EQTN_HUMAN
ID EQTN_HUMAN Reviewed; 294 AA.
AC Q9NQ60; B2RPB3; B7ZMK1; Q5TCU1; Q96L22;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Equatorin;
DE AltName: Full=Acrosome formation-associated factor;
DE Flags: Precursor;
GN Name=EQTN; Synonyms=AFAF, C9orf11;
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 1), TISSUE SPECIFICITY, ALTERNATIVE
RP SPLICING, AND VARIANT LYS-274.
RX PubMed=11118625; DOI=10.1016/s0167-4781(00)00272-4;
RA Ruiz A., Pujana M.A., Estivill X.;
RT "Isolation and characterisation of a novel human gene (C9orf11) on
RT chromosome 9p21, a region frequently deleted in human cancer.";
RL Biochim. Biophys. Acta 1517:128-134(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
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 -!- FUNCTION: Acrosomal membrane-anchored protein involved in the process
CC of fertilization and in acrosome biogenesis. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with SNAP25. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000250}; Single-pass type I membrane protein
CC {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome inner
CC membrane {ECO:0000250}; Single-pass type I membrane protein
CC {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome outer
CC membrane {ECO:0000250}; Single-pass type I membrane protein
CC {ECO:0000250}. Note=In the anterior acrosome region, enriched on the
CC inner acrosomal membrane but minimal on the outer acrosomal membrane;
CC in contrast in the posterior acrosome region enriched on both the inner
CC and outer acrosomal membranes. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NQ60-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NQ60-2; Sequence=VSP_025109, VSP_025110;
CC Name=3;
CC IsoId=Q9NQ60-3; Sequence=VSP_042157;
CC -!- TISSUE SPECIFICITY: Isoform 1 is highly expressed in testis. Isoform 2
CC is expressed at low levels in skin and blood.
CC {ECO:0000269|PubMed:11118625}.
CC -!- PTM: Highly N- and O-glycosylated; contains sialic acid. {ECO:0000250}.
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DR EMBL; AJ278482; CAC00687.1; -; mRNA.
DR EMBL; AL133411; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58566.1; -; Genomic_DNA.
DR EMBL; BC014307; AAH14307.1; -; mRNA.
DR EMBL; BC137351; AAI37352.1; -; mRNA.
DR EMBL; BC137352; AAI37353.1; -; mRNA.
DR EMBL; BC144602; AAI44603.1; -; mRNA.
DR CCDS; CCDS35001.1; -. [Q9NQ60-1]
DR CCDS; CCDS55300.1; -. [Q9NQ60-3]
DR RefSeq; NP_001155057.1; NM_001161585.1. [Q9NQ60-3]
DR RefSeq; NP_065692.2; NM_020641.2. [Q9NQ60-1]
DR AlphaFoldDB; Q9NQ60; -.
DR STRING; 9606.ENSP00000369371; -.
DR GlyGen; Q9NQ60; 3 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NQ60; -.
DR PhosphoSitePlus; Q9NQ60; -.
DR BioMuta; EQTN; -.
DR DMDM; 147742918; -.
DR MassIVE; Q9NQ60; -.
DR PaxDb; Q9NQ60; -.
DR PeptideAtlas; Q9NQ60; -.
DR PRIDE; Q9NQ60; -.
DR ProteomicsDB; 82084; -. [Q9NQ60-1]
DR ProteomicsDB; 82085; -. [Q9NQ60-2]
DR ProteomicsDB; 82086; -. [Q9NQ60-3]
DR Antibodypedia; 2383; 23 antibodies from 12 providers.
DR DNASU; 54586; -.
DR Ensembl; ENST00000380031.2; ENSP00000369370.1; ENSG00000120160.11. [Q9NQ60-2]
DR Ensembl; ENST00000380032.8; ENSP00000369371.3; ENSG00000120160.11. [Q9NQ60-1]
DR Ensembl; ENST00000537675.5; ENSP00000441630.1; ENSG00000120160.11. [Q9NQ60-3]
DR GeneID; 54586; -.
DR KEGG; hsa:54586; -.
DR MANE-Select; ENST00000380032.8; ENSP00000369371.3; NM_020641.3; NP_065692.2.
DR UCSC; uc003zql.4; human. [Q9NQ60-1]
DR CTD; 54586; -.
DR DisGeNET; 54586; -.
DR GeneCards; EQTN; -.
DR HGNC; HGNC:1359; EQTN.
DR HPA; ENSG00000120160; Tissue enriched (testis).
DR MIM; 617653; gene.
DR neXtProt; NX_Q9NQ60; -.
DR OpenTargets; ENSG00000120160; -.
DR PharmGKB; PA25969; -.
DR VEuPathDB; HostDB:ENSG00000120160; -.
DR eggNOG; KOG2248; Eukaryota.
DR GeneTree; ENSGT00390000010786; -.
DR HOGENOM; CLU_082439_0_0_1; -.
DR InParanoid; Q9NQ60; -.
DR OMA; GPNEPAF; -.
DR OrthoDB; 1090314at2759; -.
DR PhylomeDB; Q9NQ60; -.
DR TreeFam; TF337449; -.
DR PathwayCommons; Q9NQ60; -.
DR BioGRID-ORCS; 54586; 10 hits in 1070 CRISPR screens.
DR ChiTaRS; EQTN; human.
DR GenomeRNAi; 54586; -.
DR Pharos; Q9NQ60; Tdark.
DR PRO; PR:Q9NQ60; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9NQ60; protein.
DR Bgee; ENSG00000120160; Expressed in sperm and 89 other tissues.
DR Genevisible; Q9NQ60; HS.
DR GO; GO:0002079; C:inner acrosomal membrane; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0002081; C:outer acrosomal membrane; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0060478; P:acrosomal vesicle exocytosis; IBA:GO_Central.
DR GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; IBA:GO_Central.
DR InterPro; IPR029282; Eqtn/Afaf.
DR PANTHER; PTHR36874; PTHR36874; 1.
DR Pfam; PF15339; Afaf; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..14
FT /evidence="ECO:0000255"
FT CHAIN 15..294
FT /note="Equatorin"
FT /id="PRO_0000286593"
FT TOPO_DOM 15..181
FT /note="Vesicular"
FT /evidence="ECO:0000255"
FT TRANSMEM 182..202
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 203..294
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 107..126
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 76
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 143
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 97..126
FT /note="DKTVNATTYEKSTIEEETTTSEPSHKNIQR -> G (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042157"
FT VAR_SEQ 126..127
FT /note="RS -> SI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025109"
FT VAR_SEQ 128..294
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025110"
FT VARIANT 101
FT /note="N -> D (in dbSNP:rs12337286)"
FT /id="VAR_032136"
FT VARIANT 110
FT /note="I -> T (in dbSNP:rs12341576)"
FT /id="VAR_056727"
FT VARIANT 274
FT /note="T -> K (in dbSNP:rs41305329)"
FT /evidence="ECO:0000269|PubMed:11118625"
FT /id="VAR_032137"
FT CONFLICT 282
FT /note="D -> N (in Ref. 1; CAC00687)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 294 AA; 32840 MW; 0EEB8BD5F22F4063 CRC64;
MNFILFIFIP GVFSLKSSTL KPTIEALPNV LPLNEDVNKQ EEKNEDHTPN YAPANEKNGN
YYKDIKQYVF TTQNPNGTES EISVRATTDL NFALKNDKTV NATTYEKSTI EEETTTSEPS
HKNIQRSTPN VPAFWTMLAK AINGTAVVMD DKDQLFHPIP ESDVNATQGE NQPDLEDLKI
KIMLGISLMT LLLFVVLLAF CSATLYKLRH LSYKSCESQY SVNPELATMS YFHPSEGVSD
TSFSKSAESS TFLGTTSSDM RRSGTRTSES KIMTDIISIG SDNEMHENDE SVTR
