UROL1_HUMAN
ID UROL1_HUMAN Reviewed; 1318 AA.
AC Q5DID0; C9JCE6; Q5DIC9; Q6LA40; Q6LA41; Q8N216;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2006, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Uromodulin-like 1;
DE AltName: Full=Olfactorin;
DE Flags: Precursor;
GN Name=UMODL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, ALTERNATIVE SPLICING, AND VARIANTS THR-559; THR-639 AND
RP HIS-1309.
RC TISSUE=Fetal kidney, and Fetal thymus;
RX PubMed=15194491; DOI=10.1016/j.bbrc.2004.05.094;
RA Shibuya K., Nagamine K., Okui M., Ohsawa Y., Asakawa S., Minoshima S.,
RA Hase T., Kudoh J., Shimizu N.;
RT "Initial characterization of an uromodulin-like 1 gene on human chromosome
RT 21q22.3.";
RL Biochem. Biophys. Res. Commun. 319:1181-1189(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANTS ILE-173;
RP HIS-274; ASP-274; GLN-447; THR-559; THR-639; PRO-698; ILE-850; ASN-1027;
RP SER-1068; LYS-1115; ASN-1208 AND HIS-1309.
RX PubMed=16026467; DOI=10.1111/j.1460-9568.2005.04164.x;
RA Di Schiavi E., Riano E., Heye B., Bazzicalupo P., Rugarli E.I.;
RT "UMODL1/olfactorin is an extracellular membrane-bound molecule with a
RT restricted spatial expression in olfactory and vomeronasal neurons.";
RL Eur. J. Neurosci. 21:3291-3300(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC TISSUE=Testis;
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 921-1318, AND VARIANT HIS-1309.
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15194491};
CC Single-pass type I membrane protein {ECO:0000269|PubMed:15194491}.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm.
CC -!- SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Comment=Additional isoforms seem to exist expressed specifically in
CC testis.;
CC Name=1;
CC IsoId=Q5DID0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5DID0-2; Sequence=VSP_017659;
CC Name=3; Synonyms=UMOLD1S;
CC IsoId=Q5DID0-3; Sequence=VSP_017658;
CC Name=4; Synonyms=UMOLD1L;
CC IsoId=Q5DID0-4; Sequence=VSP_017658, VSP_017659;
CC -!- TISSUE SPECIFICITY: Isoform 4 is expressed at low level in kidney,
CC testis and fetal thymus. Isoform 3 is expressed at low level in
CC prostate, testis and fetal thymus. {ECO:0000269|PubMed:15194491}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04211.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB051810; BAD23798.1; -; mRNA.
DR EMBL; AB051811; BAD23799.1; -; mRNA.
DR EMBL; AY771619; AAX14814.1; -; mRNA.
DR EMBL; AY771620; AAX14815.1; -; mRNA.
DR EMBL; AP001620; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001622; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK093654; BAC04211.1; ALT_INIT; mRNA.
DR CCDS; CCDS42935.1; -. [Q5DID0-2]
DR CCDS; CCDS42936.1; -. [Q5DID0-1]
DR CCDS; CCDS56214.1; -. [Q5DID0-3]
DR CCDS; CCDS56215.1; -. [Q5DID0-4]
DR RefSeq; NP_001004416.2; NM_001004416.2. [Q5DID0-1]
DR RefSeq; NP_001186456.1; NM_001199527.1. [Q5DID0-4]
DR RefSeq; NP_001186457.2; NM_001199528.2. [Q5DID0-3]
DR RefSeq; NP_775839.3; NM_173568.3. [Q5DID0-2]
DR RefSeq; XP_016883995.1; XM_017028506.1.
DR AlphaFoldDB; Q5DID0; -.
DR SMR; Q5DID0; -.
DR BioGRID; 124592; 15.
DR STRING; 9606.ENSP00000386126; -.
DR GlyGen; Q5DID0; 10 sites.
DR iPTMnet; Q5DID0; -.
DR PhosphoSitePlus; Q5DID0; -.
DR BioMuta; UMODL1; -.
DR DMDM; 90101849; -.
DR jPOST; Q5DID0; -.
DR MassIVE; Q5DID0; -.
DR PaxDb; Q5DID0; -.
DR PeptideAtlas; Q5DID0; -.
DR PRIDE; Q5DID0; -.
DR ProteomicsDB; 62743; -. [Q5DID0-1]
DR ProteomicsDB; 62744; -. [Q5DID0-2]
DR ProteomicsDB; 62745; -. [Q5DID0-3]
DR ProteomicsDB; 62746; -. [Q5DID0-4]
DR Antibodypedia; 42290; 46 antibodies from 11 providers.
DR DNASU; 89766; -.
DR Ensembl; ENST00000400424.6; ENSP00000383276.1; ENSG00000177398.19. [Q5DID0-3]
DR Ensembl; ENST00000400427.5; ENSP00000383279.1; ENSG00000177398.19. [Q5DID0-4]
DR Ensembl; ENST00000408910.7; ENSP00000386147.2; ENSG00000177398.19. [Q5DID0-1]
DR Ensembl; ENST00000408989.6; ENSP00000386126.2; ENSG00000177398.19. [Q5DID0-2]
DR GeneID; 89766; -.
DR KEGG; hsa:89766; -.
DR MANE-Select; ENST00000408910.7; ENSP00000386147.2; NM_001004416.3; NP_001004416.3.
DR UCSC; uc002zad.2; human. [Q5DID0-1]
DR CTD; 89766; -.
DR DisGeNET; 89766; -.
DR GeneCards; UMODL1; -.
DR HGNC; HGNC:12560; UMODL1.
DR HPA; ENSG00000177398; Tissue enhanced (brain, fallopian tube).
DR MIM; 613859; gene.
DR neXtProt; NX_Q5DID0; -.
DR OpenTargets; ENSG00000177398; -.
DR PharmGKB; PA37200; -.
DR VEuPathDB; HostDB:ENSG00000177398; -.
DR eggNOG; ENOG502QVDQ; Eukaryota.
DR GeneTree; ENSGT00940000159975; -.
DR HOGENOM; CLU_005456_0_0_1; -.
DR InParanoid; Q5DID0; -.
DR OMA; QEHDCEP; -.
DR OrthoDB; 131214at2759; -.
DR PhylomeDB; Q5DID0; -.
DR TreeFam; TF329882; -.
DR PathwayCommons; Q5DID0; -.
DR BioGRID-ORCS; 89766; 8 hits in 1062 CRISPR screens.
DR ChiTaRS; UMODL1; human.
DR GenomeRNAi; 89766; -.
DR Pharos; Q5DID0; Tbio.
DR PRO; PR:Q5DID0; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q5DID0; protein.
DR Bgee; ENSG00000177398; Expressed in right uterine tube and 91 other tissues.
DR ExpressionAtlas; Q5DID0; baseline and differential.
DR Genevisible; Q5DID0; HS.
DR GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
DR GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0030414; F:peptidase inhibitor activity; IEA:InterPro.
DR GO; GO:0060612; P:adipose tissue development; IEA:Ensembl.
DR GO; GO:0097211; P:cellular response to gonadotropin-releasing hormone; IEA:Ensembl.
DR GO; GO:0048609; P:multicellular organismal reproductive process; IEA:Ensembl.
DR GO; GO:1990266; P:neutrophil migration; IBA:GO_Central.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:1904708; P:regulation of granulosa cell apoptotic process; IEA:Ensembl.
DR GO; GO:2000354; P:regulation of ovarian follicle development; IEA:Ensembl.
DR GO; GO:0007338; P:single fertilization; IEA:Ensembl.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 2.60.40.4100; -; 1.
DR Gene3D; 4.10.75.10; -; 1.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR036645; Elafin-like_sf.
DR InterPro; IPR011489; EMI_domain.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR000082; SEA_dom.
DR InterPro; IPR008197; WAP_dom.
DR InterPro; IPR042235; ZP-C.
DR InterPro; IPR001507; ZP_dom.
DR Pfam; PF07645; EGF_CA; 3.
DR Pfam; PF01390; SEA; 1.
DR Pfam; PF00095; WAP; 1.
DR Pfam; PF00100; Zona_pellucida; 1.
DR PRINTS; PR00023; ZPELLUCIDA.
DR SMART; SM00179; EGF_CA; 3.
DR SMART; SM00060; FN3; 2.
DR SMART; SM00217; WAP; 1.
DR SMART; SM00241; ZP; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR SUPFAM; SSF57184; SSF57184; 1.
DR SUPFAM; SSF57256; SSF57256; 1.
DR PROSITE; PS00010; ASX_HYDROXYL; 3.
DR PROSITE; PS50026; EGF_3; 2.
DR PROSITE; PS01187; EGF_CA; 3.
DR PROSITE; PS51041; EMI; 1.
DR PROSITE; PS50853; FN3; 2.
DR PROSITE; PS50024; SEA; 2.
DR PROSITE; PS51390; WAP; 1.
DR PROSITE; PS51034; ZP_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell membrane; Cytoplasm; Disulfide bond;
KW EGF-like domain; Glycoprotein; Membrane; Reference proteome; Repeat;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..1318
FT /note="Uromodulin-like 1"
FT /id="PRO_0000228127"
FT TOPO_DOM 22..1272
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1273..1293
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1294..1318
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 33..106
FT /note="EMI"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT DOMAIN 114..158
FT /note="WAP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00722"
FT DOMAIN 264..313
FT /note="EGF-like 1; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 314..398
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 396..510
FT /note="SEA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00188"
FT DOMAIN 507..552
FT /note="EGF-like 2; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 702..791
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 788..900
FT /note="SEA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00188"
FT DOMAIN 897..938
FT /note="EGF-like 3; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 992..1235
FT /note="ZP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00375"
FT REGION 593..655
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 938..957
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 619..644
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 89
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 109
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 172
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 322
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 335
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 417
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 585
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 713
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 984
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1050
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 37..94
FT /evidence="ECO:0000255"
FT DISULFID 61..70
FT /evidence="ECO:0000255"
FT DISULFID 93..104
FT /evidence="ECO:0000255"
FT DISULFID 511..525
FT /evidence="ECO:0000250"
FT DISULFID 519..534
FT /evidence="ECO:0000250"
FT DISULFID 536..551
FT /evidence="ECO:0000250"
FT DISULFID 901..914
FT /evidence="ECO:0000250"
FT DISULFID 908..923
FT /evidence="ECO:0000250"
FT DISULFID 1157..1215
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..72
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15194491"
FT /id="VSP_017658"
FT VAR_SEQ 633
FT /note="E -> EVPSTAPGLGMDQGSPSQVNPSQGSPSQGSLRQESTSQASPSQRSTS
FT QGSPSQVNPSQRSTSHANSSQGSPSQGSPSQESPSQGSTSQASPSHRNTIGVIGTTSSP
FT KATGSTHSFPPGATDGPLALPGQ (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15194491,
FT ECO:0000303|PubMed:16026467"
FT /id="VSP_017659"
FT VARIANT 173
FT /note="V -> I (in dbSNP:rs73371577)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025668"
FT VARIANT 274
FT /note="N -> D (in dbSNP:rs17114359)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025669"
FT VARIANT 274
FT /note="N -> H (in dbSNP:rs17114359)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025670"
FT VARIANT 447
FT /note="R -> Q (in dbSNP:rs146310440)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025671"
FT VARIANT 559
FT /note="M -> T (in dbSNP:rs220126)"
FT /evidence="ECO:0000269|PubMed:15194491,
FT ECO:0000269|PubMed:16026467"
FT /id="VAR_025672"
FT VARIANT 639
FT /note="I -> T (in dbSNP:rs220129)"
FT /evidence="ECO:0000269|PubMed:15194491,
FT ECO:0000269|PubMed:16026467"
FT /id="VAR_025673"
FT VARIANT 698
FT /note="T -> P (in dbSNP:rs220130)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025674"
FT VARIANT 850
FT /note="V -> I (in dbSNP:rs220146)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025675"
FT VARIANT 1027
FT /note="S -> N (in dbSNP:rs150611312)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025676"
FT VARIANT 1068
FT /note="G -> S (in dbSNP:rs111996953)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025677"
FT VARIANT 1115
FT /note="E -> K (in dbSNP:rs80040922)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025678"
FT VARIANT 1208
FT /note="D -> N (in dbSNP:rs220159)"
FT /evidence="ECO:0000269|PubMed:16026467"
FT /id="VAR_025679"
FT VARIANT 1309
FT /note="N -> H (in dbSNP:rs3819142)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15194491, ECO:0000269|PubMed:16026467"
FT /id="VAR_025680"
FT VARIANT Q5DID0-2:644
FT /note="D -> E (in dbSNP:rs111772429)"
FT /evidence="ECO:0000305"
FT /id="VAR_082944"
FT VARIANT Q5DID0-2:691
FT /note="R -> G (in dbSNP:rs220127)"
FT /evidence="ECO:0000305"
FT /id="VAR_082945"
FT VARIANT Q5DID0-2:741
FT /note="T -> P (in dbSNP:rs220128)"
FT /evidence="ECO:0000305"
FT /id="VAR_082946"
SQ SEQUENCE 1318 AA; 144294 MW; 6F8ABA3E11C7475D CRC64;
MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQELQGNSIM EPPSWPSPTE DPTGHFLWHA
TRSTRETLLN PTWLRNEDSG PSGSVDLPLT STLTALKTPA CVPVSIGRIM VSNVTSTGFH
LAWEADLAMD STFQLTLTSM WSPAVVLETW NTSVTLSGLE PGVLHLVEIM AKACGKEGAR
AHLKVRTAAR KLIGKVRIKN VRYSESFRNA SSQEYRDFLE LFFRMVRGSL PATMCQHMDA
GGVRMEVVSV TNGSIVVEFH LLIIADVDVQ EVSAAFLTAF QTVPLLEVIR GDTFIQDYDE
CERKEDDCVP GTSCRNTLGS FTCSCEGGAP DFPVEYSERP CEGDSPGNET WATSPERPLT
TAGTKAAFVQ GTSPTPQGLP QRLNLTGAVR VLCEIEKVVV AIQKRFLQQE SIPESSLYLS
HPSCNVSHSN GTHVLLEAGW SECGTLMQSN MTNTVVRTTL RNDLSQEGII HHLKILSPIY
CAFQNDLLTS SGFTLEWGVY TIIEDLHGAG NFVTEMQLFI GDSPIPQNYS VSASDDVRIE
VGLYRQKSNL KVVLTECWAT PSSNARDPIT FSFINNSCPV PNTYTNVIEN GNSNKAQFKL
RIFSFINDSI VYLHCKLRVC MESPGATCKI NCNNFRLLQN SETSATHQMS WGPLIRSEGE
PPHAEAGLGA GYVVLIVVAI FVLVAGTATL LIVRYQRMNG RYNFKIQSNN FSYQVFYE
