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UniProtKB - P78357 (CNTP1_HUMAN)

Protein

Contactin-associated protein 1

Gene

CNTNAP1

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

Functioni

Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.3 Publications

GO - Molecular functioni

  • SH3/SH2 adaptor activity Source: ProtInc
  • SH3 domain binding Source: BHF-UCL
  • signaling receptor activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-447043 Neurofascin interactions
SignaLinkiP78357

Names & Taxonomyi

Protein namesi
Recommended name:
Contactin-associated protein 1
Short name:
Caspr
Short name:
Caspr1
Alternative name(s):
Neurexin IV
Neurexin-4
p190
Gene namesi
Name:CNTNAP1
Synonyms:CASPR, NRXN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108797.11
HGNCiHGNC:8011 CNTNAP1
MIMi602346 gene
neXtProtiNX_P78357

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 1283ExtracellularSequence analysisAdd BLAST1264
Transmembranei1284 – 1304HelicalSequence analysisAdd BLAST21
Topological domaini1305 – 1384CytoplasmicSequence analysisAdd BLAST80

Keywords - Cellular componenti

Cell junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Lethal congenital contracture syndrome 7 (LCCS7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period.
See also OMIM:616286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078818323C → R in LCCS7. 1 PublicationCorresponds to variant dbSNP:rs768554986EnsemblClinVar.1
Natural variantiVAR_078820623 – 1384Missing in LCCS7; also found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST762
Natural variantiVAR_078822672 – 1384Missing in LCCS7. 1 PublicationAdd BLAST713
Defects in CNTNAP1 are associated with congenital hypomyelinating neuropathy (CHN). Patients show polyhydramnios and reduced fetal movements, they were hypotonic and required ventilatory support at birth. But no arthrogryposis is noted. Patients die often early in the neonatal period.3 Publications

Organism-specific databases

DisGeNETi8506
MalaCardsiCNTNAP1
MIMi616286 phenotype
OpenTargetsiENSG00000108797
Orphaneti2680 Hypomyelination neuropathy - arthrogryposis
PharmGKBiPA26691

Polymorphism and mutation databases

BioMutaiCNTNAP1
DMDMi17433016

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000001950320 – 1384Contactin-associated protein 1Add BLAST1365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi25 ↔ 168By similarity
Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi323 ↔ 355By similarity
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi499N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi506 ↔ 538By similarity
Glycosylationi518N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi544 ↔ 555By similarity
Disulfide bondi549 ↔ 564By similarity
Disulfide bondi566 ↔ 576By similarity
Glycosylationi597N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi653N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi664N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi763N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi804N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi843N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi860N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi930 ↔ 957By similarity
Glycosylationi948N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi956N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi961 ↔ 974By similarity
Disulfide bondi968 ↔ 983By similarity
Disulfide bondi985 ↔ 995By similarity
Glycosylationi1078N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1147N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1209 ↔ 1250By similarity
Modified residuei1383PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP78357
MaxQBiP78357
PaxDbiP78357
PeptideAtlasiP78357
PRIDEiP78357
ProteomicsDBi57588

PTM databases

iPTMnetiP78357
PhosphoSitePlusiP78357

Expressioni

Tissue specificityi

Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.

Gene expression databases

BgeeiENSG00000108797 Expressed in 167 organ(s), highest expression level in frontal cortex
CleanExiHS_CNTNAP1
ExpressionAtlasiP78357 baseline and differential
GenevisibleiP78357 HS

Organism-specific databases

HPAiHPA011772

Interactioni

Subunit structurei

Interacts with CNTN1/contactin in cis form.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1751903,EBI-389883

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi114078, 15 interactors
CORUMiP78357
IntActiP78357, 11 interactors
MINTiP78357
STRINGi9606.ENSP00000264638

Structurei

3D structure databases

ProteinModelPortaliP78357
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini25 – 168F5/8 type CPROSITE-ProRule annotationAdd BLAST144
Domaini203 – 355Laminin G-like 1PROSITE-ProRule annotationAdd BLAST153
Domaini389 – 538Laminin G-like 2PROSITE-ProRule annotationAdd BLAST150
Domaini540 – 577EGF-like 1PROSITE-ProRule annotationAdd BLAST38
Domaini576 – 795Fibrinogen C-terminalPROSITE-ProRule annotationAdd BLAST220
Domaini813 – 956Laminin G-like 3PROSITE-ProRule annotationAdd BLAST144
Domaini957 – 996EGF-like 2PROSITE-ProRule annotationAdd BLAST40
Domaini1088 – 1250Laminin G-like 4PROSITE-ProRule annotationAdd BLAST163

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1328 – 1369SH3-bindingSequence analysisAdd BLAST42

Sequence similaritiesi

Belongs to the neurexin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, SH3-binding, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3516 Eukaryota
ENOG410XPHG LUCA
GeneTreeiENSGT00760000118991
HOGENOMiHOG000230964
HOVERGENiHBG057718
InParanoidiP78357
KOiK07379
OMAiRHDLHYH
OrthoDBiEOG091G00LF
PhylomeDBiP78357
TreeFamiTF321823

Family and domain databases

CDDicd00057 FA58C, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR028872 Caspr1
IPR013320 ConA-like_dom_sf
IPR000742 EGF-like_dom
IPR000421 FA58C
IPR036056 Fibrinogen-like_C
IPR002181 Fibrinogen_a/b/g_C_dom
IPR008979 Galactose-bd-like_sf
IPR001791 Laminin_G
IPR003585 Neurexin-like
PANTHERiPTHR43925:SF5 PTHR43925:SF5, 1 hit
PfamiView protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF02210 Laminin_G_2, 4 hits
SMARTiView protein in SMART
SM00294 4.1m, 1 hit
SM00231 FA58C, 1 hit
SM00282 LamG, 4 hits
SUPFAMiSSF49785 SSF49785, 1 hit
SSF49899 SSF49899, 5 hits
SSF56496 SSF56496, 1 hit
PROSITEiView protein in PROSITE
PS50026 EGF_3, 2 hits
PS01285 FA58C_1, 1 hit
PS01286 FA58C_2, 1 hit
PS50022 FA58C_3, 1 hit
PS51406 FIBRINOGEN_C_2, 1 hit
PS50025 LAM_G_DOMAIN, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

P78357-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMHLRLFCIL LAAVSGAEGW GYYGCDEELV GPLYARSLGA SSYYSLLTAP 
        60         70         80         90        100
RFARLHGISG WSPRIGDPNP WLQIDLMKKH RIRAVATQGS FNSWDWVTRY 
       110        120        130        140        150
MLLYGDRVDS WTPFYQRGHN STFFGNVNES AVVRHDLHFH FTARYIRIVP 
       160        170        180        190        200
LAWNPRGKIG LRLGLYGCPY KADILYFDGD DAISYRFPRG VSRSLWDVFA 
       210        220        230        240        250
FSFKTEEKDG LLLHAEGAQG DYVTLELEGA HLLLHMSLGS SPIQPRPGHT 
       260        270        280        290        300
TVSAGGVLND QHWHYVRVDR FGRDVNFTLD GYVQRFILNG DFERLNLDTE 
       310        320        330        340        350
MFIGGLVGAA RKNLAYRHNF RGCIENVIFN RVNIADLAVR RHSRITFEGK 
       360        370        380        390        400
VAFRCLDPVP HPINFGGPHN FVQVPGFPRR GRLAVSFRFR TWDLTGLLLF 
       410        420        430        440        450
SRLGDGLGHV ELTLSEGQVN VSIAQSGRKK LQFAAGYRLN DGFWHEVNFV 
       460        470        480        490        500
AQENHAVISI DDVEGAEVRV SYPLLIRTGT SYFFGGCPKP ASRWDCHSNQ 
       510        520        530        540        550
TAFHGCMELL KVDGQLVNLT LVEGRRLGFY AEVLFDTCGI TDRCSPNMCE 
       560        570        580        590        600
HDGRCYQSWD DFICYCELTG YKGETCHTPL YKESCEAYRL SGKTSGNFTI 
       610        620        630        640        650
DPDGSGPLKP FVVYCDIREN RAWTVVRHDR LWTTRVTGSS MERPFLGAIQ 
       660        670        680        690        700
YWNASWEEVS ALANASQHCE QWIEFSCYNS RLLNTAGGYP YSFWIGRNEE 
       710        720        730        740        750
QHFYWGGSQP GIQRCACGLD RSCVDPALYC NCDADQPQWR TDKGLLTFVD 
       760        770        780        790        800
HLPVTQVVIG DTNRSTSEAQ FFLRPLRCYG DRNSWNTISF HTGAALRFPP 
       810        820        830        840        850
IRANHSLDVS FYFRTSAPSG VFLENMGGPY CQWRRPYVRV ELNTSRDVVF 
       860        870        880        890        900
AFDVGNGDEN LTVHSDDFEF NDDEWHLVRA EINVKQARLR VDHRPWVLRP 
       910        920        930        940        950
MPLQTYIWME YDQPLYVGSA ELKRRPFVGC LRAMRLNGVT LNLEGRANAS 
       960        970        980        990       1000
EGTSPNCTGH CAHPRLPCFH GGRCVERYSY YTCDCDLTAF DGPYCNHDIG 
      1010       1020       1030       1040       1050
GFFEPGTWMR YNLQSALRSA AREFSHMLSR PVPGYEPGYI PGYDTPGYVP 
      1060       1070       1080       1090       1100
GYHGPGYRLP DYPRPGRPVP GYRGPVYNVT GEEVSFSFST SSAPAVLLYV 
      1110       1120       1130       1140       1150
SSFVRDYMAV LIKDDGTLQL RYQLGTSPYV YQLTTRPVTD GQPHSINITR 
      1160       1170       1180       1190       1200
VYRNLFIQVD YFPLTEQKFS LLVDSQLDSP KALYLGRVME TGVIDPEIQR 
      1210       1220       1230       1240       1250
YNTPGFSGCL SGVRFNNVAP LKTHFRTPRP MTAELAEALR VQGELSESNC 
      1260       1270       1280       1290       1300
GAMPRLVSEV PPELDPWYLP PDFPYYHDEG WVAILLGFLV AFLLLGLVGM 
      1310       1320       1330       1340       1350
LVLFYLQNHR YKGSYHTNEP KAAHEYHPGS KPPLPTSGPA QVPTPTAAPN 
      1360       1370       1380 
QAPASAPAPA PTPAPAPGPR DQNLPQILEE SRSE
Length:1,384
Mass (Da):156,267
Last modified:May 1, 1997 - v1
Checksum:i7727A13DF626DDCA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EMM9K7EMM9_HUMAN
Contactin-associated protein 1
CNTNAP1
740Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078818323C → R in LCCS7. 1 PublicationCorresponds to variant dbSNP:rs768554986EnsemblClinVar.1
Natural variantiVAR_078819388R → P Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 1 PublicationCorresponds to variant dbSNP:rs779027563EnsemblClinVar.1
Natural variantiVAR_050267522V → L. Corresponds to variant dbSNP:rs35437096Ensembl.1
Natural variantiVAR_078820623 – 1384Missing in LCCS7; also found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST762
Natural variantiVAR_078821671 – 1384Missing Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST714
Natural variantiVAR_078822672 – 1384Missing in LCCS7. 1 PublicationAdd BLAST713
Natural variantiVAR_078823764R → C Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsCorresponds to variant dbSNP:rs761805324Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U87223 mRNA Translation: AAB48481.1
CCDSiCCDS11436.1
RefSeqiNP_003623.1, NM_003632.2
XP_016880727.1, XM_017025238.1
UniGeneiHs.408730

Genome annotation databases

EnsembliENST00000264638; ENSP00000264638; ENSG00000108797
GeneIDi8506
KEGGihsa:8506
UCSCiuc002iay.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCNTP1_HUMAN
AccessioniPrimary (citable) accession number: P78357
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 1997
Last modified: September 12, 2018
This is version 168 of the entry and version 1 of the sequence. See 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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