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UMOD uromodulin [ Homo sapiens (human) ]

Gene ID: 7369, updated on 7-Apr-2024

Summary

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Official Symbol
UMODprovided by HGNC
Official Full Name
uromodulinprovided by HGNC
Primary source
HGNC:HGNC:12559
See related
Ensembl:ENSG00000169344 MIM:191845; AllianceGenome:HGNC:12559
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADTKD1; ADMCKD2
Summary
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Restricted expression toward kidney (RPKM 990.9) See more
Orthologs
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Genomic context

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Location:
16p12.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20333051..20356301, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20264004..20287315, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20344373..20364037, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SNRPE pseudogene 3 Neighboring gene glycoprotein 2 Neighboring gene protein disulfide isomerase like, testis expressed Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:20397845-20398378 Neighboring gene acyl-CoA synthetase medium chain family member 5

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. Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone. Jian Z, et al. Urolithiasis, 2023 Apr 6. PMID 37022471
  2. Uromodulin and CKD: insight into variant pathogenicity. Franceschini N, et al. Kidney Int, 2023 Feb. PMID 36681451
  3. A UMOD variant with intermediate effects. Carney EF. Nat Rev Nephrol, 2022 Nov. PMID 36151326
  4. A founder UMOD variant is a common cause of hereditary nephropathy in the British population. Valluru MK, et al. J Med Genet, 2023 Apr. PMID 36038257, Free PMC Article
  5. An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Olinger E, et al. Proc Natl Acad Sci U S A, 2022 Aug 16. PMID 35947615, Free PMC Article

See all (192) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES.
    Title: UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES.
  2. The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.
    Title: The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.
  3. Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene.
    Title: Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene.
  4. Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.
    Title: Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.
  5. Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.
    Title: Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.
  6. A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
    Title: A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
  7. SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease.
    Title: SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease.
  8. Uromodulin and CKD: insight into variant pathogenicity.
    Title: Uromodulin and CKD: insight into variant pathogenicity.
  9. A UMOD variant with intermediate effects.
    Title: A UMOD variant with intermediate effects.
  10. Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults.
    Title: Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults.
Submit: New GeneRIF Correction See all GeneRIFs (152)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
EBI GWAS Catalog
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.
EBI GWAS Catalog
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
EBI GWAS Catalog
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Multiple loci associated with indices of renal function and chronic kidney disease.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
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)

Genotypes

Pathways from PubChem

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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 IgG binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in antibacterial innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to unfolded protein IEA
Inferred from Electronic Annotation
more info
  
involved_in chaperone-mediated protein folding IEA
Inferred from Electronic Annotation
more info
  
involved_in citric acid secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in collecting duct development IEA
Inferred from Electronic Annotation
more info
  
involved_in connective tissue replacement IEA
Inferred from Electronic Annotation
more info
  
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
  
involved_in glomerular filtration IEA
Inferred from Electronic Annotation
more info
  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular chloride ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular phosphate ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in juxtaglomerular apparatus development IEA
Inferred from Electronic Annotation
more info
  
involved_in leukocyte cell-cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in metanephric ascending thin limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in metanephric distal convoluted tubule development IEA
Inferred from Electronic Annotation
more info
  
involved_in metanephric thick ascending limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in micturition IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal response to stress IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in neutrophil migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neutrophil migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in organ or tissue specific immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to vacuole IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport into plasma membrane raft IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of urine volume IEA
Inferred from Electronic Annotation
more info
  
involved_in renal sodium ion absorption IEA
Inferred from Electronic Annotation
more info
  
involved_in renal urate salt excretion IEA
Inferred from Electronic Annotation
more info
  
involved_in renal water homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in response to water deprivation IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in tumor necrosis factor-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in urate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extrinsic component of membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
uromodulin
Names
Tamm-Horsfall urinary glycoprotein
uromucoid

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_008151.1 RefSeqGene

    Range
    5001..24665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008389.3 → NP_001008390.1  uromodulin isoform a preproprotein

    See identical proteins and their annotated locations for NP_001008390.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 all encode the same isoform (a).
    Source sequence(s)
    AK091961, BF593229, DA634392, M17778
    Consensus CDS
    CCDS10583.1
    UniProtKB/Swiss-Prot
    B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0
    UniProtKB/TrEMBL
    X6RBG4
    Related
    ENSP00000460548.1, ENST00000570689.5
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 583
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  2. NM_001278614.2 → NP_001265543.1  uromodulin isoform b preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
    Source sequence(s)
    AK091961, BF593229, DA634392, M17778
    Consensus CDS
    CCDS61876.1
    UniProtKB/TrEMBL
    X6RBG4
    Related
    ENSP00000379438.2, ENST00000396134.6
    Conserved Domains (5) summary
    smart00179
    Location:141 → 182
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:367 → 616
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:496 → 616
    Zona_pellucida; Zona pellucida-like domain
    pfam07645
    Location:98 → 136
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:68 → 96
    EGF_3; EGF domain

  3. NM_001378232.1 → NP_001365161.1  uromodulin isoform a preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 2, and 5, encodes isoform a.
    Source sequence(s)
    AC106796
    Consensus CDS
    CCDS10583.1
    UniProtKB/Swiss-Prot
    B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0
    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 583
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  4. NM_001378233.1 → NP_001365162.1  uromodulin isoform a preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 2, and 4, encodes isoform a.
    Source sequence(s)
    AC106796
    Consensus CDS
    CCDS10583.1
    UniProtKB/Swiss-Prot
    B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0
    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 583
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  5. NM_001378234.1 → NP_001365163.1  uromodulin isoform c preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform c.
    Source sequence(s)
    AC106796
    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  6. NM_001378235.1 → NP_001365164.1  uromodulin isoform c preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform c.
    Source sequence(s)
    AC106796
    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  7. NM_001378237.1 → NP_001365166.1  uromodulin isoform d preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC106796
    Conserved Domains (3) summary
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:120 → 148
    EGF_3; EGF domain
    cl27758
    Location:334 → 443
    Zona_pellucida; Zona pellucida-like domain

  8. NM_003361.4 → NP_003352.2  uromodulin isoform a preproprotein

    See identical proteins and their annotated locations for NP_003352.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 4, and 5 all encode the same isoform (a).
    Source sequence(s)
    AC106796
    Consensus CDS
    CCDS10583.1
    UniProtKB/Swiss-Prot
    B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0
    UniProtKB/TrEMBL
    X6RBG4
    Related
    ENSP00000379442.5, ENST00000396138.9
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 583
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

RNA

  1. NR_165456.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC106796

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20333051..20356301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545938.1 → XP_011544240.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544240.1

    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  2. XM_011545937.1 → XP_011544239.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544239.1

    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

  3. XM_024450433.2 → XP_024306201.1  uromodulin isoform X1

    UniProtKB/TrEMBL
    X6RBG4
    Conserved Domains (4) summary
    smart00179
    Location:108 → 149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334 → 630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65 → 103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:35 → 63
    EGF_3; EGF domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20264004..20287315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313837.1 → XP_054169812.1  uromodulin isoform X1

  2. XM_054313835.1 → XP_054169810.1  uromodulin isoform X1

  3. XM_054313836.1 → XP_054169811.1  uromodulin isoform X1

  4. XM_054313834.1 → XP_054169809.1  uromodulin isoform X1

  5. XM_054313833.1 → XP_054169808.1  uromodulin isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07911.1 GenPept UniProtKB/Swiss-Prot:P07911

Gene LinkOut

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