Gene

cntnap1

ID
ZDB-GENE-030916-2
Name
contactin associated protein 1
Symbol
cntnap1 Nomenclature History
Previous Names
  • caspr1
  • si:ch211-250i3.4
  • zmp:0000000749
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity. Predicted to be involved in paranodal junction assembly. Predicted to localize to integral component of membrane; paranodal junction; and paranode region of axon. Is expressed in posterior lateral line nerve. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome and neuromuscular disease. Orthologous to human CNTNAP1 (contactin associated protein 1).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Figure 7 from Klingseisen et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cntnap1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hypomyelinating neuropathy, congenital, 3 618186
Lethal congenital contracture syndrome 7 616286
Associated With cntnap1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000421 Coagulation factor 5/8 C-terminal domain
Domain IPR000742 EGF-like domain
Domain IPR001791 Laminin G domain
Domain IPR001881 EGF-like calcium-binding domain
Domain IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
Domain IPR003585 Neurexin/syndecan/glycophorin C
Family IPR028872 Contactin-associated protein 1
Homologous_superfamily IPR008979 Galactose-binding-like domain superfamily
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR014716 Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
Homologous_superfamily IPR036056 Fibrinogen-like, C-terminal
PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
Domain Details Per Protein
Protein Length Coagulation factor 5/8 C-terminal domain Concanavalin A-like lectin/glucanase domain superfamily Contactin-associated protein 1 EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 Fibrinogen-like, C-terminal Galactose-binding-like domain superfamily Laminin G domain Neurexin/syndecan/glycophorin C
UniProtKB:X1WGG7 1309
UniProtKB:A0A2R8QP42 721
UniProtKB:F1QPX5 1297
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations