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Protein

Contactin-associated protein 1

Gene

CNTNAP1

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

Functioni

Seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction. In association with contactin may have a role in the signaling between axons and myelinating glial cells.

GO - Molecular functioni

  • receptor activity Source: ProtInc
  • SH3/SH2 adaptor activity Source: ProtInc
  • SH3 domain binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108797-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:8011. CNTNAP1.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Lethal congenital contracture syndrome 7 (LCCS7)1 Publication
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

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP78357.
MaxQBiP78357.
PaxDbiP78357.
PeptideAtlasiP78357.
PRIDEiP78357.

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.
CleanExiHS_CNTNAP1.
ExpressionAtlasiP78357. baseline and differential.
GenevisibleiP78357. HS.

Organism-specific databases

HPAiHPA011772.

Interactioni

Subunit structurei

Interacts with contactin in cis form.1 Publication

Binary interactionsi

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

GO - Molecular functioni

  • SH3/SH2 adaptor activity Source: ProtInc
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi114078. 12 interactors.
IntActiP78357. 11 interactors.
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
Contains 2 EGF-like domains.PROSITE-ProRule annotation
Contains 1 F5/8 type C domain.PROSITE-ProRule annotation
Contains 1 fibrinogen C-terminal domain.PROSITE-ProRule annotation
Contains 4 laminin G-like domains.PROSITE-ProRule annotation

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

Gene3Di2.60.120.200. 5 hits.
2.60.120.260. 1 hit.
3.90.215.10. 1 hit.
InterProiIPR028872. Caspr1.
IPR013320. ConA-like_dom.
IPR000742. EGF-like_dom.
IPR000421. FA58C.
IPR014716. Fibrinogen_a/b/g_C_1.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
[Graphical view]
PANTHERiPTHR10127:SF4. PTHR10127:SF4. 2 hits.
PfamiPF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTiSM00294. 4.1m. 1 hit.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 5 hits.
SSF56496. SSF56496. 1 hit.
PROSITEiPS50026. 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.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050267522V → L.Corresponds to variant rs35437096dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP78357.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114078. 12 interactors.
IntActiP78357. 11 interactors.
STRINGi9606.ENSP00000264638.

PTM databases

iPTMnetiP78357.
PhosphoSitePlusiP78357.

Polymorphism and mutation databases

BioMutaiCNTNAP1.
DMDMi17433016.

Proteomic databases

EPDiP78357.
MaxQBiP78357.
PaxDbiP78357.
PeptideAtlasiP78357.
PRIDEiP78357.

Protocols and materials databases

DNASUi8506.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8506.
DisGeNETi8506.
GeneCardsiCNTNAP1.
HGNCiHGNC:8011. CNTNAP1.
HPAiHPA011772.
MalaCardsiCNTNAP1.
MIMi602346. gene.
616286. phenotype.
neXtProtiNX_P78357.
OpenTargetsiENSG00000108797.
Orphaneti2680. Hypomyelination neuropathy - arthrogryposis.
PharmGKBiPA26691.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108797-MONOMER.
ReactomeiR-HSA-447043. Neurofascin interactions.
SignaLinkiP78357.

Miscellaneous databases

ChiTaRSiCNTNAP1. human.
GenomeRNAii8506.
PROiP78357.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108797.
CleanExiHS_CNTNAP1.
ExpressionAtlasiP78357. baseline and differential.
GenevisibleiP78357. HS.

Family and domain databases

Gene3Di2.60.120.200. 5 hits.
2.60.120.260. 1 hit.
3.90.215.10. 1 hit.
InterProiIPR028872. Caspr1.
IPR013320. ConA-like_dom.
IPR000742. EGF-like_dom.
IPR000421. FA58C.
IPR014716. Fibrinogen_a/b/g_C_1.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
[Graphical view]
PANTHERiPTHR10127:SF4. PTHR10127:SF4. 2 hits.
PfamiPF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTiSM00294. 4.1m. 1 hit.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 5 hits.
SSF56496. SSF56496. 1 hit.
PROSITEiPS50026. 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.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCNTP1_HUMAN
AccessioniPrimary (citable) accession number: P78357
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 1997
Last modified: November 2, 2016
This is version 155 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.