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Q9BY11

- PACN1_HUMAN

UniProt

Q9BY11 - PACN1_HUMAN

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Protein

Protein kinase C and casein kinase substrate in neurons protein 1

Gene

PACSIN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation.By similarity3 Publications

GO - Molecular functioni

  1. phospholipid binding Source: UniProtKB

GO - Biological processi

  1. actin filament organization Source: InterPro
  2. establishment of protein localization to plasma membrane Source: BHF-UCL
  3. membrane tubulation Source: UniProtKB
  4. neuron projection morphogenesis Source: UniProtKB
  5. positive regulation of dendrite development Source: BHF-UCL
  6. protein localization to membrane Source: UniProtKB
  7. synaptic vesicle endocytosis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Endocytosis

Keywords - Ligandi

Lipid-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kinase C and casein kinase substrate in neurons protein 1
Alternative name(s):
Syndapin-1
Gene namesi
Name:PACSIN1
Synonyms:KIAA1379
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:8570. PACSIN1.

Subcellular locationi

Cytoplasm By similarity. Cell projection By similarity. Cell junctionsynapsesynaptosome By similarity. Cell projectionruffle membrane By similarity. Membrane; Peripheral membrane protein. Cytoplasmic vesicle membrane By similarity; Peripheral membrane protein By similarity. Cell junctionsynapse By similarity. Cytoplasmcytosol By similarity. Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Note: Colocalizes with MAPT in axons. 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). Associates with membranes via its F-BAR domain.By similarity

GO - Cellular componenti

  1. axon terminus Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. cytoplasm Source: LIFEdb
  4. cytoplasmic vesicle Source: UniProtKB-KW
  5. perinuclear region of cytoplasm Source: BHF-UCL
  6. plasma membrane Source: BHF-UCL
  7. ruffle membrane Source: UniProtKB
  8. synapse Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoplasmic vesicle, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi125 – 1251I → E: Reduces membrane-binding. Abolishes membrane tubulation. 1 Publication
Mutagenesisi126 – 1261M → E: Reduces membrane-binding. Abolishes membrane tubulation. 1 Publication

Organism-specific databases

PharmGKBiPA32896.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 444444Protein kinase C and casein kinase substrate in neurons protein 1PRO_0000161792Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei79 – 791PhosphoserineBy similarity
Modified residuei184 – 1841PhosphothreonineBy similarity
Modified residuei394 – 3941PhosphotyrosineBy similarity

Post-translational modificationi

Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC).Curated

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BY11.
PaxDbiQ9BY11.
PRIDEiQ9BY11.

PTM databases

PhosphoSiteiQ9BY11.

Expressioni

Tissue specificityi

Highly expressed in brain and, at much lower levels, in heart and pancreas.1 Publication

Gene expression databases

BgeeiQ9BY11.
CleanExiHS_PACSIN1.
ExpressionAtlasiQ9BY11. baseline and differential.
GenevestigatoriQ9BY11.

Organism-specific databases

HPAiCAB009929.
HPA028852.
HPA055491.

Interactioni

Subunit structurei

May form heterooligomers with other PACSINs. Interacts with MAPT. Interacts with TRPV4 (By similarity). Interacts (via SH3 domain) with SYNJ1 and WASL. Interacts with DNM2 and DNM3. Interacts with both COBL and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with EHD1 and EHD3 (By similarity). Homodimer. Interacts (via SH3 domain) with DNM1; the interaction is reduced by DNM1 phosphorylation.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FASLGP480234EBI-721769,EBI-495538
HTTP428583EBI-721769,EBI-466029

Protein-protein interaction databases

BioGridi119018. 35 interactions.
IntActiQ9BY11. 18 interactions.
MINTiMINT-4538742.
STRINGi9606.ENSP00000244458.

Structurei

Secondary structure

1
444
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni22 – 254Combined sources
Helixi26 – 7348Combined sources
Helixi78 – 10730Combined sources
Helixi109 – 12012Combined sources
Beta strandi127 – 1293Combined sources
Helixi130 – 17041Combined sources
Turni176 – 1794Combined sources
Helixi193 – 25664Combined sources
Helixi258 – 2603Combined sources
Turni262 – 2643Combined sources
Helixi265 – 27511Combined sources
Helixi280 – 29112Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3HAHX-ray2.77A/B1-325[»]
3HAIX-ray2.88A/B/C/D1-308[»]
3Q84X-ray2.80A/B/G/H/M/N14-308[»]
3QNIX-ray2.80A/B1-307[»]
ProteinModelPortaliQ9BY11.
SMRiQ9BY11. Positions 15-308, 388-443.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BY11.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini13 – 7664FCHPROSITE-ProRule annotationAdd
BLAST
Domaini385 – 44460SH3PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 307307F-BAR domainAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili26 – 275250Add
BLAST

Domaini

The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR domain. DNM1 binding abolishes autoinhibition (By similarity).By similarity

Sequence similaritiesi

Belongs to the PACSIN family.Curated
Contains 1 FCH domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiNOG283356.
GeneTreeiENSGT00510000046376.
HOGENOMiHOG000007245.
HOVERGENiHBG053486.
InParanoidiQ9BY11.
OMAiAMTREAN.
OrthoDBiEOG75TMBJ.
PhylomeDBiQ9BY11.
TreeFamiTF313677.

Family and domain databases

InterProiIPR001060. FCH_dom.
IPR028518. PACSIN1.
IPR001452. SH3_domain.
[Graphical view]
PANTHERiPTHR10959:SF7. PTHR10959:SF7. 1 hit.
PfamiPF00611. FCH. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00055. FCH. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50133. FCH. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BY11-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSSSYDEASL APEETTDSFW EVGNYKRTVK RIDDGHRLCN DLMNCVQERA
60 70 80 90 100
KIEKAYGQQL TDWAKRWRQL IEKGPQYGSL ERAWGAIMTE ADKVSELHQE
110 120 130 140 150
VKNNLLNEDL EKVKNWQKDA YHKQIMGGFK ETKEAEDGFR KAQKPWAKKM
160 170 180 190 200
KELEAAKKAY HLACKEEKLA MTREMNSKTE QSVTPEQQKK LQDKVDKCKQ
210 220 230 240 250
DVQKTQEKYE KVLEDVGKTT PQYMENMEQV FEQCQQFEEK RLVFLKEVLL
260 270 280 290 300
DIKRHLNLAE NSSYIHVYRE LEQAIRGADA QEDLRWFRST SGPGMPMNWP
310 320 330 340 350
QFEEWNPDLP HTTTKKEKQP KKAEGVALTN ATGAVESTSQ AGDRGSVSSY
360 370 380 390 400
DRGQPYATEW SDDESGNPFG GSETNGGANP FEDDSKGVRV RALYDYDGQE
410 420 430 440
QDELSFKAGD ELTKLGEEDE QGWCRGRLDS GQLGLYPANY VEAI
Length:444
Mass (Da):50,966
Last modified:June 1, 2001 - v1
Checksum:i6AAF801873770975
GO

Sequence cautioni

The sequence BAA92617.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti334 – 3341A → V.
Corresponds to variant rs41312309 [ dbSNP | Ensembl ].
VAR_053554

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF242529 mRNA. Translation: AAK29206.1.
AB037800 mRNA. Translation: BAA92617.2. Different initiation.
AL834211 mRNA. Translation: CAD38895.1.
BC040228 mRNA. Translation: AAH40228.1.
CCDSiCCDS4793.1.
RefSeqiNP_001186512.1. NM_001199583.2.
NP_065855.1. NM_020804.4.
UniGeneiHs.520087.

Genome annotation databases

EnsembliENST00000244458; ENSP00000244458; ENSG00000124507.
ENST00000538621; ENSP00000439639; ENSG00000124507.
ENST00000620693; ENSP00000484060; ENSG00000124507.
GeneIDi29993.
KEGGihsa:29993.
UCSCiuc003ojo.4. human.

Polymorphism databases

DMDMi22256962.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF242529 mRNA. Translation: AAK29206.1 .
AB037800 mRNA. Translation: BAA92617.2 . Different initiation.
AL834211 mRNA. Translation: CAD38895.1 .
BC040228 mRNA. Translation: AAH40228.1 .
CCDSi CCDS4793.1.
RefSeqi NP_001186512.1. NM_001199583.2.
NP_065855.1. NM_020804.4.
UniGenei Hs.520087.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3HAH X-ray 2.77 A/B 1-325 [» ]
3HAI X-ray 2.88 A/B/C/D 1-308 [» ]
3Q84 X-ray 2.80 A/B/G/H/M/N 14-308 [» ]
3QNI X-ray 2.80 A/B 1-307 [» ]
ProteinModelPortali Q9BY11.
SMRi Q9BY11. Positions 15-308, 388-443.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119018. 35 interactions.
IntActi Q9BY11. 18 interactions.
MINTi MINT-4538742.
STRINGi 9606.ENSP00000244458.

PTM databases

PhosphoSitei Q9BY11.

Polymorphism databases

DMDMi 22256962.

Proteomic databases

MaxQBi Q9BY11.
PaxDbi Q9BY11.
PRIDEi Q9BY11.

Protocols and materials databases

DNASUi 29993.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000244458 ; ENSP00000244458 ; ENSG00000124507 .
ENST00000538621 ; ENSP00000439639 ; ENSG00000124507 .
ENST00000620693 ; ENSP00000484060 ; ENSG00000124507 .
GeneIDi 29993.
KEGGi hsa:29993.
UCSCi uc003ojo.4. human.

Organism-specific databases

CTDi 29993.
GeneCardsi GC06P037285.
HGNCi HGNC:8570. PACSIN1.
HPAi CAB009929.
HPA028852.
HPA055491.
MIMi 606512. gene.
neXtProti NX_Q9BY11.
PharmGKBi PA32896.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283356.
GeneTreei ENSGT00510000046376.
HOGENOMi HOG000007245.
HOVERGENi HBG053486.
InParanoidi Q9BY11.
OMAi AMTREAN.
OrthoDBi EOG75TMBJ.
PhylomeDBi Q9BY11.
TreeFami TF313677.

Miscellaneous databases

EvolutionaryTracei Q9BY11.
GeneWikii PACSIN1.
GenomeRNAii 29993.
NextBioi 52788.
PROi Q9BY11.
SOURCEi Search...

Gene expression databases

Bgeei Q9BY11.
CleanExi HS_PACSIN1.
ExpressionAtlasi Q9BY11. baseline and differential.
Genevestigatori Q9BY11.

Family and domain databases

InterProi IPR001060. FCH_dom.
IPR028518. PACSIN1.
IPR001452. SH3_domain.
[Graphical view ]
PANTHERi PTHR10959:SF7. PTHR10959:SF7. 1 hit.
Pfami PF00611. FCH. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view ]
PRINTSi PR00452. SH3DOMAIN.
SMARTi SM00055. FCH. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50133. FCH. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family."
    Sumoy L., Pluvinet R., Andreu N., Estivill X., Escarceller M.
    Gene 262:199-205(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "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."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Amygdala.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "Versatile membrane deformation potential of activated pacsin."
    Goh S.L., Wang Q., Byrnes L.J., Sondermann H.
    PLoS ONE 7:E51628-E51628(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH DNM1, SUBCELLULAR LOCATION, DOMAIN.
  7. "Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin."
    Wang Q., Navarro M.V., Peng G., Molinelli E., Goh S.L., Judson B.L., Rajashankar K.R., Sondermann H.
    Proc. Natl. Acad. Sci. U.S.A. 106:12700-12705(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.77 ANGSTROMS) OF 1-325, FUNCTION, LIPID-BINDING, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-125 AND MET-126, DOMAIN.
  8. "Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules."
    Bai X., Meng G., Luo M., Zheng X.
    J. Biol. Chem. 287:22387-22396(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 14-308, FUNCTION, DOMAIN.

Entry informationi

Entry nameiPACN1_HUMAN
AccessioniPrimary (citable) accession number: Q9BY11
Secondary accession number(s): Q9P2G8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: June 1, 2001
Last modified: November 26, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3