IZUM2_HUMAN
ID IZUM2_HUMAN Reviewed; 221 AA.
AC Q6UXV1; Q5GRG3; Q5GRG4; Q6ZNM5; Q8NHR8;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Izumo sperm-egg fusion protein 2;
DE Flags: Precursor;
GN Name=IZUMO2; Synonyms=C19orf41, SCRL; ORFNames=UNQ6978/PRO21961;
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 [GENOMIC DNA].
RA Scorilas A.;
RT "Molecular characterization, cloning, physical mapping, and expression
RT analysis of a novel gene, SCRL, which is highly expressed in prostate,
RT testis and trachea and down regulated in different malignancies.";
RL Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-221.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6UXV1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UXV1-2; Sequence=VSP_027043;
CC -!- MISCELLANEOUS: Izumo is the name of a Japanese shrine to marriage.
CC -!- SIMILARITY: Belongs to the Izumo family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ05826.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAQ05827.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF479645; AAQ05826.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AF479645; AAQ05827.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AY358196; AAQ88563.1; -; mRNA.
DR EMBL; AK131024; BAC85478.1; -; mRNA.
DR EMBL; BC029535; AAH29535.2; -; mRNA.
DR CCDS; CCDS12792.2; -. [Q6UXV1-1]
DR RefSeq; NP_001308378.1; NM_001321449.1.
DR RefSeq; NP_689571.2; NM_152358.2. [Q6UXV1-1]
DR AlphaFoldDB; Q6UXV1; -.
DR SMR; Q6UXV1; -.
DR BioGRID; 125957; 2.
DR STRING; 9606.ENSP00000293405; -.
DR TCDB; 8.A.55.2.1; the izumo sperm-egg fusion protein 1 (izumo1) family.
DR GlyGen; Q6UXV1; 1 site.
DR iPTMnet; Q6UXV1; -.
DR PhosphoSitePlus; Q6UXV1; -.
DR BioMuta; IZUMO2; -.
DR DMDM; 74738278; -.
DR MassIVE; Q6UXV1; -.
DR PaxDb; Q6UXV1; -.
DR PeptideAtlas; Q6UXV1; -.
DR PRIDE; Q6UXV1; -.
DR ProteomicsDB; 67666; -. [Q6UXV1-1]
DR ProteomicsDB; 67667; -. [Q6UXV1-2]
DR Antibodypedia; 49261; 29 antibodies from 12 providers.
DR DNASU; 126123; -.
DR Ensembl; ENST00000293405.8; ENSP00000293405.3; ENSG00000161652.13. [Q6UXV1-1]
DR GeneID; 126123; -.
DR KEGG; hsa:126123; -.
DR MANE-Select; ENST00000293405.8; ENSP00000293405.3; NM_152358.3; NP_689571.2.
DR UCSC; uc002prp.2; human. [Q6UXV1-1]
DR CTD; 126123; -.
DR GeneCards; IZUMO2; -.
DR HGNC; HGNC:28518; IZUMO2.
DR HPA; ENSG00000161652; Tissue enriched (testis).
DR MIM; 618895; gene.
DR neXtProt; NX_Q6UXV1; -.
DR OpenTargets; ENSG00000161652; -.
DR PharmGKB; PA165393535; -.
DR VEuPathDB; HostDB:ENSG00000161652; -.
DR eggNOG; ENOG502S57B; Eukaryota.
DR GeneTree; ENSGT00390000015068; -.
DR HOGENOM; CLU_104457_0_0_1; -.
DR InParanoid; Q6UXV1; -.
DR OMA; AVFMFMV; -.
DR OrthoDB; 1528398at2759; -.
DR PhylomeDB; Q6UXV1; -.
DR TreeFam; TF337020; -.
DR PathwayCommons; Q6UXV1; -.
DR Reactome; R-HSA-1300645; Acrosome Reaction and Sperm:Oocyte Membrane Binding.
DR BioGRID-ORCS; 126123; 10 hits in 1057 CRISPR screens.
DR ChiTaRS; IZUMO2; human.
DR GenomeRNAi; 126123; -.
DR Pharos; Q6UXV1; Tdark.
DR PRO; PR:Q6UXV1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6UXV1; protein.
DR Bgee; ENSG00000161652; Expressed in left testis and 79 other tissues.
DR ExpressionAtlas; Q6UXV1; baseline and differential.
DR Genevisible; Q6UXV1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029389; IZUMO.
DR InterPro; IPR042920; IZUMO2.
DR PANTHER; PTHR47745; PTHR47745; 1.
DR Pfam; PF15005; IZUMO; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..221
FT /note="Izumo sperm-egg fusion protein 2"
FT /id="PRO_0000295736"
FT TOPO_DOM 21..186
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 208..221
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 91
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 136..221
FT /note="KLCRLLKEEVLDCLHCQRITPKCIHKKYCFVDRQPRVALQYQMDSKYPRNQA
FT LLGILISVSLAVFVFVVIVVSACTYRQNRKLLLQ -> AWPCSTRWTANTRGTRRCWAS
FT SFLCLWLSLSSWSSWSRLVHTDKTENSCCSRTVVWG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027043"
FT VARIANT 139
FT /note="R -> C (in dbSNP:rs3745498)"
FT /id="VAR_050912"
SQ SEQUENCE 221 AA; 24856 MW; A2C3DE7E994AFF39 CRC64;
MPLALTLLLL SGLGAPGGWG CLQCDPLVLE ALGHLRSALI PSRFQLEQLQ ARAGAVLMGM
EGPFFRDYAL NVFVGKVETN QLDLVASFVK NQTQHLMGNS LKDEPLLEEL VTLRANVIKE
FKKVLISYEL KACNPKLCRL LKEEVLDCLH CQRITPKCIH KKYCFVDRQP RVALQYQMDS
KYPRNQALLG ILISVSLAVF VFVVIVVSAC TYRQNRKLLL Q
