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Protein

Uromodulin-like 1

Gene

UMODL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Uromodulin-like 1
Alternative name(s):
Olfactorin
Gene namesi
Name:UMODL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:12560. UMODL1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 1272ExtracellularSequence analysisAdd BLAST1251
Transmembranei1273 – 1293HelicalSequence analysisAdd BLAST21
Topological domaini1294 – 1318CytoplasmicSequence analysisAdd BLAST25

GO - Cellular componenti

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi89766.
OpenTargetsiENSG00000177398.
PharmGKBiPA37200.

Polymorphism and mutation databases

BioMutaiUMODL1.
DMDMi90101849.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000022812722 – 1318Uromodulin-like 1Add BLAST1297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi37 ↔ 94Sequence analysis
Disulfide bondi61 ↔ 70Sequence analysis
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi93 ↔ 104Sequence analysis
Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi172N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi322N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi417N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi511 ↔ 525By similarity
Disulfide bondi519 ↔ 534By similarity
Disulfide bondi536 ↔ 551By similarity
Glycosylationi585N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi713N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi901 ↔ 914By similarity
Disulfide bondi908 ↔ 923By similarity
Glycosylationi984N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1050N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1157 ↔ 1215By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ5DID0.
PeptideAtlasiQ5DID0.
PRIDEiQ5DID0.

PTM databases

iPTMnetiQ5DID0.
PhosphoSitePlusiQ5DID0.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000177398.
CleanExiHS_UMODL1.
ExpressionAtlasiQ5DID0. baseline and differential.
GenevisibleiQ5DID0. HS.

Organism-specific databases

HPAiHPA067245.

Structurei

3D structure databases

ProteinModelPortaliQ5DID0.
SMRiQ5DID0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 106EMIPROSITE-ProRule annotationAdd BLAST74
Domaini114 – 158WAPPROSITE-ProRule annotationAdd BLAST45
Domaini264 – 313EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST50
Domaini314 – 398Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST85
Domaini396 – 510SEA 1PROSITE-ProRule annotationAdd BLAST115
Domaini507 – 552EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST46
Domaini702 – 791Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST90
Domaini788 – 900SEA 2PROSITE-ProRule annotationAdd BLAST113
Domaini897 – 938EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini992 – 1235ZPPROSITE-ProRule annotationAdd BLAST244

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IKUZ. Eukaryota.
ENOG41121YH. LUCA.
GeneTreeiENSGT00730000111222.
HOGENOMiHOG000154798.
HOVERGENiHBG094137.
InParanoidiQ5DID0.
OMAiRCPKTVY.
OrthoDBiEOG091G00HI.
PhylomeDBiQ5DID0.
TreeFamiTF329882.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
3.30.70.960. 2 hits.
InterProiView protein in InterPro
IPR001881. EGF-like_Ca-bd_dom.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR011489. EMI_domain.
IPR003961. FN3_dom.
IPR009030. Growth_fac_rcpt_.
IPR013783. Ig-like_fold.
IPR000082. SEA_dom.
IPR008197. WAP_dom.
IPR001507. ZP_dom.
PfamiView protein in Pfam
PF07645. EGF_CA. 3 hits.
PF01390. SEA. 1 hit.
PF00095. WAP. 1 hit.
PF00100. Zona_pellucida. 1 hit.
PRINTSiPR00023. ZPELLUCIDA.
SMARTiView protein in SMART
SM00179. EGF_CA. 3 hits.
SM00060. FN3. 2 hits.
SM00217. WAP. 1 hit.
SM00241. ZP. 1 hit.
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF57184. SSF57184. 2 hits.
SSF57256. SSF57256. 1 hit.
PROSITEiView protein in PROSITE
PS00010. ASX_HYDROXYL. 3 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 3 hits.
PS51041. EMI. 1 hit.
PS50853. FN3. 2 hits.
PS50024. SEA. 2 hits.
PS51390. WAP. 1 hit.
PS51034. ZP_2. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist expressed specifically in testis.
Isoform 1 (identifier: Q5DID0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA
60 70 80 90 100
VQTSYTSYVS CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL
110 120 130 140 150
GLYCVLPLNQ SGQFTSRPGA CPAEGPEPST SPCSLDIDCP GLEKCCPWSG
160 170 180 190 200
GRYCMAPAPQ APERDPVGSW YNVTILVKMD FKELQQVDPR LLNHMRLLHS
210 220 230 240 250
LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV ADVSTLLGDI
260 270 280 290 300
AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
310 320 330 340 350
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM
360 370 380 390 400
ELLRSARTQS QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF
410 420 430 440 450
EVTIKIVNHN LTEKLLNRSS VEYQDFSRQL LHEVESSFPP VVSDLYRSGK
460 470 480 490 500
LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI STLAPILQPL LASTVFQIDR
510 520 530 540 550
QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR DATPSRAGRA
560 570 580 590 600
CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
610 620 630 640 650
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQELQGNSIM EPPSWPSPTE
660 670 680 690 700
DPTGHFLWHA TRSTRETLLN PTWLRNEDSG PSGSVDLPLT STLTALKTPA
710 720 730 740 750
CVPVSIGRIM VSNVTSTGFH LAWEADLAMD STFQLTLTSM WSPAVVLETW
760 770 780 790 800
NTSVTLSGLE PGVLHLVEIM AKACGKEGAR AHLKVRTAAR KLIGKVRIKN
810 820 830 840 850
VRYSESFRNA SSQEYRDFLE LFFRMVRGSL PATMCQHMDA GGVRMEVVSV
860 870 880 890 900
TNGSIVVEFH LLIIADVDVQ EVSAAFLTAF QTVPLLEVIR GDTFIQDYDE
910 920 930 940 950
CERKEDDCVP GTSCRNTLGS FTCSCEGGAP DFPVEYSERP CEGDSPGNET
960 970 980 990 1000
WATSPERPLT TAGTKAAFVQ GTSPTPQGLP QRLNLTGAVR VLCEIEKVVV
1010 1020 1030 1040 1050
AIQKRFLQQE SIPESSLYLS HPSCNVSHSN GTHVLLEAGW SECGTLMQSN
1060 1070 1080 1090 1100
MTNTVVRTTL RNDLSQEGII HHLKILSPIY CAFQNDLLTS SGFTLEWGVY
1110 1120 1130 1140 1150
TIIEDLHGAG NFVTEMQLFI GDSPIPQNYS VSASDDVRIE VGLYRQKSNL
1160 1170 1180 1190 1200
KVVLTECWAT PSSNARDPIT FSFINNSCPV PNTYTNVIEN GNSNKAQFKL
1210 1220 1230 1240 1250
RIFSFINDSI VYLHCKLRVC MESPGATCKI NCNNFRLLQN SETSATHQMS
1260 1270 1280 1290 1300
WGPLIRSEGE PPHAEAGLGA GYVVLIVVAI FVLVAGTATL LIVRYQRMNG
1310
RYNFKIQSNN FSYQVFYE
Length:1,318
Mass (Da):144,294
Last modified:March 21, 2006 - v2
Checksum:i6F8ABA3E11C7475D
GO
Isoform 2 (identifier: Q5DID0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     633-633: E → EVPSTAPGLG...TDGPLALPGQ

Show »
Length:1,446
Mass (Da):156,884
Checksum:i92A6CBB29501D164
GO
Isoform 3 (identifier: Q5DID0-3) [UniParc]FASTAAdd to basket
Also known as: UMOLD1S

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: Missing.

Show »
Length:1,246
Mass (Da):136,528
Checksum:i239FB818B187C4A5
GO
Isoform 4 (identifier: Q5DID0-4) [UniParc]FASTAAdd to basket
Also known as: UMOLD1L

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: Missing.
     633-633: E → EVPSTAPGLG...TDGPLALPGQ

Show »
Length:1,374
Mass (Da):149,118
Checksum:iB8F838BEA34FE48D
GO

Sequence cautioni

The sequence BAC04211 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025668173V → L1 Publication1
Natural variantiVAR_025669274N → D1 PublicationCorresponds to variant dbSNP:rs17114359Ensembl.1
Natural variantiVAR_025670274N → H1 PublicationCorresponds to variant dbSNP:rs17114359Ensembl.1
Natural variantiVAR_025671447R → Q1 PublicationCorresponds to variant dbSNP:rs146310440Ensembl.1
Natural variantiVAR_025672559M → T2 PublicationsCorresponds to variant dbSNP:rs220126Ensembl.1
Natural variantiVAR_025673639I → T2 PublicationsCorresponds to variant dbSNP:rs220129Ensembl.1
Natural variantiVAR_025674698T → P1 PublicationCorresponds to variant dbSNP:rs220130Ensembl.1
Natural variantiVAR_025675850V → I1 PublicationCorresponds to variant dbSNP:rs220146Ensembl.1
Natural variantiVAR_0256761027S → N1 PublicationCorresponds to variant dbSNP:rs150611312Ensembl.1
Natural variantiVAR_0256771068G → S1 PublicationCorresponds to variant dbSNP:rs111996953Ensembl.1
Natural variantiVAR_0256781115E → K1 PublicationCorresponds to variant dbSNP:rs80040922Ensembl.1
Natural variantiVAR_0256791208D → N1 PublicationCorresponds to variant dbSNP:rs220159Ensembl.1
Natural variantiVAR_0256801309N → H3 PublicationsCorresponds to variant dbSNP:rs3819142Ensembl.1
Isoform 2 (identifier: Q5DID0-2)
Natural varianti644D → E. 1
Natural varianti691R → G. Corresponds to variant dbSNP:rs220127Ensembl.1
Natural varianti741T → P. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0176581 – 72Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST72
Alternative sequenceiVSP_017659633E → EVPSTAPGLGMDQGSPSQVN PSQGSPSQGSLRQESTSQAS PSQRSTSQGSPSQVNPSQRS TSHANSSQGSPSQGSPSQES PSQGSTSQASPSHRNTIGVI GTTSSPKATGSTHSFPPGAT DGPLALPGQ in isoform 2 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051810 mRNA. Translation: BAD23798.1.
AB051811 mRNA. Translation: BAD23799.1.
AY771619 mRNA. Translation: AAX14814.1.
AY771620 mRNA. Translation: AAX14815.1.
AP001620 Genomic DNA. No translation available.
AP001621 Genomic DNA. No translation available.
AP001622 Genomic DNA. No translation available.
AK093654 mRNA. Translation: BAC04211.1. Different initiation.
CCDSiCCDS42935.1. [Q5DID0-2]
CCDS42936.1. [Q5DID0-1]
CCDS56214.1. [Q5DID0-3]
CCDS56215.1. [Q5DID0-4]
RefSeqiNP_001004416.2. NM_001004416.2.
NP_001186456.1. NM_001199527.1.
NP_001186457.2. NM_001199528.2.
NP_775839.3. NM_173568.3.
XP_016883995.1. XM_017028506.1. [Q5DID0-4]
UniGeneiHs.242520.

Genome annotation databases

EnsembliENST00000400424; ENSP00000383276; ENSG00000177398. [Q5DID0-3]
ENST00000400427; ENSP00000383279; ENSG00000177398. [Q5DID0-4]
ENST00000408910; ENSP00000386147; ENSG00000177398. [Q5DID0-1]
ENST00000408989; ENSP00000386126; ENSG00000177398. [Q5DID0-2]
GeneIDi89766.
KEGGihsa:89766.
UCSCiuc002zad.2. human. [Q5DID0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiUROL1_HUMAN
AccessioniPrimary (citable) accession number: Q5DID0
Secondary accession number(s): C9JCE6
, Q5DIC9, Q6LA40, Q6LA41, Q8N216
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 21, 2006
Last modified: July 5, 2017
This is version 114 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot