SMDC1_HUMAN
ID SMDC1_HUMAN Reviewed; 183 AA.
AC Q9NPB0; Q9H0D8;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=SAYSvFN domain-containing protein 1;
GN Name=SAYSD1; Synonyms=C6orf64;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [5]
RP SUBCELLULAR LOCATION.
RX PubMed=22361696; DOI=10.1016/j.jprot.2012.01.030;
RA Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M.,
RA Lundberg E.;
RT "Systematic validation of antibody binding and protein subcellular
RT localization using siRNA and confocal microscopy.";
RL J. Proteomics 75:2236-2251(2012).
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane
CC {ECO:0000269|PubMed:22361696}; Single-pass membrane protein
CC {ECO:0000269|PubMed:22361696}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NPB0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NPB0-2; Sequence=VSP_014597, VSP_014598;
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DR EMBL; AL136839; CAB66773.1; -; mRNA.
DR EMBL; AK001963; BAA92004.1; -; mRNA.
DR EMBL; AL035690; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022007; AAH22007.1; -; mRNA.
DR CCDS; CCDS4840.1; -. [Q9NPB0-1]
DR CCDS; CCDS78135.1; -. [Q9NPB0-2]
DR RefSeq; NP_001291722.1; NM_001304793.1. [Q9NPB0-2]
DR RefSeq; NP_060792.1; NM_018322.2. [Q9NPB0-1]
DR AlphaFoldDB; Q9NPB0; -.
DR BioGRID; 120891; 29.
DR IntAct; Q9NPB0; 5.
DR MINT; Q9NPB0; -.
DR STRING; 9606.ENSP00000229903; -.
DR iPTMnet; Q9NPB0; -.
DR PhosphoSitePlus; Q9NPB0; -.
DR BioMuta; SAYSD1; -.
DR DMDM; 68565322; -.
DR EPD; Q9NPB0; -.
DR MassIVE; Q9NPB0; -.
DR MaxQB; Q9NPB0; -.
DR PaxDb; Q9NPB0; -.
DR PeptideAtlas; Q9NPB0; -.
DR PRIDE; Q9NPB0; -.
DR ProteomicsDB; 81954; -. [Q9NPB0-1]
DR ProteomicsDB; 81955; -. [Q9NPB0-2]
DR Antibodypedia; 2340; 111 antibodies from 16 providers.
DR DNASU; 55776; -.
DR Ensembl; ENST00000229903.5; ENSP00000229903.4; ENSG00000112167.10. [Q9NPB0-1]
DR Ensembl; ENST00000373249.5; ENSP00000362346.1; ENSG00000112167.10. [Q9NPB0-2]
DR GeneID; 55776; -.
DR KEGG; hsa:55776; -.
DR MANE-Select; ENST00000229903.5; ENSP00000229903.4; NM_018322.3; NP_060792.1.
DR UCSC; uc003ook.2; human. [Q9NPB0-1]
DR CTD; 55776; -.
DR GeneCards; SAYSD1; -.
DR HGNC; HGNC:21025; SAYSD1.
DR HPA; ENSG00000112167; Tissue enhanced (testis).
DR neXtProt; NX_Q9NPB0; -.
DR OpenTargets; ENSG00000112167; -.
DR PharmGKB; PA128394689; -.
DR VEuPathDB; HostDB:ENSG00000112167; -.
DR eggNOG; KOG3249; Eukaryota.
DR GeneTree; ENSGT00390000004313; -.
DR HOGENOM; CLU_114258_0_1_1; -.
DR InParanoid; Q9NPB0; -.
DR OMA; QGEKSAY; -.
DR OrthoDB; 1476036at2759; -.
DR PhylomeDB; Q9NPB0; -.
DR TreeFam; TF106140; -.
DR PathwayCommons; Q9NPB0; -.
DR SignaLink; Q9NPB0; -.
DR BioGRID-ORCS; 55776; 7 hits in 1079 CRISPR screens.
DR ChiTaRS; SAYSD1; human.
DR GenomeRNAi; 55776; -.
DR Pharos; Q9NPB0; Tdark.
DR PRO; PR:Q9NPB0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9NPB0; protein.
DR Bgee; ENSG00000112167; Expressed in left testis and 166 other tissues.
DR Genevisible; Q9NPB0; HS.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR InterPro; IPR039159; SAYSD1.
DR InterPro; IPR019387; Uncharacterised_SAYSvFN.
DR PANTHER; PTHR13527; PTHR13527; 1.
DR Pfam; PF10260; SAYSvFN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..183
FT /note="SAYSvFN domain-containing protein 1"
FT /id="PRO_0000089517"
FT TRANSMEM 106..126
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 11..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..67
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_014597"
FT VAR_SEQ 68..69
FT /note="VQ -> ML (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_014598"
SQ SEQUENCE 183 AA; 20163 MW; 9C0B2CAB5F638A46 CRC64;
MEQRLAEFRA ARKRAGLAAQ PPAASQGAQT PGEKAEAAAT LKAAPGWLKR FLVWKPRPAS
ARAQPGLVQE AAQPQGSTSE TPWNTAIPLP SCWDQSFLTN ITFLKVLLWL VLLGLFVELE
FGLAYFVLSL FYWMYVGTRG PEEKKEGEKS AYSVFNPGCE AIQGTLTAEQ LERELQLRPL
AGR
