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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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