SPESP_HUMAN
ID SPESP_HUMAN Reviewed; 350 AA.
AC Q6UW49; Q8NG22; Q8WVH8;
DT 08-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Sperm equatorial segment protein 1 {ECO:0000312|HGNC:HGNC:15570};
DE Short=SP-ESP {ECO:0000303|PubMed:12773409};
DE AltName: Full=Equatorial segment protein {ECO:0000303|PubMed:12773409};
DE Short=ESP {ECO:0000303|PubMed:12773409};
DE AltName: Full=Glycosylated 38 kDa sperm protein C-7/8;
DE Flags: Precursor;
GN Name=SPESP1 {ECO:0000312|HGNC:HGNC:15570}; ORFNames=UNQ732/PRO1418;
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], PROTEIN SEQUENCE OF 179-186; 264-274; 310-317
RP AND 328-335, IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY, AND VARIANT GLU-191.
RX PubMed=12773409; DOI=10.1095/biolreprod.103.016675;
RA Wolkowicz M.J., Shetty J., Westbrook A., Klotz K., Jayes F., Mandal A.,
RA Flickinger C.J., Herr J.C.;
RT "Equatorial segment protein defines a discrete acrosomal subcompartment
RT persisting throughout acrosomal biogenesis.";
RL Biol. Reprod. 69:735-745(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLU-191.
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 GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
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 -!- FUNCTION: Involved in fertilization ability of sperm.
CC {ECO:0000250|UniProtKB:Q9D5A0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000269|PubMed:12773409}. Note=Small proacrosomal granules (during
CC the Golgi phase), enlarged acrosomal vesicles (during the cap phase),
CC acrosome (during the elongating phase), equatorial segment of the
CC acrosome (during the maturation phase) (PubMed:12773409). After
CC acrosome reaction localizes to the equatorial segment region in both
CC noncapacitated and capacitated, acrosome-reacted sperm (By similarity).
CC {ECO:0000250|UniProtKB:Q9D5A0, ECO:0000269|PubMed:12773409}.
CC -!- TISSUE SPECIFICITY: Highly expressed in testis, where it is localized
CC in the acrosome of postmeiotic stages of spermiogenesis (round and
CC elongating spermatids and in ejaculated spermatozoa) (at protein
CC level). Poorly expressed in placenta and fetal lung.
CC {ECO:0000269|PubMed:12773409}.
CC -!- PTM: Glycosylated. In testis there are two predominant forms of 77- and
CC 67-kDa and a form of 47-kDa, whereas in epididymal sperm from caput,
CC corpus, and cauda there are two forms of 47- and 43-kDa. Testis forms
CC contain complex carbohydrate residues. Epididymal sperm forms are N-
CC glycosylated. Then undergoes significant glycosylation in the testis
CC and that the majority of these glycoconjugates are removed by the time
CC sperm reach the caput epididymis. {ECO:0000250|UniProtKB:Q9D5A0}.
CC -!- SIMILARITY: Belongs to the SPESP1 family. {ECO:0000305}.
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DR EMBL; AF275321; AAM69364.1; -; mRNA.
DR EMBL; AY358983; AAQ89342.1; -; mRNA.
DR EMBL; AC087639; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC017998; AAH17998.1; -; mRNA.
DR CCDS; CCDS10230.1; -.
DR RefSeq; NP_663633.1; NM_145658.3.
DR AlphaFoldDB; Q6UW49; -.
DR BioGRID; 128923; 2.
DR STRING; 9606.ENSP00000312284; -.
DR GlyGen; Q6UW49; 1 site.
DR iPTMnet; Q6UW49; -.
DR PhosphoSitePlus; Q6UW49; -.
DR BioMuta; SPESP1; -.
DR DMDM; 317373280; -.
DR MassIVE; Q6UW49; -.
DR PaxDb; Q6UW49; -.
DR PeptideAtlas; Q6UW49; -.
DR PRIDE; Q6UW49; -.
DR ProteomicsDB; 67445; -.
DR Antibodypedia; 51298; 81 antibodies from 16 providers.
DR DNASU; 246777; -.
DR Ensembl; ENST00000310673.4; ENSP00000312284.3; ENSG00000258484.4.
DR GeneID; 246777; -.
DR KEGG; hsa:246777; -.
DR MANE-Select; ENST00000310673.4; ENSP00000312284.3; NM_145658.4; NP_663633.1.
DR UCSC; uc002arn.2; human.
DR CTD; 246777; -.
DR DisGeNET; 246777; -.
DR GeneCards; SPESP1; -.
DR HGNC; HGNC:15570; SPESP1.
DR HPA; ENSG00000258484; Tissue enriched (testis).
DR MIM; 609399; gene.
DR neXtProt; NX_Q6UW49; -.
DR OpenTargets; ENSG00000258484; -.
DR PharmGKB; PA37980; -.
DR VEuPathDB; HostDB:ENSG00000258484; -.
DR eggNOG; ENOG502SG7W; Eukaryota.
DR GeneTree; ENSGT00390000005362; -.
DR HOGENOM; CLU_787463_0_0_1; -.
DR InParanoid; Q6UW49; -.
DR OMA; YKSQLLP; -.
DR PhylomeDB; Q6UW49; -.
DR TreeFam; TF337441; -.
DR PathwayCommons; Q6UW49; -.
DR BioGRID-ORCS; 246777; 7 hits in 1048 CRISPR screens.
DR ChiTaRS; SPESP1; human.
DR GenomeRNAi; 246777; -.
DR Pharos; Q6UW49; Tbio.
DR PRO; PR:Q6UW49; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q6UW49; protein.
DR Bgee; ENSG00000258484; Expressed in sperm and 129 other tissues.
DR Genevisible; Q6UW49; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0007340; P:acrosome reaction; IBA:GO_Central.
DR GO; GO:0009566; P:fertilization; ISS:UniProtKB.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; IBA:GO_Central.
DR GO; GO:0035036; P:sperm-egg recognition; ISS:UniProtKB.
DR InterPro; IPR026743; Equatorial_segment.
DR PANTHER; PTHR31667; PTHR31667; 1.
DR Pfam; PF15754; SPESP1; 1.
PE 1: Evidence at protein level;
KW Cytoplasmic vesicle; Developmental protein; Direct protein sequencing;
KW Glycoprotein; Reference proteome; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..350
FT /note="Sperm equatorial segment protein 1"
FT /id="PRO_0000042707"
FT CARBOHYD 128
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 133
FT /note="L -> F (in dbSNP:rs3743091)"
FT /id="VAR_031430"
FT VARIANT 134
FT /note="H -> Q (in dbSNP:rs16952684)"
FT /id="VAR_056994"
FT VARIANT 191
FT /note="G -> E (in dbSNP:rs3743093)"
FT /evidence="ECO:0000269|PubMed:12773409,
FT ECO:0000269|PubMed:12975309"
FT /id="VAR_023738"
FT CONFLICT 193
FT /note="S -> Y (in Ref. 1; AAM69364)"
FT /evidence="ECO:0000305"
FT CONFLICT 263
FT /note="R -> P (in Ref. 1; AAM69364)"
FT /evidence="ECO:0000305"
FT CONFLICT 297
FT /note="E -> V (in Ref. 1; AAM69364)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 350 AA; 38931 MW; 5AD0072D0BF79C4E CRC64;
MKPLVLLVAL LLWPSSVPAY PSITVTPDEE QNLNHYIQVL ENLVRSVPSG EPGREKKSNS
PKHVYSIASK GSKFKELVTH GDASTENDVL TNPISEETTT FPTGGFTPEI GKKKHTESTP
FWSIKPNNVS IVLHAEEPYI ENEEPEPEPE PAAKQTEAPR MLPVVTESST SPYVTSYKSP
VTTLDKSTGI GISTESEDVP QLSGETAIEK PEEFGKHPES WNNDDILKKI LDINSQVQQA
LLSDTSNPAY REDIEASKDH LKRSLALAAA AEHKLKTMYK SQLLPVGRTS NKIDDIETVI
NMLCNSRSKL YEYLDIKCVP PEMREKAATV FNTLKNMCRS RRVTALLKVY
