• Gene id: 89766

Gene Summary

• Gene Symbol: UMODL1   Gene   UCSC   Ensembl
• Gene name: uromodulin like 1
• Alternate names: uromodulin-like 1, olfactorin,
• Gene location: 21q22.3 (42062876: 42143453)     Exons: 27     NC_000021.9

Protein Summary

• Protein general information: Q5DID0  
  • Name: Uromodulin like 1 (Olfactorin)
  • Length: 1318  
  • Mass: 144294
  • Tissue specificity: Isoform 4 is expressed at low level in kidney, testis and fetal thymus. Isoform 3 is expressed at low level in prostate, testis and fetal thymus. {ECO
• Sequence:

  MLRTSGLALLALVSAVGPSQASGFTEKGLSLLGYQLCSHRVTHTVQKVEAVQTSYTSYVSCGGWIPWRRCPKMVY
  RTQYLVVEVPESRNVTDCCEGYEQLGLYCVLPLNQSGQFTSRPGACPAEGPEPSTSPCSLDIDCPGLEKCCPWSG
  GRYCMAPAPQAPERDPVGSWYNVTILVKMDFKELQQVDPRLLNHMRLLHSLVTSALQPMASTVHHLHSAPGNAST
  TVSRLLLGLPRPLPVADVSTLLGDIAKRVYEVISVQVQDVNECFYEELNACSGRELCANLEGSYWCVCHQEAPAT
  SPRKLNLEWEDCPPVSDYVVLNVTSDSFQVSWRLNSTQNHTFHVRVYRGMELLRSARTQSQALAVAGLEAGVLYR
  VKTSYQGCGADVSTTLTIKTNAQVFEVTIKIVNHNLTEKLLNRSSVEYQDFSRQLLHEVESSFPPVVSDLYRSGK
  LRMQIVSLQAGSVVVRLKLTVQDPGFPMGISTLAPILQPLLASTVFQIDRQGTRVQDWDECVDSAEHDCSPAAWC
  INLEGSYTCQCRTTRDATPSRAGRACEGDLVSPMGGGLSAATGVTVPGLGTGTAALGLENFTLSPSPGYPQGTPA
  AGQAWTPEPSPRRGGSNVVGYDRNNTGKGVEQELQGNSIMEPPSWPSPTEDPTGHFLWHATRSTRETLLNPTWLR
  NEDSGPSGSVDLPLTSTLTALKTPACVPVSIGRIMVSNVTSTGFHLAWEADLAMDSTFQLTLTSMWSPAVVLETW
  NTSVTLSGLEPGVLHLVEIMAKACGKEGARAHLKVRTAARKLIGKVRIKNVRYSESFRNASSQEYRDFLELFFRM
  VRGSLPATMCQHMDAGGVRMEVVSVTNGSIVVEFHLLIIADVDVQEVSAAFLTAFQTVPLLEVIRGDTFIQDYDE
  CERKEDDCVPGTSCRNTLGSFTCSCEGGAPDFPVEYSERPCEGDSPGNETWATSPERPLTTAGTKAAFVQGTSPT
  PQGLPQRLNLTGAVRVLCEIEKVVVAIQKRFLQQESIPESSLYLSHPSCNVSHSNGTHVLLEAGWSECGTLMQSN
  MTNTVVRTTLRNDLSQEGIIHHLKILSPIYCAFQNDLLTSSGFTLEWGVYTIIEDLHGAGNFVTEMQLFIGDSPI
  PQNYSVSASDDVRIEVGLYRQKSNLKVVLTECWATPSSNARDPITFSFINNSCPVPNTYTNVIENGNSNKAQFKL
  RIFSFINDSIVYLHCKLRVCMESPGATCKINCNNFRLLQNSETSATHQMSWGPLIRSEGEPPHAEAGLGAGYVVL
  IVVAIFVLVAGTATLLIVRYQRMNGRYNFKIQSNNFSYQVFYE

• Structural information:
  • Protein Domains: (33..10-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (114..15-)
    (/note="WAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00722-)
    (264..31-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR001881  IPR000742  IPR000152  IPR018097  IPR036645   IPR011489  IPR003961  IPR036116  IPR009030  IPR013783  IPR000082  IPR008197  IPR001507  
  • Prosite: PS00010 PS50026 PS01187 PS51041 PS50853 PS50024 PS51390 PS51034
  • CDD: cd00063
  • STRING: ENSP00000386126
• Other Databases: GeneCards:  UMODL1  Malacards:  UMODL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:2000354	regulation of ovarian follicle development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0007338	single fertilization	IEA	biological process
GO:0048609	multicellular organismal reproductive process	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0097211	cellular response to gonadotropin-releasing hormone	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq