NRCAM
entrez
4897
canonical
uniprot
Q92823
canonical
ensembl
ENSG00000091129
resolver
ensp
ENSP00000325269
resolver
ensp
ENSP00000368310
resolver
ensp
ENSP00000368314
resolver
ensp
ENSP00000407858
resolver
ensp
ENSP00000548927
resolver
ensp
ENSP00000548928
resolver
ensp
ENSP00000548930
resolver
ensp
ENSP00000548931
resolver
ensp
ENSP00000548933
resolver
ensp
ENSP00000548935
resolver
ensp
ENSP00000623322
resolver
ensp
ENSP00000623323
resolver
ensp
ENSP00000623324
resolver
ensp
ENSP00000623325
resolver
ensp
ENSP00000623326
resolver
ensp
ENSP00000623327
resolver
ensp
ENSP00000646704
resolver
ensp
ENSP00000698803
resolver
enst
ENST00000413765
resolver
genesymbol
NRCAM
resolver
genesymbol_syn
KIAA0343
resolver
hgnc
HGNC:7994
resolver
uniprot
A0A1S5UZH4
resolver
uniprot
A4D0S3
resolver
uniprot
B7Z670
resolver
uniprot
C9JYY6
resolver
uniprot
E9PDA4
resolver
uniprot
O15051
resolver
uniprot
O15179
resolver
uniprot
Q14BM2
resolver
uniprot
Q14CA1
resolver
uniprot
Q9UHI3
resolver
uniprot
Q9UHI4
resolver
uniprot_entry
A0A1S5UZH4_HUMAN
resolver
uniprot_entry
B7Z670_HUMAN
resolver
uniprot_entry
C9JYY6_HUMAN
resolver
uniprot_entry
NRCAM_HUMAN
resolver
uniprot_entry
Q14CA1_HUMAN
resolver
uniprot_sec
A4D0S3
resolver
uniprot_sec
E9PDA4
resolver
uniprot_sec
O15051
resolver
uniprot_sec
O15179
resolver
uniprot_sec
Q14BM2
resolver
uniprot_sec
Q9UHI3
resolver
uniprot_sec
Q9UHI4
resolver
amino_acid_sequence
MQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQPPTITQQSPKDYIIDPRENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTLIINIMSEGKAETYEGVYQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFWMDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVISVDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTPIIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRVKAAPYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFSNVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFGSPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHLEIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDHLVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVAPTPTPAPVYDVPNPPFDLELTDQLDKSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFRVMAVNSIGKSLPSEASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGLQYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEPAVVMGHSGEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIEKKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPASPDRVFNTPEGVPSAPSSLKIVNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNFSTRYKFYFYAQTSAGSGSQITEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAETYANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVGDSGFVSSEDVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPVKEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGEGVNGQFNEDGSFIGQYSGKKEKEPAEGNESSEAPSPVNAMNSFV
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) [MIM:619833]: An autosomal recessive disorder characterized by developmental delay apparent from infancy or early childhood, intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity. Disease severity is highly variable. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, behavioral abnormalities, and non-specific findings on brain imaging. {ECO:0000269|PubMed:35108495}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier. {ECO:0000250|UniProtKB:Q810U4}.
uniprot
proteins
mass_dalton
143890
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
L1/neurofascin/NgCAM family
uniprot
proteins
pubmed
11483367
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
23897819
uniprot
proteins
pubmed
35108495
uniprot
proteins
pubmed
8812479
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1304
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q810U4}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q810U4}. Cell projection, axon {ECO:0000250|UniProtKB:Q810U4}. Secreted {ECO:0000250|UniProtKB:Q810U4}. Note=Detected at nodes of Ranvier. {ECO:0000250|UniProtKB:Q810U4}.
uniprot
proteins
transmembrane_region
TRANSMEM 1168..1190; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins