• Gene id: 57453

Gene Summary

• Gene Symbol: DSCAML1   Gene   UCSC   Ensembl
• Aliases: DSCAM2
• Gene name: DS cell adhesion molecule like 1
• Alternate names: Down syndrome cell adhesion molecule-like protein 1, DSCAM-like 1, Downs syndrome cell adhesion molecule like 1, down syndrome cell adhesion molecule 2,
• Gene location: 11q23.3 (117797260: 117427771)     Exons: 37     NC_000011.10
• Gene summary(Entrez): 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 proc
• OMIM: 611782

SNPs

rs680730

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.117604518C>T
NC_000011.9   g.117475233C>T
NG_051656.1   g.197744G>A|SEQ=[C/T]|GENE=DSCAML1

Protein Summary

• Protein general information: Q8TD84  
  • Name: Down syndrome cell adhesion molecule like protein 1 (Down syndrome cell adhesion molecule 2)
  • Length: 2053  
  • Mass: 224,463
• Sequence:

  MWLVTFLLLLDSLHKARPEDVGTSLYFVNDSLQQVTFSSSVGVVVPCPAAGSPSAALRWYLATGDDIYDVPHIRH
  VHANGTLQLYPFSPSAFNSFIHDNDYFCTAENAAGKIRSPNIRVKAVFREPYTVRVEDQRSMRGNVAVFKCLIPS
  SVQEYVSVVSWEKDTVSIIPEHRFFITYHGGLYISDVQKEDALSTYRCITKHKYSGETRQSNGARLSVTDPAESI
  PTILDGFHSQEVWAGHTVELPCTASGYPIPAIRWLKDGRPLPADSRWTKRITGLTISDLRTEDSGTYICEVTNTF
  GSAEATGILMVIDPLHVTLTPKKLKTGIGSTVILSCALTGSPEFTIRWYRNTELVLPDEAISIRGLSNETLLITS
  AQKSHSGAYQCFATRKAQTAQDFAIIALEDGTPRIVSSFSEKVVNPGEQFSLMCAAKGAPPPTVTWALDDEPIVR
  DGSHRTNQYTMSDGTTISHMNVTGPQIRDGGVYRCTARNLVGSAEYQARINVRGPPSIRAMRNITAVAGRDTLIN
  CRVIGYPYYSIKWYKDALLLPDNHRQVVFENGTLKLTDVQKGMDEGEYLCSVLIQPQLSISQSVHVAVKVPPLIQ
  PFEFPPASIGQLLYIPCVVSSGDMPIRITWRKDGQVIISGSGVTIESKEFMSSLQISSVSLKHNGNYTCIASNAA
  ATVSRERQLIVRVPPRFVVQPNNQDGIYGKAGVLNCSVDGYPPPKVMWKHAKGSGNPQQYHPVPLTGRIQILPNS
  SLLIRHVLEEDIGYYLCQASNGVGTDISKSMFLTVKIPAMITSHPNTTIAIKGHAKELNCTARGERPIIIRWEKG
  DTVIDPDRVMRYAIATKDNGDEVVSTLKLKPADRGDSVFFSCHAINSYGEDRGLIQLTVQEPPDPPELEIREVKA
  RSMNLRWTQRFDGNSIITGFDIEYKNKSDSWDFKQSTRNISPTINQANIVDLHPASVYSIRMYSFNKIGRSEPSK
  ELTISTEEAAPDGPPMDVTLQPVTSQSIQVTWKAPKKELQNGVIRGYQIGYRENSPGSNGQYSIVEMKATGDSEV
  YTLDNLKKFAQYGVVVQAFNRAGTGPSSSEINATTLEDVPSQPPENVRALSITSDVAVISWSEPPRSTLNGVLKG
  YRVIFWSLYVDGEWGEMQNITTTRERVELRGMEKFTNYSVQVLAYTQAGDGVRSSVLYIQTKEDVPGPPAGIKAV
  PSSASSVVVSWLPPTKPNGVIRKYTIFCSSPGSGQPAPSEYETSPEQLFYRIAHLNRGQQYLLWVAAVTSAGRGN
  SSEKVTIEPAGKAPAKIISFGGTVTTPWMKDVRLPCNSVGDPAPAVKWTKDSEDSAIPVSMDGHRLIHTNGTLLL
  RAVKAEDSGYYTCTATNTGGFDTIIVNLLVQVPPDQPRLTVSKTSASSITLTWIPGDNGGSSIRGFVLQYSVDNS
  EEWKDVFISSSERSFKLDSLKCGTWYKVKLAAKNSVGSGRISEIIEAKTHGREPSFSKDQHLFTHINSTHARLNL
  QGWNNGGCPITAIVLEYRPKGTWAWQGLRANSSGEVFLTELREATWYELRMRACNSAGCGNETAQFATLDYDGST
  IPPIKSAQGEGDDVKKLFTIGCPVILATLGVALLFIVRKKRKEKRLKRLRDAKSLAEMLISKNNRSFDTPVKGPP
  QGPRLHIDIPRVQLLIEDKEGIKQLGDDKATIPVTDAEFSQAVNPQSFCTGVSLHHPTLIQSTGPLIDMSDIRPG
  TNPVSRKNVKSAHSTRNRYSSQWTLTKCQASTPARTLTSDWRTVGSQHGVTVTESDSYSASLSQDTDKGRNSMVS
  TESASSTYEELARAYEHAKLEEQLQHAKFEITECFISDSSSDQMTTGTNENADSMTSMSTPSEPGICRFTASPPK
  PQDADRGKNVAVPIPHRANKSDYCNLPLYAKSEAFFRKADGREPCPVVPPREASIRNLARTYHTQARHLTLDPAS
  KSLGLPHPGAPAAASTATLPQRTLAMPAPPAGTAPPAPGPTPAEPPTAPSAAPPAPSTEPPRAGGPHTKMGGSRD
  SLLEMSTSGVGRSQKQGAGAYSKSYTLV

• Structural information:
  • Protein Domains: Ig-like (19-119)
    Ig-like (115-217)
    Ig-like (226-306)
    Ig-like (314-402)
    Ig-like (408-501)
    Ig-like (506-586)
    Ig-like (596-685)
    (690-)
  • Interpro: IPR033029  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  IPR013106  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 1VA9
  • PDBsum: 1VA9
  • STRING: ENSP00000315465
• Other Databases: GeneCards:  DSCAML1  Malacards:  DSCAML1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001709	cell fate determination	NAS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0007409	axonogenesis	NAS	biological process
GO:0007417	central nervous system development	NAS	biological process
GO:0007420	brain development	IDA	biological process
GO:0009953	dorsal/ventral pattern formation	NAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0048704	embryonic skeletal system morphogenesis	IDA	biological process
GO:0001709	cell fate determination	NAS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007409	axonogenesis	NAS	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007417	central nervous system development	NAS	biological process
GO:0007420	brain development	IDA	biological process
GO:0009953	dorsal/ventral pattern formation	NAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0048704	embryonic skeletal system morphogenesis	IDA	biological process
GO:0001709	cell fate determination	NAS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0007409	axonogenesis	NAS	biological process
GO:0007417	central nervous system development	NAS	biological process
GO:0007420	brain development	IDA	biological process
GO:0009953	dorsal/ventral pattern formation	NAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0048704	embryonic skeletal system morphogenesis	IDA	biological process

Diseases

Associated diseases	References
Poor sperm morphology	MIK: 24271036
Male factor infertility	MIK: 24271036
Cryptorchidism	MIK: 28606200
Poor sperm morphology	MIK: 24271036
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24271036	Poor sperm morphology	DSCAML1 (rs680730), DPF3 (rs10129954)		167 (126 ethnically diverse men, 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men)	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray