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Entry version 184 (18 Sep 2019)
Sequence version 3 (25 Nov 2008)
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Protein

Neuronal cell adhesion molecule

Gene

NRCAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-447038 NrCAM interactions
R-HSA-447043 Neurofascin interactions

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neuronal cell adhesion molecule
Short name:
Nr-CAM
Alternative name(s):
Neuronal surface protein Bravo1 Publication
Short name:
hBravo1 Publication
NgCAM-related cell adhesion molecule
Short name:
Ng-CAM-related
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NRCAM
Synonyms:KIAA0343
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7994 NRCAM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601581 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92823

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini25 – 1167ExtracellularSequence analysisAdd BLAST1143
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1168 – 1190HelicalSequence analysisAdd BLAST23
Topological domaini1191 – 1304CytoplasmicSequence analysisAdd BLAST114

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
4897

Open Targets

More...
OpenTargetsi
ENSG00000091129

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31773

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NRCAM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274127

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001505725 – 1304Neuronal cell adhesion moleculeAdd BLAST1280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi68 ↔ 123PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi167 ↔ 218PROSITE-ProRule annotation
Glycosylationi223N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi245N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi276N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi292 ↔ 340PROSITE-ProRule annotation
Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi382 ↔ 432PROSITE-ProRule annotation
Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi476 ↔ 525PROSITE-ProRule annotation
Glycosylationi507N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi567 ↔ 616PROSITE-ProRule annotation
Glycosylationi619N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi716N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi802N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi858N-linked (GlcNAc...) (complex) asparagine1 Publication1
Glycosylationi993N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1009N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1019N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1072N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1083N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1115N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1221PhosphothreonineBy similarity1
Modified residuei1225PhosphotyrosineBy similarity1
Modified residuei1226PhosphoserineBy similarity1
Modified residuei1251PhosphoserineBy similarity1
Modified residuei1254PhosphoserineBy similarity1
Modified residuei1271PhosphoserineBy similarity1
Modified residuei1290PhosphoserineBy similarity1
Modified residuei1291PhosphoserineBy similarity1
Modified residuei1295PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q92823

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q92823

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q92823

PeptideAtlas

More...
PeptideAtlasi
Q92823

PRoteomics IDEntifications database

More...
PRIDEi
Q92823

ProteomicsDB human proteome resource

More...
ProteomicsDBi
19619
75497 [Q92823-1]
75498 [Q92823-2]
75499 [Q92823-3]
75500 [Q92823-4]
75501 [Q92823-5]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
821

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92823

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q92823

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q92823

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
Q92823

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000091129 Expressed in 186 organ(s), highest expression level in middle temporal gyrus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q92823 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q92823 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA012606

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Constituent of a NFASC/NRCAM/ankyrin-G complex. Detected in a complex with CNTN1 and PTPRB.

Interacts with GLDN/gliomedin (By similarity).

Interacts with MYOC (PubMed:23897819).

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110953, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q92823, 6 interactors

Molecular INTeraction database

More...
MINTi
Q92823

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368314

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11304
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q92823

Database of comparative protein structure models

More...
ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q92823

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini46 – 134Ig-like 1Add BLAST89
Domaini141 – 235Ig-like 2Add BLAST95
Domaini267 – 356Ig-like 3Add BLAST90
Domaini361 – 448Ig-like 4Add BLAST88
Domaini454 – 541Ig-like 5Add BLAST88
Domaini545 – 632Ig-like 6Add BLAST88
Domaini649 – 744Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST96
Domaini746 – 843Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST98
Domaini848 – 950Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST103
Domaini954 – 1051Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST98
Domaini1064 – 1156Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST93

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3513 Eukaryota
ENOG410XSVG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155419

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231380

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q92823

KEGG Orthology (KO)

More...
KOi
K06756

Identification of Orthologs from Complete Genome Data

More...
OMAi
YWIMAPQ

Database of Orthologous Groups

More...
OrthoDBi
434404at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92823

TreeFam database of animal gene trees

More...
TreeFami
TF351098

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 5 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 11 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR026966 Neurofascin/L1/NrCAM_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13882 Bravo_FIGEY, 1 hit
PF00041 fn3, 5 hits
PF07679 I-set, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00060 FN3, 5 hits
SM00409 IG, 6 hits
SM00408 IGc2, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 5 hits
PS50835 IG_LIKE, 6 hits
PS00290 IG_MHC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92823-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQLKIMPKKK RLSAGRVPLI LFLCQMISAL EVPLDPKLLE DLVQPPTITQ
60 70 80 90 100
QSPKDYIIDP RENIVIQCEA KGKPPPSFSW TRNGTHFDID KDPLVTMKPG
110 120 130 140 150
TGTLIINIMS EGKAETYEGV YQCTARNERG AAVSNNIVVR PSRSPLWTKE
160 170 180 190 200
KLEPITLQSG QSLVLPCRPP IGLPPPIIFW MDNSFQRLPQ SERVSQGLNG
210 220 230 240 250
DLYFSNVLPE DTREDYICYA RFNHTQTIQQ KQPISVKVIS VDELNDTIAA
260 270 280 290 300
NLSDTEFYGA KSSRERPPTF LTPEGNASNK EELRGNVLSL ECIAEGLPTP
310 320 330 340 350
IIYWAKEDGM LPKNRTVYKN FEKTLQIIHV SEADSGNYQC IAKNALGAIH
360 370 380 390 400
HTISVRVKAA PYWITAPQNL VLSPGEDGTL ICRANGNPKP RISWLTNGVP
410 420 430 440 450
IEIAPDDPSR KIDGDTIIFS NVQERSSAVY QCNASNEYGY LLANAFVNVL
460 470 480 490 500
AEPPRILTPA NTLYQVIANR PALLDCAFFG SPLPTIEWFK GAKGSALHED
510 520 530 540 550
IYVLHENGTL EIPVAQKDST GTYTCVARNK LGMAKNEVHL EIKDPTWIVK
560 570 580 590 600
QPEYAVVQRG SMVSFECKVK HDHTLSLTVL WLKDNRELPS DERFTVDKDH
610 620 630 640 650
LVVADVSDDD SGTYTCVANT TLDSVSASAV LSVVAPTPTP APVYDVPNPP
660 670 680 690 700
FDLELTDQLD KSVQLSWTPG DDNNSPITKF IIEYEDAMHK PGLWHHQTEV
710 720 730 740 750
SGTQTTAQLK LSPYVNYSFR VMAVNSIGKS LPSEASEQYL TKASEPDKNP
760 770 780 790 800
TAVEGLGSEP DNLVITWKPL NGFESNGPGL QYKVSWRQKD GDDEWTSVVV
810 820 830 840 850
ANVSKYIVSG TPTFVPYLIK VQALNDMGFA PEPAVVMGHS GEDLPMVAPG
860 870 880 890 900
NVRVNVVNST LAEVHWDPVP LKSIRGHLQG YRIYYWKTQS SSKRNRRHIE
910 920 930 940 950
KKILTFQGSK THGMLPGLEP FSHYTLNVRV VNGKGEGPAS PDRVFNTPEG
960 970 980 990 1000
VPSAPSSLKI VNPTLDSLTL EWDPPSHPNG ILTEYTLKYQ PINSTHELGP
1010 1020 1030 1040 1050
LVDLKIPANK TRWTLKNLNF STRYKFYFYA QTSAGSGSQI TEEAVTTVDE
1060 1070 1080 1090 1100
AGILPPDVGA GKVQAVNPRI SNLTAAAAET YANISWEYEG PEHVNFYVEY
1110 1120 1130 1140 1150
GVAGSKEEWR KEIVNGSRSF FGLKGLMPGT AYKVRVGAVG DSGFVSSEDV
1160 1170 1180 1190 1200
FETGPAMASR QVDIATQGWF IGLMCAVALL ILILLIVCFI RRNKGGKYPV
1210 1220 1230 1240 1250
KEKEDAHADP EIQPMKEDDG TFGEYSDAED HKPLKKGSRT PSDRTVKKED
1260 1270 1280 1290 1300
SDDSLVDYGE GVNGQFNEDG SFIGQYSGKK EKEPAEGNES SEAPSPVNAM

NSFV
Length:1,304
Mass (Da):143,890
Last modified:November 25, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1F2698BC7DB5C363
GO
Isoform 2 (identifier: Q92823-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1226-1236: SDAEDHKPLKK → RLFSFVSSASF
     1237-1304: Missing.

Show »
Length:1,236
Mass (Da):136,614
Checksum:i0C21479D02E6CCE2
GO
Isoform 3 (identifier: Q92823-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     241-259: Missing.
     1051-1155: Missing.

Note: No experimental confirmation available.
Show »
Length:1,180
Mass (Da):130,668
Checksum:iDF33D4380A609B75
GO
Isoform 4 (identifier: Q92823-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     35-40: Missing.
     635-644: Missing.
     1051-1155: Missing.

Note: No experimental confirmation available.
Show »
Length:1,183
Mass (Da):131,046
Checksum:iFEF6A39C50DE9664
GO
Isoform 5 (identifier: Q92823-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1225-1225: Y → YRSLE

Show »
Length:1,308
Mass (Da):144,375
Checksum:i7019F3533A0F445E
GO
Isoform 6 (identifier: Q92823-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     241-259: Missing.
     1063-1155: Missing.

Note: No experimental confirmation available.
Show »
Length:1,192
Mass (Da):131,744
Checksum:i0D9E6E1CDB666115
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYY6C9JYY6_HUMAN
Neuronal cell adhesion molecule
NRCAM
1,211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W775F8W775_HUMAN
Neuronal cell adhesion molecule
NRCAM
1,299Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C132H7C132_HUMAN
Neuronal cell adhesion molecule
NRCAM
190Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JH43C9JH43_HUMAN
Neuronal cell adhesion molecule
NRCAM
431Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X2B3A0A087X2B3_HUMAN
Neuronal cell adhesion molecule
NRCAM
771Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JF43C9JF43_HUMAN
Neuronal cell adhesion molecule
NRCAM
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J8B6C9J8B6_HUMAN
Neuronal cell adhesion molecule
NRCAM
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JUR7C9JUR7_HUMAN
Neuronal cell adhesion molecule
NRCAM
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC50765 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA20801 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti487E → Q in CAA04507 (Ref. 9) Curated1
Sequence conflicti512I → IKDATWIVKEI in AAC50765 (PubMed:8812479).Curated1
Sequence conflicti541 – 550Missing in AAC50765 (PubMed:8812479).Curated10
Sequence conflicti651F → L in CAA04507 (Ref. 9) Curated1
Sequence conflicti679 – 682KFII → TIHD in CAA04507 (Ref. 9) Curated4
Sequence conflicti710K → N in BAA20801 (PubMed:9205841).Curated1
Sequence conflicti764V → E in AAC50765 (PubMed:8812479).Curated1
Sequence conflicti775S → F in CAA04507 (Ref. 9) Curated1
Sequence conflicti790D → V in CAA04507 (Ref. 9) Curated1
Sequence conflicti921F → L in CAD97960 (PubMed:17974005).Curated1
Sequence conflicti954A → V in CAA04507 (Ref. 9) Curated1
Sequence conflicti994S → N in CAA04507 (Ref. 9) Curated1
Sequence conflicti1008A → T in CAD97960 (PubMed:17974005).Curated1
Sequence conflicti1021S → T in CAA04507 (Ref. 9) Curated1
Sequence conflicti1068P → T in AAC50765 (PubMed:8812479).Curated1
Sequence conflicti1093 – 1094HV → YA in CAA04507 (Ref. 9) Curated2
Sequence conflicti1134V → F in CAA04507 (Ref. 9) Curated1
Sequence conflicti1141 – 1143DSG → GPR in CAA04507 (Ref. 9) Curated3
Sequence conflicti1149D → G in CAA04507 (Ref. 9) Curated1
Sequence conflicti1256V → L in CAA04507 (Ref. 9) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_047550545P → A4 PublicationsCorresponds to variant dbSNP:rs6958498Ensembl.1
Natural variantiVAR_0355281093H → P in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0355291116G → V in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00783735 – 40Missing in isoform 4. 1 Publication6
Alternative sequenceiVSP_007838241 – 259Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_007839635 – 644Missing in isoform 4. 1 Publication10
Alternative sequenceiVSP_0078401051 – 1155Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST105
Alternative sequenceiVSP_0450401063 – 1155Missing in isoform 6. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_0078431225Y → YRSLE in isoform 5. Curated1
Alternative sequenceiVSP_0078411226 – 1236SDAEDHKPLKK → RLFSFVSSASF in isoform 2. CuratedAdd BLAST11
Alternative sequenceiVSP_0078421237 – 1304Missing in isoform 2. CuratedAdd BLAST68

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U55258 Genomic DNA Translation: AAC50765.1 Different initiation.
AF172277 Genomic DNA Translation: AAF22282.1
AF172277 Genomic DNA Translation: AAF22283.1
AB002341 mRNA Translation: BAA20801.2 Different initiation.
BX538010 mRNA Translation: CAD97960.1
AC005683 Genomic DNA No translation available.
AC007567 Genomic DNA No translation available.
CH236947 Genomic DNA Translation: EAL24386.1
CH471070 Genomic DNA Translation: EAW83429.1
BC115736 mRNA Translation: AAI15737.1
AJ001054 mRNA Translation: CAA04504.1
AJ001057 mRNA Translation: CAA04507.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47686.1 [Q92823-1]
CCDS55153.1 [Q92823-6]
CCDS5751.1 [Q92823-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001032209.1, NM_001037132.2 [Q92823-1]
NP_001180511.1, NM_001193582.1
NP_001180512.1, NM_001193583.1 [Q92823-6]
NP_001180513.1, NM_001193584.1 [Q92823-3]
NP_005001.3, NM_005010.4 [Q92823-4]
XP_005250430.1, XM_005250373.2 [Q92823-1]
XP_006716066.1, XM_006716003.1 [Q92823-5]
XP_016867746.1, XM_017012257.1 [Q92823-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000351718; ENSP00000325269; ENSG00000091129 [Q92823-4]
ENST00000379024; ENSP00000368310; ENSG00000091129 [Q92823-6]
ENST00000379028; ENSP00000368314; ENSG00000091129 [Q92823-1]
ENST00000425651; ENSP00000401244; ENSG00000091129 [Q92823-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4897

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4897

UCSC genome browser

More...
UCSCi
uc003vfc.4 human [Q92823-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U55258 Genomic DNA Translation: AAC50765.1 Different initiation.
AF172277 Genomic DNA Translation: AAF22282.1
AF172277 Genomic DNA Translation: AAF22283.1
AB002341 mRNA Translation: BAA20801.2 Different initiation.
BX538010 mRNA Translation: CAD97960.1
AC005683 Genomic DNA No translation available.
AC007567 Genomic DNA No translation available.
CH236947 Genomic DNA Translation: EAL24386.1
CH471070 Genomic DNA Translation: EAW83429.1
BC115736 mRNA Translation: AAI15737.1
AJ001054 mRNA Translation: CAA04504.1
AJ001057 mRNA Translation: CAA04507.1
CCDSiCCDS47686.1 [Q92823-1]
CCDS55153.1 [Q92823-6]
CCDS5751.1 [Q92823-4]
RefSeqiNP_001032209.1, NM_001037132.2 [Q92823-1]
NP_001180511.1, NM_001193582.1
NP_001180512.1, NM_001193583.1 [Q92823-6]
NP_001180513.1, NM_001193584.1 [Q92823-3]
NP_005001.3, NM_005010.4 [Q92823-4]
XP_005250430.1, XM_005250373.2 [Q92823-1]
XP_006716066.1, XM_006716003.1 [Q92823-5]
XP_016867746.1, XM_017012257.1 [Q92823-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UENNMR-A839-950[»]
1UEYNMR-A638-751[»]
SMRiQ92823
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110953, 9 interactors
IntActiQ92823, 6 interactors
MINTiQ92823
STRINGi9606.ENSP00000368314

PTM databases

GlyConnecti821
iPTMnetiQ92823
PhosphoSitePlusiQ92823
SwissPalmiQ92823
UniCarbKBiQ92823

Polymorphism and mutation databases

BioMutaiNRCAM
DMDMi215274127

Proteomic databases

MassIVEiQ92823
MaxQBiQ92823
PaxDbiQ92823
PeptideAtlasiQ92823
PRIDEiQ92823
ProteomicsDBi19619
75497 [Q92823-1]
75498 [Q92823-2]
75499 [Q92823-3]
75500 [Q92823-4]
75501 [Q92823-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351718; ENSP00000325269; ENSG00000091129 [Q92823-4]
ENST00000379024; ENSP00000368310; ENSG00000091129 [Q92823-6]
ENST00000379028; ENSP00000368314; ENSG00000091129 [Q92823-1]
ENST00000425651; ENSP00000401244; ENSG00000091129 [Q92823-1]
GeneIDi4897
KEGGihsa:4897
UCSCiuc003vfc.4 human [Q92823-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4897
DisGeNETi4897

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NRCAM
HGNCiHGNC:7994 NRCAM
HPAiHPA012606
MIMi601581 gene
neXtProtiNX_Q92823
OpenTargetsiENSG00000091129
PharmGKBiPA31773

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3513 Eukaryota
ENOG410XSVG LUCA
GeneTreeiENSGT00940000155419
HOGENOMiHOG000231380
InParanoidiQ92823
KOiK06756
OMAiYWIMAPQ
OrthoDBi434404at2759
PhylomeDBiQ92823
TreeFamiTF351098

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-447038 NrCAM interactions
R-HSA-447043 Neurofascin interactions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NRCAM human
EvolutionaryTraceiQ92823

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NRCAM

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4897

Pharos

More...
Pharosi
Q92823

Protein Ontology

More...
PROi
PR:Q92823

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000091129 Expressed in 186 organ(s), highest expression level in middle temporal gyrus
ExpressionAtlasiQ92823 baseline and differential
GenevisibleiQ92823 HS

Family and domain databases

CDDicd00063 FN3, 5 hits
Gene3Di2.60.40.10, 11 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR026966 Neurofascin/L1/NrCAM_C
PfamiView protein in Pfam
PF13882 Bravo_FIGEY, 1 hit
PF00041 fn3, 5 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 5 hits
SM00409 IG, 6 hits
SM00408 IGc2, 6 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 3 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 5 hits
PS50835 IG_LIKE, 6 hits
PS00290 IG_MHC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNRCAM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92823
Secondary accession number(s): A4D0S3
, E9PDA4, O15051, O15179, Q14BM2, Q9UHI3, Q9UHI4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: November 25, 2008
Last modified: September 18, 2019
This is version 184 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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