• Gene id: 79772

Gene Summary

• Gene Symbol: MCTP1   Gene   UCSC   Ensembl
• Gene name: multiple C2 and transmembrane domain containing 1
• Alternate names: multiple C2 and transmembrane domain-containing protein 1, multiple C2 domains, transmembrane 1, multiple C2-domains with two transmembrane regions 1,
• Gene location: 5q15 (95284574: 94703689)     Exons: 11     NC_000005.10
• OMIM: 616296

Protein Summary

• Protein general information: Q6DN14  
  • Name: Multiple C2 and transmembrane domain containing protein 1
  • Length: 999  
  • Mass: 111624
• Sequence:

  MEPRAAAAGEPEPPAASSSFQARLWKNLQLGVGRSKGGGGGRAGGPERRTADTPSPSPPPPVGTGNAPARGSGAG
  SRWSGFKKRKQVLDRVFSSSQPNLCCSSPEPLEPGGAGRAEQGSTLRRRIREHLLPAVKGPAAASGAAGGTPPGG
  RSPDSAPSSSSASSSLSSSPQPPPRGDRARDEGARRQGPGAHLCHQKSSSLPGTACLEQLLEPPPPPAEPARSPA
  ESRAPETGEEHGSSQKIINTAGTSNAEVPLADPGMYQLDITLRRGQSLAARDRGGTSDPYVKFKIGGKEVFRSKI
  IHKNLNPVWEEKACILVDHLREPLYIKVFDYDFGLQDDFMGSAFLDLTQLELNRPTDVTLTLKDPHYPDHDLGII
  LLSVILTPKEGESRDVTMLMRKSWKRSSKELSENEVVGSYFSVKSLFWRTCGRPALPVLGFCRAELQNPYCKNVQ
  FQTQSLRLSDLHRKSHLWRGIVSITLIEGRDLKAMDSNGLSDPYVKFRLGHQKYKSKIMPKTLNPQWREQFDFHL
  YEERGGVIDITAWDKDAGKRDDFIGRCQVDLSALSREQTHKLELQLEEGEGHLVLLVTLTASATVSISDLSVNSL
  EDQKEREEILKRYSPLRIFHNLKDVGFLQVKVIRAEGLMAADVTGKSDPFCVVELNNDRLLTHTVYKNLNPEWNK
  VFTFNIKDIHSVLEVTVYDEDRDRSADFLGKVAIPLLSIQNGEQKAYVLKNKQLTGPTKGVIYLEIDVIFNAVKA
  SLRTLIPKEQKYIEEENRLSKQLLLRNFIRMKRCVMVLVNAAYYVNSCFDWDSPPRSLAAFVLFLFVVWNFELYM
  IPLVLLLLLTWNYFLIISGKDNRQRDTVVEDMLEDEEEEDDKDDKDSEKKGFINKIYAIQEVCVSVQNILDEVAS
  FGERIKNTFNWTVPFLSWLAIVALCVFTAILYCIPLRYIVLVWGINKFTKKLRSPYAIDNNELLDFLSRVPSDVQ
  VVQYQELKPDPSHSPYKRKKNNLG

• Structural information:
  • Protein Domains: (242..36-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (452..56-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (603..72-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR013583  
  • Prosite: PS50004
  • STRING: ENSP00000424126
• Other Databases: GeneCards:  MCTP1  Malacards:  MCTP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IDA	NOT|molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019722	calcium-mediated signaling	NAS	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0046928	regulation of neurotransmitter secretion	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0055037	recycling endosome	ISS	cellular component
GO:1902883	negative regulation of response to oxidative stress	ISS	biological process
GO:0045806	negative regulation of endocytosis	ISS	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0030672	synaptic vesicle membrane	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:1902883	negative regulation of response to oxidative stress	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0045806	negative regulation of endocytosis	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq