Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Neural cell adhesion molecule L1-like protein

Gene

CHL1

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

Functioni

Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).By similarity

GO - Biological processi

  • adult locomotory behavior Source: Ensembl
  • axon guidance Source: Ensembl
  • axon regeneration Source: Ensembl
  • cell adhesion Source: ProtInc
  • cognition Source: Ensembl
  • exploration behavior Source: Ensembl
  • negative regulation of neuron apoptotic process Source: Ensembl
  • neuron migration Source: Ensembl
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion, Differentiation, Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134121-MONOMER.
ReactomeiR-HSA-447041. CHL1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Neural cell adhesion molecule L1-like protein
Alternative name(s):
Close homolog of L1
Cleaved into the following chain:
Gene namesi
Name:CHL1
Synonyms:CALL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1939. CHL1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 1082ExtracellularSequence analysisAdd BLAST1058
Transmembranei1083 – 1103HelicalSequence analysisAdd BLAST21
Topological domaini1104 – 1208CytoplasmicSequence analysisAdd BLAST105

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • dendrite Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi10752.
MalaCardsiCHL1.
OpenTargetsiENSG00000134121.
Orphaneti1620. Distal monosomy 3p.
PharmGKBiPA26470.

Polymorphism and mutation databases

BioMutaiCHL1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000024789625 – 1208Neural cell adhesion molecule L1-like proteinAdd BLAST1184
ChainiPRO_000031477725 – ?Processed neural cell adhesion molecule L1-like proteinSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi57 ↔ 109PROSITE-ProRule annotation
Disulfide bondi153 ↔ 204PROSITE-ProRule annotation
Disulfide bondi262 ↔ 310PROSITE-ProRule annotation
Glycosylationi299N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi352 ↔ 401PROSITE-ProRule annotation
Disulfide bondi445 ↔ 494PROSITE-ProRule annotation
Glycosylationi476N-linked (GlcNAc...)1 Publication1
Glycosylationi482N-linked (GlcNAc...)1 Publication1
Disulfide bondi536 ↔ 591PROSITE-ProRule annotation
Glycosylationi562N-linked (GlcNAc...)1 Publication1
Glycosylationi580N-linked (GlcNAc...)Sequence analysis1
Glycosylationi767N-linked (GlcNAc...)1 Publication1
Glycosylationi822N-linked (GlcNAc...)1 Publication1
Glycosylationi945N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1026N-linked (GlcNAc...)1 Publication1
Modified residuei1147PhosphoserineBy similarity1
Modified residuei1160PhosphoserineBy similarity1
Modified residuei1180PhosphoserineBy similarity1

Post-translational modificationi

Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors.
N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity).By similarity
O-glycosylated.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei753 – 754Cleavage; by ADAM8By similarity2
Sitei1039 – 1040Cleavage; by ADAM8By similarity2

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO00533.
PaxDbiO00533.
PeptideAtlasiO00533.
PRIDEiO00533.

PTM databases

iPTMnetiO00533.
PhosphoSitePlusiO00533.
SwissPalmiO00533.

Expressioni

Tissue specificityi

Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues.1 Publication

Gene expression databases

BgeeiENSG00000134121.
CleanExiHS_CHL1.
ExpressionAtlasiO00533. baseline and differential.
GenevisibleiO00533. HS.

Organism-specific databases

HPAiCAB026120.
HPA003345.

Interactioni

Subunit structurei

May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as with ANK3 (By similarity).By similarity

Protein-protein interaction databases

BioGridi115975. 4 interactors.
IntActiO00533. 2 interactors.
STRINGi9606.ENSP00000256509.

Structurei

3D structure databases

ProteinModelPortaliO00533.
SMRiO00533.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 124Ig-like C2-type 1Add BLAST90
Domaini128 – 223Ig-like C2-type 2Add BLAST96
Domaini235 – 328Ig-like C2-type 3Add BLAST94
Domaini331 – 417Ig-like C2-type 4Add BLAST87
Domaini423 – 510Ig-like C2-type 5Add BLAST88
Domaini515 – 607Ig-like C2-type 6Add BLAST93
Domaini614 – 709Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST96
Domaini714 – 807Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST94
Domaini809 – 914Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST106
Domaini918 – 1015Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST98

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi555 – 558DGEA4
Motifi1181 – 1185FIG[AQ]Y5

Domaini

The FIG[AQ]Y motif seems to be an ankyrin recruitment region.
The DGEA motif seems to be a recognition site for integrin.

Sequence similaritiesi

Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000231380.
HOVERGENiHBG000144.
InParanoidiO00533.
KOiK06758.
OMAiYVRYQFR.
OrthoDBiEOG091G00LY.
PhylomeDBiO00533.
TreeFamiTF351098.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 10 hits.
InterProiIPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013151. Immunoglobulin.
IPR026966. Neurofascin/L1/NrCAM_C.
[Graphical view]
PfamiPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 1 hit.
PF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00533-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MEPLLLGRGL IVYLMFLLLK FSKAIEIPSS VQQVPTIIKQ SKVQVAFPFD
60 70 80 90 100
EYFQIECEAK GNPEPTFSWT KDGNPFYFTD HRIIPSNNSG TFRIPNEGHI
110 120 130 140 150
SHFQGKYRCF ASNKLGIAMS EEIEFIVPSV PKFPKEKIDP LEVEEGDPIV
160 170 180 190 200
LPCNPPKGLP PLHIYWMNIE LEHIEQDERV YMSQKGDLYF ANVEEKDSRN
210 220 230 240 250
DYCCFAAFPR LRTIVQKMPM KLTVNSSNSI KQRKPKLLLP PTESGSESSI
260 270 280 290 300
TILKGEILLL ECFAEGLPTP QVDWNKIGGD LPKGRETKEN YGKTLKIENV
310 320 330 340 350
SYQDKGNYRC TASNFLGTAT HDFHVIVEEP PRWTKKPQSA VYSTGSNGIL
360 370 380 390 400
LCEAEGEPQP TIKWRVNGSP VDNHPFAGDV VFPREISFTN LQPNHTAVYQ
410 420 430 440 450
CEASNVHGTI LANANIDVVD VRPLIQTKDG ENYATVVGYS AFLHCEFFAS
460 470 480 490 500
PEAVVSWQKV EEVKPLEGRR YHIYENGTLQ INRTTEEDAG SYSCWVENAI
510 520 530 540 550
GKTAVTANLD IRNATKLRVS PKNPRIPKLH MLELHCESKC DSHLKHSLKL
560 570 580 590 600
SWSKDGEAFE INGTEDGRII IDGANLTISN VTLEDQGIYC CSAHTALDSA
610 620 630 640 650
ADITQVTVLD VPDPPENLHL SERQNRSVRL TWEAGADHNS NISEYIVEFE
660 670 680 690 700
GNKEEPGRWE ELTRVQGKKT TVILPLAPFV RYQFRVIAVN EVGRSQPSQP
710 720 730 740 750
SDHHETPPAA PDRNPQNIRV QASQPKEMII KWEPLKSMEQ NGPGLEYRVT
760 770 780 790 800
WKPQGAPVEW EEETVTNHTL RVMTPAVYAP YDVKVQAINQ LGSGPDPQSV
810 820 830 840 850
TLYSGEDYPD TAPVIHGVDV INSTLVKVTW STVPKDRVHG RLKGYQINWW
860 870 880 890 900
KTKSLLDGRT HPKEVNILRF SGQRNSGMVP SLDAFSEFHL TVLAYNSKGA
910 920 930 940 950
GPESEPYIFQ TPEGVPEQPT FLKVIKVDKD TATLSWGLPK KLNGNLTGYL
960 970 980 990 1000
LQYQIINDTY EIGELNDINI TTPSKPSWHL SNLNATTKYK FYLRACTSQG
1010 1020 1030 1040 1050
CGKPITEESS TLGEGSKGIG KISGVNLTQK THPIEVFEPG AEHIVRLMTK
1060 1070 1080 1090 1100
NWGDNDSIFQ DVIETRGREY AGLYDDISTQ GWFIGLMCAI ALLTLLLLTV
1110 1120 1130 1140 1150
CFVKRNRGGK YSVKEKEDLH PDPEIQSVKD ETFGEYSDSD EKPLKGSLRS
1160 1170 1180 1190 1200
LNRDMQPTES ADSLVEYGEG DHGLFSEDGS FIGAYAGSKE KGSVESNGSS

TATFPLRA
Length:1,208
Mass (Da):135,071
Last modified:January 11, 2011 - v4
Checksum:iF706F87B60A1685D
GO
Isoform 2 (identifier: O00533-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-227: S → LKHANDSSSSTEIGSKA

Note: Glycosylated on Asn-231.
Show »
Length:1,224
Mass (Da):136,698
Checksum:i979C6315B6D99AC2
GO

Sequence cautioni

The sequence BAD92566 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02716717L → F.Corresponds to variant rs2272522dbSNPEnsembl.1
Natural variantiVAR_027168287T → A.3 PublicationsCorresponds to variant rs13060847dbSNPEnsembl.1
Natural variantiVAR_035505411L → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0271691034I → V.3 PublicationsCorresponds to variant rs6442827dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020082227S → LKHANDSSSSTEIGSKA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002246 mRNA. Translation: AAB60937.1.
AB209329 mRNA. Translation: BAD92566.1. Different initiation.
AC011609 Genomic DNA. No translation available.
AC026187 Genomic DNA. No translation available.
BC104918 mRNA. Translation: AAI04919.1.
BC143496 mRNA. Translation: AAI43497.1.
CCDSiCCDS2556.1. [O00533-2]
CCDS58812.1. [O00533-1]
RefSeqiNP_001240316.1. NM_001253387.1. [O00533-1]
NP_006605.2. NM_006614.3. [O00533-2]
XP_006713001.1. XM_006712938.1. [O00533-2]
XP_006713002.1. XM_006712939.3. [O00533-2]
XP_006713003.1. XM_006712940.3. [O00533-2]
XP_011531594.1. XM_011533292.1. [O00533-2]
XP_011531596.1. XM_011533294.1. [O00533-1]
XP_011531597.1. XM_011533295.1. [O00533-1]
XP_016861055.1. XM_017005566.1. [O00533-2]
XP_016861056.1. XM_017005567.1. [O00533-2]
XP_016861057.1. XM_017005568.1. [O00533-2]
XP_016861058.1. XM_017005569.1. [O00533-1]
XP_016861059.1. XM_017005570.1. [O00533-1]
XP_016861060.1. XM_017005571.1. [O00533-1]
UniGeneiHs.148909.
Hs.731409.

Genome annotation databases

EnsembliENST00000256509; ENSP00000256509; ENSG00000134121. [O00533-2]
ENST00000397491; ENSP00000380628; ENSG00000134121. [O00533-1]
GeneIDi10752.
KEGGihsa:10752.
UCSCiuc003bot.4. human. [O00533-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002246 mRNA. Translation: AAB60937.1.
AB209329 mRNA. Translation: BAD92566.1. Different initiation.
AC011609 Genomic DNA. No translation available.
AC026187 Genomic DNA. No translation available.
BC104918 mRNA. Translation: AAI04919.1.
BC143496 mRNA. Translation: AAI43497.1.
CCDSiCCDS2556.1. [O00533-2]
CCDS58812.1. [O00533-1]
RefSeqiNP_001240316.1. NM_001253387.1. [O00533-1]
NP_006605.2. NM_006614.3. [O00533-2]
XP_006713001.1. XM_006712938.1. [O00533-2]
XP_006713002.1. XM_006712939.3. [O00533-2]
XP_006713003.1. XM_006712940.3. [O00533-2]
XP_011531594.1. XM_011533292.1. [O00533-2]
XP_011531596.1. XM_011533294.1. [O00533-1]
XP_011531597.1. XM_011533295.1. [O00533-1]
XP_016861055.1. XM_017005566.1. [O00533-2]
XP_016861056.1. XM_017005567.1. [O00533-2]
XP_016861057.1. XM_017005568.1. [O00533-2]
XP_016861058.1. XM_017005569.1. [O00533-1]
XP_016861059.1. XM_017005570.1. [O00533-1]
XP_016861060.1. XM_017005571.1. [O00533-1]
UniGeneiHs.148909.
Hs.731409.

3D structure databases

ProteinModelPortaliO00533.
SMRiO00533.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115975. 4 interactors.
IntActiO00533. 2 interactors.
STRINGi9606.ENSP00000256509.

PTM databases

iPTMnetiO00533.
PhosphoSitePlusiO00533.
SwissPalmiO00533.

Polymorphism and mutation databases

BioMutaiCHL1.

Proteomic databases

MaxQBiO00533.
PaxDbiO00533.
PeptideAtlasiO00533.
PRIDEiO00533.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256509; ENSP00000256509; ENSG00000134121. [O00533-2]
ENST00000397491; ENSP00000380628; ENSG00000134121. [O00533-1]
GeneIDi10752.
KEGGihsa:10752.
UCSCiuc003bot.4. human. [O00533-1]

Organism-specific databases

CTDi10752.
DisGeNETi10752.
GeneCardsiCHL1.
H-InvDBHIX0030810.
HGNCiHGNC:1939. CHL1.
HPAiCAB026120.
HPA003345.
MalaCardsiCHL1.
MIMi607416. gene.
neXtProtiNX_O00533.
OpenTargetsiENSG00000134121.
Orphaneti1620. Distal monosomy 3p.
PharmGKBiPA26470.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000231380.
HOVERGENiHBG000144.
InParanoidiO00533.
KOiK06758.
OMAiYVRYQFR.
OrthoDBiEOG091G00LY.
PhylomeDBiO00533.
TreeFamiTF351098.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134121-MONOMER.
ReactomeiR-HSA-447041. CHL1 interactions.

Miscellaneous databases

ChiTaRSiCHL1. human.
GeneWikiiCHL1.
GenomeRNAii10752.
PROiO00533.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134121.
CleanExiHS_CHL1.
ExpressionAtlasiO00533. baseline and differential.
GenevisibleiO00533. HS.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 10 hits.
InterProiIPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013151. Immunoglobulin.
IPR026966. Neurofascin/L1/NrCAM_C.
[Graphical view]
PfamiPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 1 hit.
PF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNCHL1_HUMAN
AccessioniPrimary (citable) accession number: O00533
Secondary accession number(s): B7ZL03, Q2M3G2, Q59FY0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 139 of the entry and version 4 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 3
    Human chromosome 3: 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.