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UniProtKB - Q8TD84 (DSCL1_HUMAN)

Protein

Down syndrome cell adhesion molecule-like protein 1

Gene

DSCAML1

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

Functioni

Cell adhesion molecule that plays a role in neuronal self-avoidance (PubMed:11453658). Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).By similarity1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-376172 DSCAM interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Down syndrome cell adhesion molecule-like protein 1
Alternative name(s):
Down syndrome cell adhesion molecule 2
Gene namesi
Name:DSCAML1
Synonyms:DSCAM2, KIAA11321 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000177103.13
HGNCiHGNC:14656 DSCAML1
MIMi611782 gene
neXtProtiNX_Q8TD84

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 1591ExtracellularSequence analysisAdd BLAST1573
Transmembranei1592 – 1612HelicalSequence analysisAdd BLAST21
Topological domaini1613 – 2053CytoplasmicSequence analysisAdd BLAST441

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi57453
OpenTargetsiENSG00000177103
PharmGKBiPA38384

Polymorphism and mutation databases

BioMutaiDSCAML1
DMDMi73620825

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001474819 – 2053Down syndrome cell adhesion molecule-like protein 1Add BLAST2035

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi47 ↔ 103PROSITE-ProRule annotation
Glycosylationi79N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 198PROSITE-ProRule annotation
Disulfide bondi247 ↔ 294PROSITE-ProRule annotation
Disulfide bondi336 ↔ 386PROSITE-ProRule annotation
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi429 ↔ 485PROSITE-ProRule annotation
Glycosylationi471N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi513N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi526 ↔ 575PROSITE-ProRule annotation
Glycosylationi556N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi617 ↔ 669PROSITE-ProRule annotation
Glycosylationi666N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi710N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi711 ↔ 767PROSITE-ProRule annotation
Glycosylationi749N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi796N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi809N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi810 ↔ 867PROSITE-ProRule annotation
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1082N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1144N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1162N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1275N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1311 ↔ 1363PROSITE-ProRule annotation
Glycosylationi1345N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1492N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1531N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1561N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8TD84
PeptideAtlasiQ8TD84
PRIDEiQ8TD84
ProteomicsDBi74248
74249 [Q8TD84-2]

PTM databases

iPTMnetiQ8TD84
PhosphoSitePlusiQ8TD84

Expressioni

Tissue specificityi

Detected in heart, liver, pancreas, skeletal muscle, kidney and in brain, in particular in the amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra, thalamus and subthalamus.2 Publications

Gene expression databases

BgeeiENSG00000177103 Expressed in 120 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_DSCAML1
ExpressionAtlasiQ8TD84 baseline and differential
GenevisibleiQ8TD84 HS

Organism-specific databases

HPAiHPA035230

Interactioni

Subunit structurei

Homodimer; mediates homophilic interactions to promote cell adhesion.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi121525, 3 interactors
IntActiQ8TD84, 3 interactors
STRINGi9606.ENSP00000315465

Structurei

Secondary structure

12053
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8TD84
SMRiQ8TD84
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TD84

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 119Ig-like C2-type 1Add BLAST101
Domaini115 – 217Ig-like C2-type 2Add BLAST103
Domaini226 – 306Ig-like C2-type 3Add BLAST81
Domaini314 – 402Ig-like C2-type 4Add BLAST89
Domaini408 – 501Ig-like C2-type 5Add BLAST94
Domaini506 – 586Ig-like C2-type 6Add BLAST81
Domaini596 – 685Ig-like C2-type 7Add BLAST90
Domaini690 – 784Ig-like C2-type 8Add BLAST95
Domaini788 – 885Ig-like C2-type 9Add BLAST98
Domaini887 – 984Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini989 – 1088Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST100
Domaini1093 – 1189Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST97
Domaini1193 – 1288Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST96
Domaini1278 – 1377Ig-like C2-type 10Add BLAST100
Domaini1383 – 1477Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST95
Domaini1478 – 1578Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST101

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1956 – 2016Pro-richAdd BLAST61

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQJM Eukaryota
ENOG410XQX7 LUCA
GeneTreeiENSGT00910000144009
HOGENOMiHOG000112277
HOVERGENiHBG051409
InParanoidiQ8TD84
KOiK06768
OrthoDBiEOG091G005W
PhylomeDBiQ8TD84
TreeFamiTF316846

Family and domain databases

CDDicd00063 FN3, 6 hits
Gene3Di2.60.40.10, 16 hits
InterProiView protein in InterPro
IPR033029 DSCAML1
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set
PANTHERiPTHR44107:SF3 PTHR44107:SF3, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 5 hits
PF07679 I-set, 4 hits
SMARTiView protein in SMART
SM00060 FN3, 6 hits
SM00409 IG, 10 hits
SM00408 IGc2, 9 hits
SM00406 IGv, 2 hits
SUPFAMiSSF48726 SSF48726, 10 hits
SSF49265 SSF49265, 3 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 6 hits
PS50835 IG_LIKE, 9 hits

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: Q8TD84-1) [UniParc]FASTAAdd to basket
Also known as: 1a

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
MWLVTFLLLL DSLHKARPED VGTSLYFVND SLQQVTFSSS VGVVVPCPAA 
        60         70         80         90        100
GSPSAALRWY LATGDDIYDV PHIRHVHANG TLQLYPFSPS AFNSFIHDND 
       110        120        130        140        150
YFCTAENAAG KIRSPNIRVK AVFREPYTVR VEDQRSMRGN VAVFKCLIPS 
       160        170        180        190        200
SVQEYVSVVS WEKDTVSIIP EHRFFITYHG GLYISDVQKE DALSTYRCIT 
       210        220        230        240        250
KHKYSGETRQ SNGARLSVTD PAESIPTILD GFHSQEVWAG HTVELPCTAS 
       260        270        280        290        300
GYPIPAIRWL KDGRPLPADS RWTKRITGLT ISDLRTEDSG TYICEVTNTF 
       310        320        330        340        350
GSAEATGILM VIDPLHVTLT PKKLKTGIGS TVILSCALTG SPEFTIRWYR 
       360        370        380        390        400
NTELVLPDEA ISIRGLSNET LLITSAQKSH SGAYQCFATR KAQTAQDFAI 
       410        420        430        440        450
IALEDGTPRI VSSFSEKVVN PGEQFSLMCA AKGAPPPTVT WALDDEPIVR 
       460        470        480        490        500
DGSHRTNQYT MSDGTTISHM NVTGPQIRDG GVYRCTARNL VGSAEYQARI 
       510        520        530        540        550
NVRGPPSIRA MRNITAVAGR DTLINCRVIG YPYYSIKWYK DALLLPDNHR 
       560        570        580        590        600
QVVFENGTLK LTDVQKGMDE GEYLCSVLIQ PQLSISQSVH VAVKVPPLIQ 
       610        620        630        640        650
PFEFPPASIG QLLYIPCVVS SGDMPIRITW RKDGQVIISG SGVTIESKEF 
       660        670        680        690        700
MSSLQISSVS LKHNGNYTCI ASNAAATVSR ERQLIVRVPP RFVVQPNNQD 
       710        720        730        740        750
GIYGKAGVLN CSVDGYPPPK VMWKHAKGSG NPQQYHPVPL TGRIQILPNS 
       760        770        780        790        800
SLLIRHVLEE DIGYYLCQAS NGVGTDISKS MFLTVKIPAM ITSHPNTTIA 
       810        820        830        840        850
IKGHAKELNC TARGERPIII RWEKGDTVID PDRVMRYAIA TKDNGDEVVS 
       860        870        880        890        900
TLKLKPADRG DSVFFSCHAI NSYGEDRGLI QLTVQEPPDP PELEIREVKA 
       910        920        930        940        950
RSMNLRWTQR FDGNSIITGF DIEYKNKSDS WDFKQSTRNI SPTINQANIV 
       960        970        980        990       1000
DLHPASVYSI RMYSFNKIGR SEPSKELTIS TEEAAPDGPP MDVTLQPVTS 
      1010       1020       1030       1040       1050
QSIQVTWKAP KKELQNGVIR GYQIGYRENS PGSNGQYSIV EMKATGDSEV 
      1060       1070       1080       1090       1100
YTLDNLKKFA QYGVVVQAFN RAGTGPSSSE INATTLEDVP SQPPENVRAL 
      1110       1120       1130       1140       1150
SITSDVAVIS WSEPPRSTLN GVLKGYRVIF WSLYVDGEWG EMQNITTTRE 
      1160       1170       1180       1190       1200
RVELRGMEKF TNYSVQVLAY TQAGDGVRSS VLYIQTKEDV PGPPAGIKAV 
      1210       1220       1230       1240       1250
PSSASSVVVS WLPPTKPNGV IRKYTIFCSS PGSGQPAPSE YETSPEQLFY 
      1260       1270       1280       1290       1300
RIAHLNRGQQ YLLWVAAVTS AGRGNSSEKV TIEPAGKAPA KIISFGGTVT 
      1310       1320       1330       1340       1350
TPWMKDVRLP CNSVGDPAPA VKWTKDSEDS AIPVSMDGHR LIHTNGTLLL 
      1360       1370       1380       1390       1400
RAVKAEDSGY YTCTATNTGG FDTIIVNLLV QVPPDQPRLT VSKTSASSIT 
      1410       1420       1430       1440       1450
LTWIPGDNGG SSIRGFVLQY SVDNSEEWKD VFISSSERSF KLDSLKCGTW 
      1460       1470       1480       1490       1500
YKVKLAAKNS VGSGRISEII EAKTHGREPS FSKDQHLFTH INSTHARLNL 
      1510       1520       1530       1540       1550
QGWNNGGCPI TAIVLEYRPK GTWAWQGLRA NSSGEVFLTE LREATWYELR 
      1560       1570       1580       1590       1600
MRACNSAGCG NETAQFATLD YDGSTIPPIK SAQGEGDDVK KLFTIGCPVI 
      1610       1620       1630       1640       1650
LATLGVALLF IVRKKRKEKR LKRLRDAKSL AEMLISKNNR SFDTPVKGPP 
      1660       1670       1680       1690       1700
QGPRLHIDIP RVQLLIEDKE GIKQLGDDKA TIPVTDAEFS QAVNPQSFCT 
      1710       1720       1730       1740       1750
GVSLHHPTLI QSTGPLIDMS DIRPGTNPVS RKNVKSAHST RNRYSSQWTL 
      1760       1770       1780       1790       1800
TKCQASTPAR TLTSDWRTVG SQHGVTVTES DSYSASLSQD TDKGRNSMVS 
      1810       1820       1830       1840       1850
TESASSTYEE LARAYEHAKL EEQLQHAKFE ITECFISDSS SDQMTTGTNE 
      1860       1870       1880       1890       1900
NADSMTSMST PSEPGICRFT ASPPKPQDAD RGKNVAVPIP HRANKSDYCN 
      1910       1920       1930       1940       1950
LPLYAKSEAF FRKADGREPC PVVPPREASI RNLARTYHTQ ARHLTLDPAS 
      1960       1970       1980       1990       2000
KSLGLPHPGA PAAASTATLP QRTLAMPAPP AGTAPPAPGP TPAEPPTAPS 
      2010       2020       2030       2040       2050
AAPPAPSTEP PRAGGPHTKM GGSRDSLLEM STSGVGRSQK QGAGAYSKSY 

TLV
Length:2,053
Mass (Da):224,463
Last modified:August 16, 2005 - v2
Checksum:i9CC9644214FF19C4
GO
Isoform 2 (identifier: Q8TD84-2) [UniParc]FASTAAdd to basket
Also known as: 1b

The sequence of this isoform differs from the canonical sequence as follows:
     35-244: Missing.

Show »
Length:1,843
Mass (Da):201,110
Checksum:i45A615F6062CC1F5
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PP71E9PP71_HUMAN
Down syndrome cell adhesion molecul...
DSCAML1
66Annotation score:

Sequence cautioni

The sequence AAM09558 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAN32614 differs from that shown. Aberrant splice donor site.Curated
The sequence BAA86446 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4V → L in AAN32613 (Ref. 3) Curated1
Sequence conflicti4V → L in AAN32614 (Ref. 3) Curated1
Sequence conflicti150 – 152SSV → FLG in AAN32613 (Ref. 3) Curated3
Sequence conflicti172H → N in AAL57166 (PubMed:11453658).Curated1
Sequence conflicti172H → N in BAA86446 (PubMed:10574461).Curated1
Sequence conflicti250S → P in AAN32614 (Ref. 3) Curated1
Sequence conflicti469H → Y in AAN32613 (Ref. 3) Curated1
Sequence conflicti667Y → D in AAN32613 (Ref. 3) Curated1
Sequence conflicti667Y → D in AAN32614 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035512659V → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0355131702V → I in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01497835 – 244Missing in isoform 2. 1 PublicationAdd BLAST210

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF334384 mRNA Translation: AAL57166.1
AF491813 mRNA Translation: AAM09558.1 Different initiation.
AF304304 mRNA Translation: AAN32613.1
AF304305 mRNA Translation: AAN32614.1 Sequence problems.
AB032958 mRNA Translation: BAA86446.2 Different initiation.
AP000711 Genomic DNA No translation available.
AP000757 Genomic DNA No translation available.
AP001554 Genomic DNA No translation available.
AP002342 Genomic DNA No translation available.
KF511128 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67322.1
RefSeqiNP_065744.2, NM_020693.3
UniGeneiHs.659513

Genome annotation databases

EnsembliENST00000321322; ENSP00000315465; ENSG00000177103
GeneIDi57453
KEGGihsa:57453
UCSCiuc001prh.1 human [Q8TD84-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDSCL1_HUMAN
AccessioniPrimary (citable) accession number: Q8TD84
Secondary accession number(s): G3V1B5
, Q76MU9, Q8IZY3, Q8IZY4, Q8WXU7, Q9ULT7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: September 12, 2018
This is version 146 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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