SUSD1_HUMAN
ID SUSD1_HUMAN Reviewed; 747 AA.
AC Q6UWL2; A1A4C5; A8KA03; Q5T8V6; Q5T8V7; Q6P9G7; Q8WU83; Q96DM9; Q9H6V2;
AC Q9NTA7;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Sushi domain-containing protein 1;
DE Flags: Precursor;
GN Name=SUSD1; ORFNames=UNQ2438/PRO4999;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 308-747 (ISOFORM 1).
RC TISSUE=Trachea;
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=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 [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 403-747 (ISOFORM 1), AND VARIANT GLN-524.
RC TISSUE=Placenta;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 178-747 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-253.
RC TISSUE=Platelet;
RX PubMed=16263699; DOI=10.1074/mcp.m500324-mcp200;
RA Lewandrowski U., Moebius J., Walter U., Sickmann A.;
RT "Elucidation of N-glycosylation sites on human platelet proteins: a
RT glycoproteomic approach.";
RL Mol. Cell. Proteomics 5:226-233(2006).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6UWL2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWL2-2; Sequence=VSP_020832;
CC Name=3;
CC IsoId=Q6UWL2-3; Sequence=VSP_026677;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15149.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB71259.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY358746; AAQ89106.1; -; mRNA.
DR EMBL; AK025486; BAB15149.1; ALT_INIT; mRNA.
DR EMBL; AK056704; BAB71259.1; ALT_INIT; mRNA.
DR EMBL; AK292868; BAF85557.1; -; mRNA.
DR EMBL; AL138756; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL158824; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW59093.1; -; Genomic_DNA.
DR EMBL; BC021125; AAH21125.1; -; mRNA.
DR EMBL; BC052314; AAH52314.1; -; mRNA.
DR EMBL; BC060770; AAH60770.2; -; mRNA.
DR EMBL; AL137432; CAB70735.1; -; mRNA.
DR CCDS; CCDS65106.1; -. [Q6UWL2-2]
DR CCDS; CCDS6783.1; -. [Q6UWL2-1]
DR PIR; T46261; T46261.
DR RefSeq; NP_001269569.1; NM_001282640.1. [Q6UWL2-2]
DR RefSeq; NP_001269572.1; NM_001282643.1.
DR RefSeq; NP_071931.2; NM_022486.4. [Q6UWL2-1]
DR AlphaFoldDB; Q6UWL2; -.
DR SMR; Q6UWL2; -.
DR BioGRID; 122169; 37.
DR IntAct; Q6UWL2; 13.
DR MINT; Q6UWL2; -.
DR STRING; 9606.ENSP00000363382; -.
DR GlyGen; Q6UWL2; 8 sites.
DR iPTMnet; Q6UWL2; -.
DR PhosphoSitePlus; Q6UWL2; -.
DR BioMuta; SUSD1; -.
DR DMDM; 74749394; -.
DR MassIVE; Q6UWL2; -.
DR PaxDb; Q6UWL2; -.
DR PeptideAtlas; Q6UWL2; -.
DR PRIDE; Q6UWL2; -.
DR ProteomicsDB; 67490; -. [Q6UWL2-1]
DR ProteomicsDB; 67491; -. [Q6UWL2-2]
DR ProteomicsDB; 67492; -. [Q6UWL2-3]
DR Antibodypedia; 62398; 20 antibodies from 10 providers.
DR DNASU; 64420; -.
DR Ensembl; ENST00000374264.6; ENSP00000363382.2; ENSG00000106868.17. [Q6UWL2-2]
DR Ensembl; ENST00000374270.8; ENSP00000363388.4; ENSG00000106868.17. [Q6UWL2-1]
DR GeneID; 64420; -.
DR KEGG; hsa:64420; -.
DR MANE-Select; ENST00000374270.8; ENSP00000363388.4; NM_022486.5; NP_071931.2.
DR UCSC; uc004bfu.5; human. [Q6UWL2-1]
DR CTD; 64420; -.
DR DisGeNET; 64420; -.
DR GeneCards; SUSD1; -.
DR HGNC; HGNC:25413; SUSD1.
DR HPA; ENSG00000106868; Low tissue specificity.
DR neXtProt; NX_Q6UWL2; -.
DR OpenTargets; ENSG00000106868; -.
DR PharmGKB; PA134935587; -.
DR VEuPathDB; HostDB:ENSG00000106868; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00390000013892; -.
DR InParanoid; Q6UWL2; -.
DR OMA; CEESGLC; -.
DR OrthoDB; 1174178at2759; -.
DR PhylomeDB; Q6UWL2; -.
DR TreeFam; TF335742; -.
DR PathwayCommons; Q6UWL2; -.
DR SignaLink; Q6UWL2; -.
DR BioGRID-ORCS; 64420; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; SUSD1; human.
DR GenomeRNAi; 64420; -.
DR Pharos; Q6UWL2; Tdark.
DR PRO; PR:Q6UWL2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6UWL2; protein.
DR Bgee; ENSG00000106868; Expressed in monocyte and 136 other tissues.
DR ExpressionAtlas; Q6UWL2; baseline and differential.
DR Genevisible; Q6UWL2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR CDD; cd00033; CCP; 2.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR035976; Sushi/SCR/CCP_sf.
DR InterPro; IPR000436; Sushi_SCR_CCP_dom.
DR Pfam; PF07645; EGF_CA; 2.
DR Pfam; PF00084; Sushi; 2.
DR SMART; SM00032; CCP; 2.
DR SMART; SM00181; EGF; 3.
DR SMART; SM00179; EGF_CA; 2.
DR SUPFAM; SSF57184; SSF57184; 1.
DR SUPFAM; SSF57535; SSF57535; 2.
DR PROSITE; PS00010; ASX_HYDROXYL; 2.
DR PROSITE; PS01186; EGF_2; 1.
DR PROSITE; PS50026; EGF_3; 3.
DR PROSITE; PS01187; EGF_CA; 2.
DR PROSITE; PS50923; SUSHI; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Disulfide bond; EGF-like domain;
KW Glycoprotein; Membrane; Reference proteome; Repeat; Signal; Sushi;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..747
FT /note="Sushi domain-containing protein 1"
FT /id="PRO_0000251972"
FT TOPO_DOM 30..721
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 722..742
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 743..747
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 35..72
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 73..112
FT /note="EGF-like 2; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 125..162
FT /note="EGF-like 3; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 177..236
FT /note="Sushi 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00302"
FT DOMAIN 237..296
FT /note="Sushi 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00302"
FT CARBOHYD 87
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 112
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 193
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 253
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:16263699"
FT CARBOHYD 348
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 367
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 563
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 39..48
FT /evidence="ECO:0000250"
FT DISULFID 42..57
FT /evidence="ECO:0000250"
FT DISULFID 59..71
FT /evidence="ECO:0000250"
FT DISULFID 77..91
FT /evidence="ECO:0000250"
FT DISULFID 85..100
FT /evidence="ECO:0000250"
FT DISULFID 129..141
FT /evidence="ECO:0000250"
FT DISULFID 135..150
FT /evidence="ECO:0000250"
FT DISULFID 179..221
FT /evidence="ECO:0000250"
FT DISULFID 206..234
FT /evidence="ECO:0000250"
FT DISULFID 239..281
FT /evidence="ECO:0000250"
FT DISULFID 266..294
FT /evidence="ECO:0000250"
FT VAR_SEQ 704..721
FT /note="VRRHSCAVWAQVKDSSLM -> IRHSCCCRWRVLDWVPWL (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026677"
FT VAR_SEQ 717..747
FT /note="DSSLMLLQMAGVGLGSLAVVIILTFLSFSAV -> EIPCNCNFLRLHIHRAN
FT SGDTQIRHSCCCRWRVLDWVPWLL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020832"
FT VARIANT 201
FT /note="Q -> E (in dbSNP:rs17829458)"
FT /id="VAR_051390"
FT VARIANT 524
FT /note="H -> Q (in dbSNP:rs17855713)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027743"
SQ SEQUENCE 747 AA; 82710 MW; F642FC18588CD974 CRC64;
MGRGPWDAGP SRRLLPLLLL LGLARGAAGA PGPDGLDVCA TCHEHATCQQ REGKKICICN
YGFVGNGRTQ CVDKNECQFG ATLVCGNHTS CHNTPGGFYC ICLEGYRATN NNKTFIPNDG
TFCTDIDECE VSGLCRHGGR CVNTHGSFEC YCMDGYLPRN GPEPFHPTTD ATSCTEIDCG
TPPEVPDGYI IGNYTSSLGS QVRYACREGF FSVPEDTVSS CTGLGTWESP KLHCQEINCG
NPPEMRHAIL VGNHSSRLGG VARYVCQEGF ESPGGKITSV CTEKGTWRES TLTCTEILTK
INDVSLFNDT CVRWQINSRR INPKISYVIS IKGQRLDPME SVREETVNLT TDSRTPEVCL
ALYPGTNYTV NISTAPPRRS MPAVIGFQTA EVDLLEDDGS FNISIFNETC LKLNRRSRKV
GSEHMYQFTV LGQRWYLANF SHATSFNFTT REQVPVVCLD LYPTTDYTVN VTLLRSPKRH
SVQITIATPP AVKQTISNIS GFNETCLRWR SIKTADMEEM YLFHIWGQRW YQKEFAQEMT
FNISSSSRDP EVCLDLRPGT NYNVSLRALS SELPVVISLT TQITEPPLPE VEFFTVHRGP
LPRLRLRKAK EKNGPISSYQ VLVLPLALQS TFSCDSEGAS SFFSNASDAD GYVAAELLAK
DVPDDAMEIP IGDRLYYGEY YNAPLKRGSD YCIILRITSE WNKVRRHSCA VWAQVKDSSL
MLLQMAGVGL GSLAVVIILT FLSFSAV
