IZUM4_HUMAN
ID IZUM4_HUMAN Reviewed; 232 AA.
AC Q1ZYL8; A7RA93; A7RA94; Q6UXA2; Q96FT6; Q96L02;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Izumo sperm-egg fusion protein 4;
DE AltName: Full=Sperm 22 kDa protein c113;
DE Flags: Precursor;
GN Name=IZUMO4; Synonyms=C19orf36; ORFNames=UNQ831/PRO1758;
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] (ISOFORM 2), TISSUE SPECIFICITY, AND VARIANT
RP THR-2.
RA Thompkins T.R., Herr J.C.;
RT "Sperm 22 kDa protein, c113.";
RL Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Sperm;
RA Shetty J., Herr J.C.;
RT "Identification of a putative SAMP14 binding protein.";
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-2.
RA Li H., Nong W., Zhou G., Ke R., Shen C., Zhong G., Liang M., Tang Z.,
RA Huang B., Lin L., Yang S.;
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Brain, and 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: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q1ZYL8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q1ZYL8-2; Sequence=VSP_023150;
CC Name=3;
CC IsoId=Q1ZYL8-3; Sequence=VSP_023147, VSP_023148;
CC Name=4;
CC IsoId=Q1ZYL8-4; Sequence=VSP_023149;
CC -!- TISSUE SPECIFICITY: Detected in sperm. {ECO:0000269|Ref.1}.
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=AAH10443.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY753639; AAX09280.1; -; mRNA.
DR EMBL; DQ196309; ABA28617.1; -; mRNA.
DR EMBL; DQ196310; ABA28618.1; -; mRNA.
DR EMBL; DQ424900; ABD83665.1; -; mRNA.
DR EMBL; AY358444; AAQ88809.1; -; mRNA.
DR EMBL; BC010443; AAH10443.1; ALT_INIT; mRNA.
DR EMBL; BC014609; AAH14609.1; -; mRNA.
DR CCDS; CCDS35499.1; -. [Q1ZYL8-2]
DR CCDS; CCDS42458.1; -. [Q1ZYL8-1]
DR RefSeq; NP_001026905.2; NM_001031735.2. [Q1ZYL8-2]
DR RefSeq; NP_001034935.1; NM_001039846.1. [Q1ZYL8-1]
DR AlphaFoldDB; Q1ZYL8; -.
DR BioGRID; 125229; 1.
DR IntAct; Q1ZYL8; 2.
DR STRING; 9606.ENSP00000378712; -.
DR TCDB; 8.A.55.3.1; the izumo sperm-egg fusion protein 1 (izumo1) family.
DR GlyGen; Q1ZYL8; 2 sites.
DR PhosphoSitePlus; Q1ZYL8; -.
DR BioMuta; IZUMO4; -.
DR DMDM; 126215691; -.
DR MassIVE; Q1ZYL8; -.
DR PaxDb; Q1ZYL8; -.
DR PeptideAtlas; Q1ZYL8; -.
DR PRIDE; Q1ZYL8; -.
DR ProteomicsDB; 61254; -. [Q1ZYL8-1]
DR ProteomicsDB; 61255; -. [Q1ZYL8-2]
DR ProteomicsDB; 61256; -. [Q1ZYL8-3]
DR ProteomicsDB; 61257; -. [Q1ZYL8-4]
DR Antibodypedia; 57175; 61 antibodies from 16 providers.
DR DNASU; 113177; -.
DR Ensembl; ENST00000395301.8; ENSP00000378712.3; ENSG00000099840.14. [Q1ZYL8-1]
DR Ensembl; ENST00000395307.6; ENSP00000378718.2; ENSG00000099840.14. [Q1ZYL8-2]
DR GeneID; 113177; -.
DR KEGG; hsa:113177; -.
DR MANE-Select; ENST00000395301.8; ENSP00000378712.3; NM_001039846.2; NP_001034935.1.
DR UCSC; uc002luw.2; human. [Q1ZYL8-1]
DR CTD; 113177; -.
DR GeneCards; IZUMO4; -.
DR HGNC; HGNC:26950; IZUMO4.
DR HPA; ENSG00000099840; Tissue enriched (testis).
DR MIM; 618897; gene.
DR neXtProt; NX_Q1ZYL8; -.
DR OpenTargets; ENSG00000099840; -.
DR PharmGKB; PA165393578; -.
DR VEuPathDB; HostDB:ENSG00000099840; -.
DR eggNOG; ENOG502SNMJ; Eukaryota.
DR GeneTree; ENSGT00390000015418; -.
DR InParanoid; Q1ZYL8; -.
DR OMA; LHCHNNF; -.
DR OrthoDB; 1110467at2759; -.
DR PhylomeDB; Q1ZYL8; -.
DR TreeFam; TF338561; -.
DR PathwayCommons; Q1ZYL8; -.
DR Reactome; R-HSA-1300645; Acrosome Reaction and Sperm:Oocyte Membrane Binding.
DR SignaLink; Q1ZYL8; -.
DR BioGRID-ORCS; 113177; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; IZUMO4; human.
DR GenomeRNAi; 113177; -.
DR Pharos; Q1ZYL8; Tdark.
DR PRO; PR:Q1ZYL8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q1ZYL8; protein.
DR Bgee; ENSG00000099840; Expressed in left testis and 116 other tissues.
DR ExpressionAtlas; Q1ZYL8; baseline and differential.
DR Genevisible; Q1ZYL8; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR InterPro; IPR029389; IZUMO.
DR Pfam; PF15005; IZUMO; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..15
FT /evidence="ECO:0000255"
FT CHAIN 16..232
FT /note="Izumo sperm-egg fusion protein 4"
FT /id="PRO_0000278186"
FT CARBOHYD 24
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 219
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 124..157
FT /note="SRIDCQHRCGIFQYETISCNNCTDSHVACFGYNC -> RHLAPGSWGGGQLS
FT REGPSLAPEGSMPSPRGDLP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_023147"
FT VAR_SEQ 158..232
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_023148"
FT VAR_SEQ 159..232
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023149"
FT VAR_SEQ 185..203
FT /note="RPRSSAFSWPGTHRATPAF -> S (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1,
FT ECO:0000303|Ref.2"
FT /id="VSP_023150"
FT VARIANT 2
FT /note="A -> T (in dbSNP:rs17851210)"
FT /evidence="ECO:0000269|Ref.1, ECO:0000269|Ref.3"
FT /id="VAR_030683"
FT VARIANT 38
FT /note="F -> L (in dbSNP:rs35585208)"
FT /id="VAR_050911"
FT VARIANT 137
FT /note="Y -> F (in dbSNP:rs45506200)"
FT /id="VAR_061630"
SQ SEQUENCE 232 AA; 26510 MW; 14FC9E0D37BA2ED4 CRC64;
MALLLCLVCL TAALAHGCLH CHSNFSKKFS FYRHHVNFKS WWVGDIPVSG ALLTDWSDDT
MKELHLAIPA KITREKLDQV ATAVYQMMDQ LYQGKMYFPG YFPNELRNIF REQVHLIQNA
IIESRIDCQH RCGIFQYETI SCNNCTDSHV ACFGYNCESS AQWKSAVQGL LNYINNWHKQ
DTSMRPRSSA FSWPGTHRAT PAFLVSPALR CLEPPHLANL TLEDAAECLK QH
