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UMODL1 uromodulin like 1 [ Homo sapiens (human) ]

Gene ID: 89766, updated on 27-Nov-2024

Summary

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Official Symbol
UMODL1provided by HGNC
Official Full Name
uromodulin like 1provided by HGNC
Primary source
HGNC:HGNC:12560
See related
Ensembl:ENSG00000177398 MIM:613859; AllianceGenome:HGNC:12560
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable calcium ion binding activity and peptidase inhibitor activity. Predicted to act upstream of or within several processes, including cellular response to gonadotropin-releasing hormone; regulation of granulosa cell apoptotic process; and regulation of ovarian follicle development. Predicted to be located in cytoplasm; external side of plasma membrane; and extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See UMODL1 in Genome Data Viewer
Location:
21q22.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42062877..42142996)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40453189..40533058)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43482986..43563106)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13337 Neighboring gene zinc finger and BTB domain containing 21 Neighboring gene ZNF295 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43460101-43460604 Neighboring gene uncharacterized LOC107985502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43461111-43461614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43463997-43464496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43479981-43480564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43480565-43481148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43487460-43488014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43492613-43493114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43493115-43493614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43496211-43496710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43495709-43496210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43501841-43502776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43513487-43513992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43523509-43524067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43524068-43524625 Neighboring gene Sharpr-MPRA regulatory region 15350 Neighboring gene UMODL1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43540119-43540824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43541661-43542598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43542599-43543535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43544863-43545636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43545637-43546408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43613112-43613612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43628760-43629260 Neighboring gene uncharacterized LOC105372814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43640159-43640690 Neighboring gene ATP binding cassette subfamily G member 1 Neighboring gene RNA, 5S ribosomal pseudogene 492

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese. Zhu MM, et al. BMC Med Genet, 2012 Aug 2. PMID 22857148, Free PMC Article
  2. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. Nishizaki R, et al. Eye (Lond), 2009 Jan. PMID 18535602
  3. Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. Shibuya K, et al. Biochem Biophys Res Commun, 2004 Jul 9. PMID 15194491
  4. UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. Di Schiavi E, et al. Eur J Neurosci, 2005 Jun. PMID 16026467
  5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. It was shown that common UMODL1 polymorphisms are unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.
    Title: Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. result suggests that rs283971 is located in the frequent recombinant region on the UMODL1, and that this region might play a critical role in disease susceptibility to high myopia.
    Title: New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  5. Data report the isolation of a novel gene, designated UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on human chromosome 21q22.3.
    Title: Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of uromodulin-like 1 (UMODL1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to gonadotropin-releasing hormone IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of granulosa cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ovarian follicle development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of reproductive process IEA
Inferred from Electronic Annotation
more info
  
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
uromodulin-like 1
Names
olfactorin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055246.2 RefSeqGene

    Range
    13442..85121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001004416.3 → NP_001004416.3  uromodulin-like 1 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AP001620, AP001621, AP001622
    Consensus CDS
    CCDS42936.1
    UniProtKB/Swiss-Prot
    C9JCE6, Q5DIC9, Q5DID0, Q6LA40, Q6LA41, Q8N216
    Related
    ENSP00000386147.2, ENST00000408910.7
    Conserved Domains (8) summary
    smart00179
    Location:897 → 928
    EGF_CA; Calcium-binding EGF-like domain
    cd00063
    Location:703 → 772
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07645
    Location:507 → 537
    EGF_CA; Calcium-binding EGF domain
    pfam00095
    Location:117 → 157
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    pfam00100
    Location:993 → 1233
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:398 → 474
    SEA; SEA domain
    pfam07546
    Location:37 → 97
    EMI; EMI domain
    cl02507
    Location:796 → 883
    SEA; SEA domain

  2. NM_001199527.3 → NP_001186456.2  uromodulin-like 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001620, AP001621, AP001622
    Consensus CDS
    CCDS56215.1
    Related
    ENSP00000383279.1, ENST00000400427.5
    Conserved Domains (8) summary
    smart00179
    Location:953 → 984
    EGF_CA; Calcium-binding EGF-like domain
    cd00063
    Location:759 → 835
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam05109
    Location:490 → 711
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam07645
    Location:435 → 465
    EGF_CA; Calcium-binding EGF domain
    pfam00095
    Location:45 → 85
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    pfam00100
    Location:1049 → 1289
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:326 → 402
    SEA; SEA domain
    cl02507
    Location:852 → 939
    SEA; SEA domain

  3. NM_001199528.4 → NP_001186457.3  uromodulin-like 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AP001620, AP001621, AP001622
    Consensus CDS
    CCDS56214.1
    Related
    ENSP00000383276.1, ENST00000400424.6
    Conserved Domains (6) summary
    smart00179
    Location:825 → 856
    EGF_CA; Calcium-binding EGF-like domain
    cd00063
    Location:631 → 700
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00095
    Location:45 → 85
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    pfam00100
    Location:921 → 1161
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:326 → 402
    SEA; SEA domain
    cl02507
    Location:724 → 811
    SEA; SEA domain

  4. NM_173568.4 → NP_775839.4  uromodulin-like 1 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AP001620, AP001621, AP001622
    Consensus CDS
    CCDS42935.1
    Related
    ENSP00000386126.2, ENST00000408989.6
    Conserved Domains (8) summary
    smart00179
    Location:1025 → 1056
    EGF_CA; Calcium-binding EGF-like domain
    pfam05109
    Location:562 → 783
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam07645
    Location:507 → 537
    EGF_CA; Calcium-binding EGF domain
    pfam00095
    Location:117 → 157
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    pfam00100
    Location:1121 → 1361
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:398 → 474
    SEA; SEA domain
    pfam07546
    Location:37 → 97
    EMI; EMI domain
    cl02507
    Location:924 → 1011
    SEA; SEA domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    42062877..42142996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028507.1 → XP_016883996.1  uromodulin-like 1 isoform X1

    Conserved Domains (7) summary
    smart00179
    Location:921 → 952
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:1017 → 1257
    ZP; Zona pellucida (ZP) domain
    cd00063
    Location:727 → 803
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00095
    Location:15 → 53
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    pfam00100
    Location:1150 → 1257
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:294 → 370
    SEA; SEA domain
    cl02507
    Location:820 → 907
    SEA; SEA domain

  2. XM_011529797.1 → XP_011528099.1  uromodulin-like 1 isoform X2

    See identical proteins and their annotated locations for XP_011528099.1

    Conserved Domains (6) summary
    smart00179
    Location:847 → 878
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:943 → 1183
    ZP; Zona pellucida (ZP) domain
    cd00063
    Location:653 → 729
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00100
    Location:1076 → 1183
    Zona_pellucida; Zona pellucida-like domain
    pfam01390
    Location:220 → 296
    SEA; SEA domain
    cl02507
    Location:746 → 833
    SEA; SEA domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    40453189..40533058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324956.1 → XP_054180931.1  uromodulin-like 1 isoform X1

  2. XM_054324957.1 → XP_054180932.1  uromodulin-like 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5DID0.2 GenPept UniProtKB/Swiss-Prot:Q5DID0

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