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  6. Down syndrome cell adhesion molecule-like protein 1

Tbio Down syndrome cell adhesion molecule-like protein 1

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).

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

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Property Summary

NCBI Gene PubMed Count 14
PubMed Score 15.59
PubTator Score 4.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 8.79966396052124E-35
posterior fossa group A ependymoma 1511 4.93370602476429E-14
ovarian cancer 8492 4.73231369571886E-12
atypical teratoid/rhabdoid tumor 1095 1.58336243159791E-8
group 3 medulloblastoma 2254 4.48357599012859E-6
pediatric high grade glioma 2712 0.00295752421655294
subependymal giant cell astrocytoma 2287 0.0207110326977474
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Cardiovascular system disease 194 0.0 2.0
Disease Target Count Z-score Confidence
Mite infestation 2 4.374 2.2

Expression

  Differential Expression (7)

Disease log2 FC p
posterior fossa group A ependymoma -1.800 0.000
atypical teratoid/rhabdoid tumor -1.700 0.000
pediatric high grade glioma -1.100 0.003
group 3 medulloblastoma 2.000 0.000
subependymal giant cell astrocytoma -1.738 0.021
lung carcinoma 1.600 0.000
ovarian cancer -1.700 0.000

Synonym

Accession Q8TD84 Q76MU9 Q8IZY3 Q8IZY4 Q8WXU7 Q9ULT7
Symbols DSCAM2

Gene

DSCAML1

PANTHER Protein Class (3)

PDB

1VA9  

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 GO Function (1)

 GO Component (6)

 GO Process (7)

 Compartment GO Term (15)

 MGI Term (3)

 GWAS Trait (2)

 HCA RNA Cell Line (25)

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Pathway (3)

 UniProt Keyword (18)

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Gene RIF (5)

PMID Text
24271036 DSCAML1 protein rs680730 SNP is associated with poor sperm morphology.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19945391 in all transgenic retinal cell types examined, both DSCAM and DSCAM-LIKE1 genes are functioning similarly in self-avoidance, whereas the stratification of neurites and synaptic specificity are intact in their absence.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

AA Sequence 

MWLVTFLLLLDSLHKARPEDVGTSLYFVNDSLQQVTFSSSVGVVVPCPAAGSPSAALRWYLATGDDIYDV      1 - 70
PHIRHVHANGTLQLYPFSPSAFNSFIHDNDYFCTAENAAGKIRSPNIRVKAVFREPYTVRVEDQRSMRGN     71 - 140
VAVFKCLIPSSVQEYVSVVSWEKDTVSIIPEHRFFITYHGGLYISDVQKEDALSTYRCITKHKYSGETRQ    141 - 210
SNGARLSVTDPAESIPTILDGFHSQEVWAGHTVELPCTASGYPIPAIRWLKDGRPLPADSRWTKRITGLT    211 - 280
ISDLRTEDSGTYICEVTNTFGSAEATGILMVIDPLHVTLTPKKLKTGIGSTVILSCALTGSPEFTIRWYR    281 - 350
NTELVLPDEAISIRGLSNETLLITSAQKSHSGAYQCFATRKAQTAQDFAIIALEDGTPRIVSSFSEKVVN    351 - 420
PGEQFSLMCAAKGAPPPTVTWALDDEPIVRDGSHRTNQYTMSDGTTISHMNVTGPQIRDGGVYRCTARNL    421 - 490
VGSAEYQARINVRGPPSIRAMRNITAVAGRDTLINCRVIGYPYYSIKWYKDALLLPDNHRQVVFENGTLK    491 - 560
LTDVQKGMDEGEYLCSVLIQPQLSISQSVHVAVKVPPLIQPFEFPPASIGQLLYIPCVVSSGDMPIRITW    561 - 630
RKDGQVIISGSGVTIESKEFMSSLQISSVSLKHNGNYTCIASNAAATVSRERQLIVRVPPRFVVQPNNQD    631 - 700
GIYGKAGVLNCSVDGYPPPKVMWKHAKGSGNPQQYHPVPLTGRIQILPNSSLLIRHVLEEDIGYYLCQAS    701 - 770
NGVGTDISKSMFLTVKIPAMITSHPNTTIAIKGHAKELNCTARGERPIIIRWEKGDTVIDPDRVMRYAIA    771 - 840
TKDNGDEVVSTLKLKPADRGDSVFFSCHAINSYGEDRGLIQLTVQEPPDPPELEIREVKARSMNLRWTQR    841 - 910
FDGNSIITGFDIEYKNKSDSWDFKQSTRNISPTINQANIVDLHPASVYSIRMYSFNKIGRSEPSKELTIS    911 - 980
TEEAAPDGPPMDVTLQPVTSQSIQVTWKAPKKELQNGVIRGYQIGYRENSPGSNGQYSIVEMKATGDSEV    981 - 1050
YTLDNLKKFAQYGVVVQAFNRAGTGPSSSEINATTLEDVPSQPPENVRALSITSDVAVISWSEPPRSTLN   1051 - 1120
GVLKGYRVIFWSLYVDGEWGEMQNITTTRERVELRGMEKFTNYSVQVLAYTQAGDGVRSSVLYIQTKEDV   1121 - 1190
PGPPAGIKAVPSSASSVVVSWLPPTKPNGVIRKYTIFCSSPGSGQPAPSEYETSPEQLFYRIAHLNRGQQ   1191 - 1260
YLLWVAAVTSAGRGNSSEKVTIEPAGKAPAKIISFGGTVTTPWMKDVRLPCNSVGDPAPAVKWTKDSEDS   1261 - 1330
AIPVSMDGHRLIHTNGTLLLRAVKAEDSGYYTCTATNTGGFDTIIVNLLVQVPPDQPRLTVSKTSASSIT   1331 - 1400
LTWIPGDNGGSSIRGFVLQYSVDNSEEWKDVFISSSERSFKLDSLKCGTWYKVKLAAKNSVGSGRISEII   1401 - 1470
EAKTHGREPSFSKDQHLFTHINSTHARLNLQGWNNGGCPITAIVLEYRPKGTWAWQGLRANSSGEVFLTE   1471 - 1540
LREATWYELRMRACNSAGCGNETAQFATLDYDGSTIPPIKSAQGEGDDVKKLFTIGCPVILATLGVALLF   1541 - 1610
IVRKKRKEKRLKRLRDAKSLAEMLISKNNRSFDTPVKGPPQGPRLHIDIPRVQLLIEDKEGIKQLGDDKA   1611 - 1680
TIPVTDAEFSQAVNPQSFCTGVSLHHPTLIQSTGPLIDMSDIRPGTNPVSRKNVKSAHSTRNRYSSQWTL   1681 - 1750
TKCQASTPARTLTSDWRTVGSQHGVTVTESDSYSASLSQDTDKGRNSMVSTESASSTYEELARAYEHAKL   1751 - 1820
EEQLQHAKFEITECFISDSSSDQMTTGTNENADSMTSMSTPSEPGICRFTASPPKPQDADRGKNVAVPIP   1821 - 1890
HRANKSDYCNLPLYAKSEAFFRKADGREPCPVVPPREASIRNLARTYHTQARHLTLDPASKSLGLPHPGA   1891 - 1960
PAAASTATLPQRTLAMPAPPAGTAPPAPGPTPAEPPTAPSAAPPAPSTEPPRAGGPHTKMGGSRDSLLEM   1961 - 2030
STSGVGRSQKQGAGAYSKSYTLV                                                  2031 - 2053
//

Text Mined References (16)

PMID Year Title
24271036 2014 Variants in DPF3 and DSCAML1 are associated with sperm morphology.
23599027 2013 Genome-wide association study of age at menarche in African-American women.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
21645617 2011 Human down syndrome cell adhesion molecules (DSCAMs) are functionally conserved with Drosophila Dscam[TM1] isoforms in controlling neurodevelopment.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19945391 2009 DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina.
19074352 2008 A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
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