Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O00533 (CHL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neural cell adhesion molecule L1-like protein
Alternative name(s):
Close homolog of L1
Gene names
Name:CHL1
Synonyms:CALL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1208 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Note: Soluble forms produced by cleavage/shedding also exist By similarity.

Processed neural cell adhesion molecule L1-like protein: Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

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

Domain

The FIG[AQ]Y motif seems to be an ankyrin recruitment region.

The DGEA motif seems to be a recognition site for integrin.

Post-translational modification

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.

O-glycosylated By similarity.

Sequence similarities

Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.

Contains 4 fibronectin type-III domains.

Contains 6 Ig-like C2-type (immunoglobulin-like) domains.

Sequence caution

The sequence BAD92566.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processCell adhesion
Differentiation
Neurogenesis
   Cellular componentCell membrane
Extracellular matrix
Membrane
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult locomotory behavior

Inferred from electronic annotation. Source: Ensembl

axon guidance

Traceable author statement. Source: Reactome

axon regeneration

Inferred from electronic annotation. Source: Ensembl

cell adhesion

Traceable author statement Ref.1. Source: ProtInc

cognition

Inferred from electronic annotation. Source: Ensembl

exploration behavior

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentapical part of cell

Inferred from electronic annotation. Source: Ensembl

dendrite

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00533-1)

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.
Isoform 2 (identifier: O00533-2)

The sequence of this isoform differs from the canonical sequence as follows:
     227-227: S → LKHANDSSSSTEIGSKA
Note: Glycosylated on Asn-231.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 12081184Neural cell adhesion molecule L1-like protein
PRO_0000247896
Chain25 – ?Processed neural cell adhesion molecule L1-like protein PotentialPRO_0000314777

Regions

Topological domain25 – 10821058Extracellular Potential
Transmembrane1083 – 110321Helical; Potential
Topological domain1104 – 1208105Cytoplasmic Potential
Domain35 – 12490Ig-like C2-type 1
Domain128 – 22396Ig-like C2-type 2
Domain235 – 32894Ig-like C2-type 3
Domain331 – 41787Ig-like C2-type 4
Domain423 – 51088Ig-like C2-type 5
Domain515 – 60793Ig-like C2-type 6
Domain614 – 70996Fibronectin type-III 1
Domain714 – 80794Fibronectin type-III 2
Domain809 – 914106Fibronectin type-III 3
Domain918 – 101598Fibronectin type-III 4
Motif555 – 5584DGEA
Motif1181 – 11855FIG[AQ]Y

Sites

Site753 – 7542Cleavage; by ADAM8 By similarity
Site1039 – 10402Cleavage; by ADAM8 By similarity

Amino acid modifications

Glycosylation2991N-linked (GlcNAc...) Potential
Glycosylation4761N-linked (GlcNAc...) Ref.5
Glycosylation4821N-linked (GlcNAc...) Ref.5
Glycosylation5621N-linked (GlcNAc...) Ref.5
Glycosylation5801N-linked (GlcNAc...) Potential
Glycosylation7671N-linked (GlcNAc...) Ref.5
Glycosylation8221N-linked (GlcNAc...) Ref.5
Glycosylation9451N-linked (GlcNAc...) Potential
Glycosylation10261N-linked (GlcNAc...) Ref.5
Disulfide bond57 ↔ 109 By similarity
Disulfide bond153 ↔ 204 By similarity
Disulfide bond262 ↔ 310 By similarity
Disulfide bond352 ↔ 401 By similarity
Disulfide bond445 ↔ 494 By similarity
Disulfide bond536 ↔ 591 By similarity

Natural variations

Alternative sequence2271S → LKHANDSSSSTEIGSKA in isoform 2.
VSP_020082
Natural variant171L → F.
Corresponds to variant rs2272522 [ dbSNP | Ensembl ].
VAR_027167
Natural variant2871T → A. Ref.1 Ref.2 Ref.4
Corresponds to variant rs13060847 [ dbSNP | Ensembl ].
VAR_027168
Natural variant4111L → I in a colorectal cancer sample; somatic mutation. Ref.6
VAR_035505
Natural variant10341I → V. Ref.1 Ref.2 Ref.4
Corresponds to variant rs6442827 [ dbSNP | Ensembl ].
VAR_027169

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 4.
Checksum: F706F87B60A1685D

FASTA1,208135,071
        10         20         30         40         50         60 
MEPLLLGRGL IVYLMFLLLK FSKAIEIPSS VQQVPTIIKQ SKVQVAFPFD EYFQIECEAK 

        70         80         90        100        110        120 
GNPEPTFSWT KDGNPFYFTD HRIIPSNNSG TFRIPNEGHI SHFQGKYRCF ASNKLGIAMS 

       130        140        150        160        170        180 
EEIEFIVPSV PKFPKEKIDP LEVEEGDPIV LPCNPPKGLP PLHIYWMNIE LEHIEQDERV 

       190        200        210        220        230        240 
YMSQKGDLYF ANVEEKDSRN DYCCFAAFPR LRTIVQKMPM KLTVNSSNSI KQRKPKLLLP 

       250        260        270        280        290        300 
PTESGSESSI TILKGEILLL ECFAEGLPTP QVDWNKIGGD LPKGRETKEN YGKTLKIENV 

       310        320        330        340        350        360 
SYQDKGNYRC TASNFLGTAT HDFHVIVEEP PRWTKKPQSA VYSTGSNGIL LCEAEGEPQP 

       370        380        390        400        410        420 
TIKWRVNGSP VDNHPFAGDV VFPREISFTN LQPNHTAVYQ CEASNVHGTI LANANIDVVD 

       430        440        450        460        470        480 
VRPLIQTKDG ENYATVVGYS AFLHCEFFAS PEAVVSWQKV EEVKPLEGRR YHIYENGTLQ 

       490        500        510        520        530        540 
INRTTEEDAG SYSCWVENAI GKTAVTANLD IRNATKLRVS PKNPRIPKLH MLELHCESKC 

       550        560        570        580        590        600 
DSHLKHSLKL SWSKDGEAFE INGTEDGRII IDGANLTISN VTLEDQGIYC CSAHTALDSA 

       610        620        630        640        650        660 
ADITQVTVLD VPDPPENLHL SERQNRSVRL TWEAGADHNS NISEYIVEFE GNKEEPGRWE 

       670        680        690        700        710        720 
ELTRVQGKKT TVILPLAPFV RYQFRVIAVN EVGRSQPSQP SDHHETPPAA PDRNPQNIRV 

       730        740        750        760        770        780 
QASQPKEMII KWEPLKSMEQ NGPGLEYRVT WKPQGAPVEW EEETVTNHTL RVMTPAVYAP 

       790        800        810        820        830        840 
YDVKVQAINQ LGSGPDPQSV TLYSGEDYPD TAPVIHGVDV INSTLVKVTW STVPKDRVHG 

       850        860        870        880        890        900 
RLKGYQINWW KTKSLLDGRT HPKEVNILRF SGQRNSGMVP SLDAFSEFHL TVLAYNSKGA 

       910        920        930        940        950        960 
GPESEPYIFQ TPEGVPEQPT FLKVIKVDKD TATLSWGLPK KLNGNLTGYL LQYQIINDTY 

       970        980        990       1000       1010       1020 
EIGELNDINI TTPSKPSWHL SNLNATTKYK FYLRACTSQG CGKPITEESS TLGEGSKGIG 

      1030       1040       1050       1060       1070       1080 
KISGVNLTQK THPIEVFEPG AEHIVRLMTK NWGDNDSIFQ DVIETRGREY AGLYDDISTQ 

      1090       1100       1110       1120       1130       1140 
GWFIGLMCAI ALLTLLLLTV CFVKRNRGGK YSVKEKEDLH PDPEIQSVKD ETFGEYSDSD 

      1150       1160       1170       1180       1190       1200 
EKPLKGSLRS LNRDMQPTES ADSLVEYGEG DHGLFSEDGS FIGAYAGSKE KGSVESNGSS 


TATFPLRA 

« Hide

Isoform 2 [UniParc].

Checksum: 979C6315B6D99AC2
Show »

FASTA1,224136,698

References

« Hide 'large scale' references
[1]"In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules."
Wei M.-H., Karavanova I., Ivanov S.V., Popescu N.C., Keck C.L., Pack S., Eisen J.A., Lerman M.I.
Hum. Genet. 103:355-364(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANTS ALA-287 AND VAL-1034.
[2]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-287 AND VAL-1034.
Tissue: Brain.
[3]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-287 AND VAL-1034.
Tissue: Brain.
[5]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-476; ASN-482; ASN-562; ASN-767; ASN-822 AND ASN-1026.
Tissue: Plasma.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-411.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001240316.1. NM_001253387.1.
NP_006605.2. NM_006614.3.
UniGeneHs.148909.
Hs.731409.

3D structure databases

ProteinModelPortalO00533.
SMRO00533. Positions 31-1002.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActO00533. 2 interactions.
STRING9606.ENSP00000256509.

PTM databases

PhosphoSiteO00533.

Proteomic databases

PaxDbO00533.
PRIDEO00533.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256509; ENSP00000256509; ENSG00000134121. [O00533-2]
ENST00000397491; ENSP00000380628; ENSG00000134121. [O00533-1]
GeneID10752.
KEGGhsa:10752.
UCSCuc003bot.3. human. [O00533-2]
uc003bou.3. human. [O00533-1]

Organism-specific databases

CTD10752.
GeneCardsGC03P000213.
H-InvDBHIX0030810.
HGNCHGNC:1939. CHL1.
HPACAB026120.
HPA003345.
MIM607416. gene.
neXtProtNX_O00533.
Orphanet1620. Distal monosomy 3p.
PharmGKBPA26470.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG256023.
HOGENOMHOG000231380.
HOVERGENHBG000144.
KOK06758.
OMAYVRYQFR.
OrthoDBEOG7R56RM.
PhylomeDBO00533.
TreeFamTF351098.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressO00533.
BgeeO00533.
CleanExHS_CHL1.
GenevestigatorO00533.

Family and domain databases

Gene3D2.60.40.10. 10 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR026966. Neurofascin/L1/NrCAM_C.
[Graphical view]
PfamPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 4 hits.
[Graphical view]
SMARTSM00060. FN3. 4 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 3 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCHL1. human.
GeneWikiCHL1.
GenomeRNAi10752.
NextBio40833.
PROO00533.
SOURCESearch...

Entry information

Entry nameCHL1_HUMAN
AccessionPrimary (citable) accession number: O00533
Secondary accession number(s): B7ZL03, Q2M3G2, Q59FY0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 113 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM