UMODL1 (uromodulin like 1)

Gene

• Entrez ID: 89766
• Gene name: Uromodulin like 1
• Gene symbol: UMODL1
• Synonyms (NCBI Gene): -
• Chromosome: 21
• Chromosome location: 21q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1474916	hsa-miR-1539	CLIP-seq
MIRT1474917	hsa-miR-3667-3p	CLIP-seq
MIRT1474918	hsa-miR-4421	CLIP-seq
MIRT1474919	hsa-miR-4639-5p	CLIP-seq
MIRT1474920	hsa-miR-4760-3p	CLIP-seq
MIRT1474921	hsa-miR-578	CLIP-seq
MIRT1474922	hsa-miR-596	CLIP-seq
MIRT1474923	hsa-miR-664	CLIP-seq
MIRT2462909	hsa-miR-1276	CLIP-seq
MIRT2462910	hsa-miR-4311	CLIP-seq
MIRT2462911	hsa-miR-4495	CLIP-seq
MIRT2462912	hsa-miR-4765	CLIP-seq
MIRT2462913	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0097211	Process	Cellular response to gonadotropin-releasing hormone	IEA
GO:1904708	Process	Regulation of granulosa cell apoptotic process	IEA
GO:2000241	Process	Regulation of reproductive process	IEA
GO:2000354	Process	Regulation of ovarian follicle development	IEA

Other IDs

• MIM: 613859
• HGNC: 12560
• e!Ensembl: ENSG00000177398

Protein

• UniProt ID: Q5DID0
• Protein name: Uromodulin-like 1 (Olfactorin)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00095	WAP	117 → 157		Domain
  PF07645	EGF_CA	264 → 301	Calcium-binding EGF domain	Domain
  PF01390	SEA	398 → 479	SEA domain	Family
  PF07645	EGF_CA	507 → 551	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	897 → 941	Calcium-binding EGF domain	Domain
  PF00100	Zona_pellucida	993 → 1233	Zona pellucida-like domain	Family

• Tissue specificity: 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:0000269|PubMed:15194491}.
• Sequence:

  MLRTSGLALLALVSAVGPSQASGFTEKGLSLLGYQLCSHRVTHTVQKVEAVQTSYTSYVS
  CGGWIPWRRCPKMVYRTQYLVVEVPESRNVTDCCEGYEQLGLYCVLPLNQSGQFTSRPGA
  CPAEGPEPSTSPCSLDIDCPGLEKCCPWSGGRYCMAPAPQAPERDPVGSWYNVTILVKMD
  FKELQQVDPRLLNHMRLLHSLVTSALQPMASTVHHLHSAPGNASTTVSRLLLGLPRPLPV
  ADVSTLLGDIAKRVYEVISVQVQDVNECFYEELNACSGRELCANLEGSYWCVCHQEAPAT
  SPRKLNLEWEDCPPVSDYVVLNVTSDSFQVSWRLNSTQNHTFHVRVYRGMELLRSARTQS
  QALAVAGLEAGVLYRVKTSYQGCGADVSTTLTIKTNAQVFEVTIKIVNHNLTEKLLNRSS
  VEYQDFSRQLLHEVESSFPPVVSDLYRSGKLRMQIVSLQAGSVVVRLKLTVQDPGFPMGI
  STLAPILQPLLASTVFQIDRQGTRVQDWDECVDSAEHDCSPAAWCINLEGSYTCQCRTTR
  DATPSRAGRACEGDLVSPMGGGLSAATGVTVPGLGTGTAALGLENFTLSPSPGYPQGTPA
  AGQAWTPEPSPRRGGSNVVGYDRNNTGKGVEQELQGNSIMEPPSWPSPTEDPTGHFLWHA
  TRSTRETLLNPTWLRNEDSGPSGSVDLPLTSTLTALKTPACVPVSIGRIMVSNVTSTGFH
  LAWEADLAMDSTFQLTLTSMWSPAVVLETWNTSVTLSGLEPGVLHLVEIMAKACGKEGAR
  AHLKVRTAARKLIGKVRIKNVRYSESFRNASSQEYRDFLELFFRMVRGSLPATMCQHMDA
  GGVRMEVVSVTNGSIVVEFHLLIIADVDVQEVSAAFLTAFQTVPLLEVIRGDTFIQDYDE
  CERKEDDCVPGTSCRNTLGSFTCSCEGGAPDFPVEYSERPCEGDSPGNETWATSPERPLT
  TAGTKAAFVQGTSPTPQGLPQRLNLTGAVRVLCEIEKVVVAIQKRFLQQESIPESSLYLS
  HPSCNVSHSNGTHVLLEAGWSECGTLMQSNMTNTVVRTTLRNDLSQEGIIHHLKILSPIY
  CAFQNDLLTSSGFTLEWGVYTIIEDLHGAGNFVTEMQLFIGDSPIPQNYSVSASDDVRIE
  VGLYRQKSNLKVVLTECWATPSSNARDPITFSFINNSCPVPNTYTNVIENGNSNKAQFKL
  RIFSFINDSIVYLHCKLRVCMESPGATCKINCNNFRLLQNSETSATHQMSWGPLIRSEGE
  PPHAEAGLGAGYVVLIVVAIFVLVAGTATLLIVRYQRMNGRYNFKIQSNNFSYQVFYE

• Sequence length: 1318

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	26942882	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23539754		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	18535602		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	22857148	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	18535602, 22857148		★☆☆☆☆ Found in Text Mining only