Casein Kinase Substrate In Neurons Protein 1²
Syndapin I²

External Ids:	HGNC: 8570¹	Entrez Gene: 29993²	Ensembl: ENSG00000124507⁷	OMIM: 606512⁵	UniProtKB: Q9BY11³

Export aliases for PACSIN1 gene to outside databases

Previous GC identifers: GC06P034435 GC06P034480 GC06P034541 GC06P034156 GC06P034562

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11

Function: May play a role in endocytosis (By similarity)

Gene Wiki entry for PACSIN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PACSIN1 gene promoter:
Sp1 Egr-1 CUTL1 MEF-2A PPAR-gamma1 STAT3 PPAR-gamma2 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PACSIN1 promoter sequence

Search SABiosciences Chromatin IP Primers for PACSIN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PACSIN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.31 HGNC cytogenetic band: 6p21.3

PACSIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PACSIN1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P035769: view genomic region (about GC identifiers)

Start:	34,433,905 bp from pter	End:	34,503,006 bp from pter
Size:	69,102 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11 (See protein sequence)

Recommended Name: Protein kinase C and casein kinase substrate in neurons protein 1

Size: 444 amino acids; 50966 Da

Subunit: May form homo- and heterooligomers with other PACSINs. Interacts with DNM1, SYNJ1 and WASL through its SH3

domain (By similarity)

Subcellular location: Cytoplasm (By similarity). Cell projection (By similarity). Note=In primary neuronal cultures,

present at a high level in presynaptic nerve terminals and in the cell body. Colocalizes with DNM1 at vesicular

structures in the cell body and neurites (By similarity)

Sequence caution: Sequence=BAA92617.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

4 PDB 3D structures from and Proteopedia for PACSIN1:

3HAH (3D)

3HAI (3D)

3Q84 (3D)

3QNI (3D)

Secondary accessions: Q9P2G8

Explore the universe of human proteins at neXtProt for PACSIN1: NX_Q9BY11

Post-translational modifications:

Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BY11

PACSIN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001186512.1 NP_065855.1

ENSEMBL proteins:

ENSP00000244458 ENSP00000363155 ENSP00000439639

Human Recombinant Protein Products for PACSIN1:

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	Uscn Proteins for PACSIN1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	NAS	--
GO:0005886	plasma membrane	ISS	--
GO:0030137	COPI-coated vesicle	IEA	--
GO:0042995	cell projection	IEA	--
GO:0045202	synapse	ISS	--

PACSIN1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PACSIN1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001060 FCH

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry Q9BY11

ProtoNet protein and cluster: Q9BY11

2 Blocks protein families:

IPB001060 Cdc15/Fes/CIP4

IPB001452 SH3 domain signature

UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11

Similarity: Belongs to the PACSIN family

Similarity: Contains 1 FCH domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PACN1_HUMAN, Q9BY11

Function: May play a role in endocytosis (By similarity)

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	NAS	--
GO:0005515	protein binding	--	--
GO:0008092	cytoskeletal protein binding	IEA	--

PACSIN1 for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pacsin1):

homeostasis/metabolism

immune system

PACSIN1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PACSIN1

miRNA Products:		OriGene 3'-UTR Clone: PACSIN1 Browse MicroRNA Expression Plasmids
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		hsa-miR-2052 hsa-miR-100* hsa-miR-19b-2* hsa-miR-875-5p hsa-miR-764 hsa-miR-4267 hsa-miR-105 hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: PACSIN1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACSIN1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PACSIN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/70 Interacting proteins for PACSIN1 (Q9BY11^{2, 3} ENSP00000244458⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HTT	P42858²^,³, ENSP00000347184⁴	MINT-7101438 I2D: score=3 STRING: ENSP00000347184
FASLG	P48023²^,³, ENSP00000356694⁴	MINT-7136865 MINT-7137136 MINT-7136879 MINT-7137127 I2D: score=1 STRING: ENSP00000356694
HSPA1A	P08107³, ENSP00000364802⁴	I2D: score=1 STRING: ENSP00000364802
ARHGAP17	Q68EM7³, ENSP00000289968⁴	I2D: score=4 STRING: ENSP00000289968
PACSIN3	Q9UKS6³, ENSP00000298838⁴	I2D: score=4 STRING: ENSP00000298838

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein phosphorylation	NAS	--
GO:0006897	endocytosis	NAS	--
GO:0007010	cytoskeleton organization	--	--
GO:0045806	negative regulation of endocytosis	IEA	--
GO:0090002	establishment of protein localization to plasma membrane	ISS	--

PACSIN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PACSIN1
Search CenterWatch for drugs/clinical trials and news about PACSIN1 / PACN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for PACSIN1 gene (2 alternative transcripts):

NM_001199583.2 NM_020804.4

Unigene Cluster for PACSIN1:

Protein kinase C and casein kinase substrate in neurons 1

Hs.520087 [show with all ESTs]

Unigene Representative Sequence: NM_020804

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000244458(uc003ojo.3) ENST00000374043 ENST00000493633 ENST00000486120

ENST00000487760 ENST00000538621(uc003ojp.3)

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		hsa-miR-2052 hsa-miR-100* hsa-miR-19b-2* hsa-miR-875-5p hsa-miR-764 hsa-miR-4267 hsa-miR-105 hsa-miR-9

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Additional cDNA sequence:

AB037800.2 AF242529.1 AK289956.1 AL834211.1 BC040228.1 BC128219.1 BC128220.1

6 DOTS entries:

DT.112551 DT.100650803 DT.100698861 DT.40113398 DT.92421140 DT.97776342

24/100 AceView cDNA sequences (see all 100):

AI822046 T09405 BE254304 BX094526 H43777 F03627 BC040228 BM693384

BM668658 AB037800 BM703989 BF953173 AL834211 CR612772 NM_020804 AA323180

AI804979 BU193429 CF453906 BP348926 BM701771 BX328354 AL533043 BP348603

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PACSIN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTGTGTAAT

About this image

PACSIN1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PACSIN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PACSIN1

SOURCE GeneReport for Unigene cluster: Hs.520087

UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11

Tissue specificity: Highly expressed in brain and, at much lower levels, in heart and pancreas

SABiosciences Expression via Pathway-Focused PCR Array including PACSIN1:

Huntington's Disease in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PACSIN1 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pacsin1^{1 , 5}	protein kinase C and casein kinase substrate in neurons more^{1, 5}	89.8(n)¹ 95.69(a)¹		17 (14.59 cM)⁵ 23969¹ NM_011861.2¹ NP_035991.1¹ 27655509⁵
chicken (Gallus gallus)	Aves	PACSIN1¹	protein kinase C and casein kinase substrate in neurons more	81.87(n) 86(a)		419903 XM_418028.3 XP_418028.3
lizard (Anolis carolinensis)	Reptilia	PACSIN1⁶	--	81(a)	1 ↔ 1	4(121346595-121359937)
zebrafish (Danio rerio)	Actinopterygii	pacsin1b¹	protein kinase C and casein kinase substrate in neurons more	74.81(n) 76.47(a)		619246 NM_001033728.1 NP_001028900.1
fruit fly (Drosophila melanogaster)	Insecta	Synd⁶	Syndapin	38(a)	1 → many	3R(16658507-16665840)
worm (Caenorhabditis elegans)	Secernentea	F45E1.7³	--	30(a)		X(8024443-8028056) --

ENSEMBL Gene Tree for PACSIN1 (if available)
TreeFam Gene Tree for PACSIN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PACSIN1 gene

PACSIN2² PACSIN3²

6 SIMAP similar genes for PACSIN1 using alignment to 4 protein entries: PACN1_HUMAN (see all proteins):

PACSIN2 PACSIN3 SH3GL1 ARHGEF7 SH3GL2 ITSN1

PACSIN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75344358^1,2	C,F	--	34431846(+)	`GATGGC/TCTAAA`	1	--	us2k¹		1		NA	120
rs192404974^1,2		--	34431858(+)	`CAGAGC/TCTTAT`	1	--	us2k¹		0	--	--	--	--
rs184306020^1,2		--	34432041(+)	`ATTGCC/TCTGGG`	1	--	us2k¹		0	--	--	--	--
rs147213964^1,2		--	34432223(+)	`CAATCC/TCTACA`	1	--	us2k¹		0	--	--	--	--
rs188579412^1,2		--	34432355(+)	`GGAGTC/TTCGCT`	1	--	us2k¹		0	--	--	--	--
rs191486504^1,2		--	34432367(+)	`TGTCGC/TCCAGG`	1	--	us2k¹		0	--	--	--	--
rs183955290^1,2		--	34432540(+)	`GGATGA/GTCTCG`	1	--	us2k¹		0	--	--	--	--
rs9469789^1,2	C	--	34432734(+)	`GATCAT/CCTGAG`	1	--	us2k¹		3		NA	6
rs189072906^1,2		--	34432750(+)	`GAGTTC/TGAGAC`	1	--	us2k¹		0	--	--	--	--
rs62398681^1,2	C	--	34432883(+)	`GGAGGT/CGGAGG`	1	--	us2k¹		2		NA CSA	3

HapMap Linkage Disequilibrium report for PACSIN1 (34433905 - 34503006 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PACSIN1
1 CNV: 3605

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PACSIN1 for disorders           About GeneDecksing

OMIM gene information: 606512    OMIM disorders: --

3 diseases for PACSIN1:    About MalaCards

wiskott-aldrich syndrome neuronitis huntington's disease

1 disease from the University of Copenhagen DISEASES database for PACSIN1:

Huntington's disease

Human Genome Epidemiology (HuGE) Navigator: PACSIN1 (1 document)

Export disorders for PACSIN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PACSIN1 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with PACSIN1)

Utopia: connect your pdf to the dynamic
world of online information

PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (PubMed id 11179684)^{1, 2, 3} Sumoy L.... Escarceller M. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)^{1, 2} Nagase T.... Ohara O. (2000)
Phosphorylation of syndapin I F-BAR domain at two heli x-capping motifs regulates membrane tubulation. (PubMed id 22355135)¹ Quan A....Robinson P.J. (2012)
Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)¹ Asbach B....Wagner R. (2012)
PACSIN1 regulates the TLR7/9-mediated type I interfero n response in plasmacytoid dendritic cells. (PubMed id 22488361)¹ Esashi E....Liu Y.J. (2012)
Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)¹ Lee O.H....Songyang Z. (2011)
Crystallization and preliminary X-ray crystallographi c analysis of human PACSIN 1 protein. (PubMed id 20057076)¹ Bai X....Zheng X. (2010)
A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 29993	HGNC: 8570	AceView: PACSIN1	Ensembl:ENSG00000124507	euGenes: HUgn29993
ECgene: PACSIN1	H-InvDB: PACSIN1

(According to HUGE)
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HUGE: KIAA1379

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PACSIN1	Pharmacogenomics, SNPs, Pathways

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Patent Information for PACSIN1 gene:
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