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Protein

CUB and sushi domain-containing protein 3

Gene

CSMD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
CUB and sushi domain-containing protein 3
Alternative name(s):
CUB and sushi multiple domains protein 3
Gene namesi
Name:CSMD3
Synonyms:KIAA1894
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:19291. CSMD3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4242CytoplasmicSequence analysisAdd
BLAST
Transmembranei43 – 6321HelicalSequence analysisAdd
BLAST
Topological domaini64 – 36303567ExtracellularSequence analysisAdd
BLAST
Transmembranei3631 – 365121HelicalSequence analysisAdd
BLAST
Topological domaini3652 – 370756CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134926063.

Polymorphism and mutation databases

BioMutaiCSMD3.
DMDMi257051058.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 37073707CUB and sushi domain-containing protein 3PRO_0000021027Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi65 ↔ 91By similarity
Glycosylationi73 – 731N-linked (GlcNAc...)Sequence analysis
Glycosylationi90 – 901N-linked (GlcNAc...)Sequence analysis
Disulfide bondi178 ↔ 218By similarity
Disulfide bondi204 ↔ 235By similarity
Disulfide bondi241 ↔ 267By similarity
Glycosylationi361 – 3611N-linked (GlcNAc...)Sequence analysis
Glycosylationi409 – 4091N-linked (GlcNAc...)Sequence analysis
Disulfide bondi486 ↔ 526By similarity
Disulfide bondi512 ↔ 543By similarity
Disulfide bondi548 ↔ 574By similarity
Disulfide bondi664 ↔ 704By similarity
Disulfide bondi690 ↔ 717By similarity
Disulfide bondi721 ↔ 747By similarity
Glycosylationi724 – 7241N-linked (GlcNAc...)Sequence analysis
Glycosylationi823 – 8231N-linked (GlcNAc...)Sequence analysis
Disulfide bondi834 ↔ 875By similarity
Disulfide bondi860 ↔ 891By similarity
Disulfide bondi895 ↔ 921By similarity
Glycosylationi966 – 9661N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1010 ↔ 1050By similarity
Disulfide bondi1036 ↔ 1063By similarity
Disulfide bondi1067 ↔ 1093By similarity
Glycosylationi1092 – 10921N-linked (GlcNAc...)Sequence analysis
Glycosylationi1126 – 11261N-linked (GlcNAc...)Sequence analysis
Glycosylationi1171 – 11711N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1182 ↔ 1222By similarity
Disulfide bondi1208 ↔ 1237By similarity
Disulfide bondi1241 ↔ 1267By similarity
Glycosylationi1280 – 12801N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1354 ↔ 1395By similarity
Disulfide bondi1381 ↔ 1410By similarity
Disulfide bondi1414 ↔ 1441By similarity
Disulfide bondi1528 ↔ 1568By similarity
Glycosylationi1536 – 15361N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1554 ↔ 1584By similarity
Disulfide bondi1588 ↔ 1614By similarity
Glycosylationi1591 – 15911N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1701 ↔ 1741By similarity
Glycosylationi1709 – 17091N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1727 ↔ 1758By similarity
Disulfide bondi1762 ↔ 1788By similarity
Glycosylationi1781 – 17811N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1878 ↔ 1918By similarity
Disulfide bondi1904 ↔ 1935By similarity
Glycosylationi1929 – 19291N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1939 ↔ 1965By similarity
Glycosylationi2019 – 20191N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2052 ↔ 2092By similarity
Disulfide bondi2078 ↔ 2107By similarity
Disulfide bondi2111 ↔ 2137By similarity
Glycosylationi2155 – 21551N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2224 ↔ 2264By similarity
Disulfide bondi2250 ↔ 2279By similarity
Disulfide bondi2283 ↔ 2309By similarity
Glycosylationi2286 – 22861N-linked (GlcNAc...)Sequence analysis
Glycosylationi2291 – 22911N-linked (GlcNAc...)Sequence analysis
Glycosylationi2324 – 23241N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2395 ↔ 2437By similarity
Disulfide bondi2423 ↔ 2452By similarity
Disulfide bondi2456 ↔ 2484By similarity
Glycosylationi2495 – 24951N-linked (GlcNAc...)Sequence analysis
Glycosylationi2537 – 25371N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2569 ↔ 2610By similarity
Disulfide bondi2596 ↔ 2627By similarity
Disulfide bondi2632 ↔ 2674By similarity
Disulfide bondi2658 ↔ 2689By similarity
Disulfide bondi2694 ↔ 2739By similarity
Glycosylationi2711 – 27111N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2725 ↔ 2754By similarity
Glycosylationi2742 – 27421N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2759 ↔ 2799By similarity
Disulfide bondi2785 ↔ 2812By similarity
Disulfide bondi2817 ↔ 2857By similarity
Disulfide bondi2843 ↔ 2870By similarity
Glycosylationi2862 – 28621N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2875 ↔ 2915By similarity
Disulfide bondi2901 ↔ 2928By similarity
Glycosylationi2932 – 29321N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2933 ↔ 2977By similarity
Glycosylationi2952 – 29521N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2963 ↔ 2990By similarity
Disulfide bondi2995 ↔ 3035By similarity
Disulfide bondi3021 ↔ 3048By similarity
Disulfide bondi3056 ↔ 3096By similarity
Disulfide bondi3082 ↔ 3109By similarity
Glycosylationi3099 – 30991N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3114 ↔ 3155By similarity
Disulfide bondi3141 ↔ 3168By similarity
Glycosylationi3158 – 31581N-linked (GlcNAc...)Sequence analysis
Glycosylationi3167 – 31671N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3173 ↔ 3215By similarity
Glycosylationi3194 – 31941N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3199 ↔ 3228By similarity
Glycosylationi3208 – 32081N-linked (GlcNAc...)Sequence analysis
Glycosylationi3218 – 32181N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3233 ↔ 3273By similarity
Disulfide bondi3259 ↔ 3286By similarity
Glycosylationi3276 – 32761N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3291 ↔ 3331By similarity
Disulfide bondi3317 ↔ 3344By similarity
Disulfide bondi3352 ↔ 3393By similarity
Glycosylationi3364 – 33641N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3379 ↔ 3406By similarity
Disulfide bondi3411 ↔ 3453By similarity
Disulfide bondi3438 ↔ 3466By similarity
Glycosylationi3522 – 35221N-linked (GlcNAc...)Sequence analysis
Glycosylationi3529 – 35291N-linked (GlcNAc...)Sequence analysis
Glycosylationi3612 – 36121N-linked (GlcNAc...)Sequence analysis
Glycosylationi3618 – 36181N-linked (GlcNAc...)Sequence analysis
Glycosylationi3627 – 36271N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ7Z407.
MaxQBiQ7Z407.
PaxDbiQ7Z407.
PRIDEiQ7Z407.

PTM databases

PhosphoSiteiQ7Z407.

Expressioni

Tissue specificityi

Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, thalamus, spinal cord, hippocampus and fetal brain. Also expressed in testis.2 Publications

Gene expression databases

BgeeiQ7Z407.
CleanExiHS_CSMD3.
ExpressionAtlasiQ7Z407. baseline and differential.
GenevisibleiQ7Z407. HS.

Organism-specific databases

HPAiHPA029007.

Interactioni

Protein-protein interaction databases

BioGridi125350. 1 interaction.
STRINGi9606.ENSP00000297405.

Structurei

3D structure databases

ProteinModelPortaliQ7Z407.
SMRiQ7Z407. Positions 65-376, 486-3468.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 173109CUB 1PROSITE-ProRule annotationAdd
BLAST
Domaini176 – 23762Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini241 – 345105CUB 2PROSITE-ProRule annotationAdd
BLAST
Domaini484 – 54562Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini548 – 659112CUB 3PROSITE-ProRule annotationAdd
BLAST
Domaini662 – 71958Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini721 – 829109CUB 4PROSITE-ProRule annotationAdd
BLAST
Domaini832 – 89362Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini895 – 1003109CUB 5PROSITE-ProRule annotationAdd
BLAST
Domaini1008 – 106558Sushi 5PROSITE-ProRule annotationAdd
BLAST
Domaini1067 – 1177111CUB 6PROSITE-ProRule annotationAdd
BLAST
Domaini1180 – 123960Sushi 6PROSITE-ProRule annotationAdd
BLAST
Domaini1241 – 1349109CUB 7PROSITE-ProRule annotationAdd
BLAST
Domaini1352 – 141261Sushi 7PROSITE-ProRule annotationAdd
BLAST
Domaini1414 – 1523110CUB 8PROSITE-ProRule annotationAdd
BLAST
Domaini1526 – 158661Sushi 8PROSITE-ProRule annotationAdd
BLAST
Domaini1588 – 1696109CUB 9PROSITE-ProRule annotationAdd
BLAST
Domaini1699 – 176062Sushi 9PROSITE-ProRule annotationAdd
BLAST
Domaini1762 – 1870109CUB 10PROSITE-ProRule annotationAdd
BLAST
Domaini1876 – 193762Sushi 10PROSITE-ProRule annotationAdd
BLAST
Domaini1939 – 2047109CUB 11PROSITE-ProRule annotationAdd
BLAST
Domaini2050 – 210960Sushi 11PROSITE-ProRule annotationAdd
BLAST
Domaini2111 – 2219109CUB 12PROSITE-ProRule annotationAdd
BLAST
Domaini2222 – 228160Sushi 12PROSITE-ProRule annotationAdd
BLAST
Domaini2283 – 2394112CUB 13PROSITE-ProRule annotationAdd
BLAST
Domaini2393 – 245462Sushi 13PROSITE-ProRule annotationAdd
BLAST
Domaini2456 – 2567112CUB 14PROSITE-ProRule annotationAdd
BLAST
Domaini2567 – 262963Sushi 14PROSITE-ProRule annotationAdd
BLAST
Domaini2630 – 269162Sushi 15PROSITE-ProRule annotationAdd
BLAST
Domaini2692 – 275665Sushi 16PROSITE-ProRule annotationAdd
BLAST
Domaini2757 – 281458Sushi 17PROSITE-ProRule annotationAdd
BLAST
Domaini2815 – 287258Sushi 18PROSITE-ProRule annotationAdd
BLAST
Domaini2873 – 293058Sushi 19PROSITE-ProRule annotationAdd
BLAST
Domaini2931 – 299262Sushi 20PROSITE-ProRule annotationAdd
BLAST
Domaini2993 – 305058Sushi 21PROSITE-ProRule annotationAdd
BLAST
Domaini3054 – 311158Sushi 22PROSITE-ProRule annotationAdd
BLAST
Domaini3112 – 317059Sushi 23PROSITE-ProRule annotationAdd
BLAST
Domaini3171 – 323060Sushi 24PROSITE-ProRule annotationAdd
BLAST
Domaini3231 – 328858Sushi 25PROSITE-ProRule annotationAdd
BLAST
Domaini3289 – 334658Sushi 26PROSITE-ProRule annotationAdd
BLAST
Domaini3350 – 340859Sushi 27PROSITE-ProRule annotationAdd
BLAST
Domaini3409 – 346860Sushi 28PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the CSMD family.Curated
Contains 14 CUB domains.PROSITE-ProRule annotation
Contains 28 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ7Z407.
KOiK17495.
OMAiILRFECQ.
OrthoDBiEOG7FNC6J.
PhylomeDBiQ7Z407.
TreeFamiTF316872.

Family and domain databases

Gene3Di2.60.120.290. 14 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 14 hits.
PF00084. Sushi. 28 hits.
[Graphical view]
SMARTiSM00032. CCP. 28 hits.
SM00042. CUB. 14 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 14 hits.
SSF57535. SSF57535. 28 hits.
PROSITEiPS01180. CUB. 14 hits.
PS50923. SUSHI. 28 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z407-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV
60 70 80 90 100
FLLTVSCVKG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
110 120 130 140 150
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV
160 170 180 190 200
FSLRLTSDFA VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI
210 220 230 240 250
RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA CGGTMRGSSG
260 270 280 290 300
IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
310 320 330 340 350
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH
360 370 380 390 400
TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
410 420 430 440 450
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK
460 470 480 490 500
AIDFKSRGFK LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS
510 520 530 540 550
DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR PVCKVKTCGS
560 570 580 590 600
NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
610 620 630 640 650
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV
660 670 680 690 700
GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
710 720 730 740 750
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT
760 770 780 790 800
IISDPGSRIH LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL
810 820 830 840 850
TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP INARRFGDNF
860 870 880 890 900
QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
910 920 930 940 950
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE
960 970 980 990 1000
VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
1010 1020 1030 1040 1050
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC
1060 1070 1080 1090 1100
EKNHWWSHPL PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT
1110 1120 1130 1140 1150
HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD LPPTINAGLY
1160 1170 1180 1190 1200
GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
1210 1220 1230 1240 1250
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG
1260 1270 1280 1290 1300
ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
1310 1320 1330 1340 1350
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE
1360 1370 1380 1390 1400
LSHCEDPGIP QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER
1410 1420 1430 1440 1450
RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR CMWMIEVDPG
1460 1470 1480 1490 1500
NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
1510 1520 1530 1540 1550
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV
1560 1570 1580 1590 1600
VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
1610 1620 1630 1640 1650
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS
1660 1670 1680 1690 1700
NSPLIGSFQD SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES
1710 1720 1730 1740 1750
CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT CIMGDDGRPG
1760 1770 1780 1790 1800
WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFVV
1810 1820 1830 1840 1850
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI
1860 1870 1880 1890 1900
RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
1910 1920 1930 1940 1950
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI
1960 1970 1980 1990 2000
LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD
2010 2020 2030 2040 2050
NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
2060 2070 2080 2090 2100
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW
2110 2120 2130 2140 2150
NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH
2160 2170 2180 2190 2200
LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
2210 2220 2230 2240 2250
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC
2260 2270 2280 2290 2300
FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP
2310 2320 2330 2340 2350
DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
2360 2370 2380 2390 2400
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP
2410 2420 2430 2440 2450
VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP
2460 2470 2480 2490 2500
VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
2510 2520 2530 2540 2550
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS
2560 2570 2580 2590 2600
ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF
2610 2620 2630 2640 2650
RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
2660 2670 2680 2690 2700
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF
2710 2720 2730 2740 2750
ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE
2760 2770 2780 2790 2800
RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
2810 2820 2830 2840 2850
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI
2860 2870 2880 2890 2900
GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS
2910 2920 2930 2940 2950
CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
2960 2970 2980 2990 3000
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV
3010 3020 3030 3040 3050
PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG
3060 3070 3080 3090 3100
DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
3110 3120 3130 3140 3150
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP
3160 3170 3180 3190 3200
SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ
3210 3220 3230 3240 3250
PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
3260 3270 3280 3290 3300
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG
3310 3320 3330 3340 3350
KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT
3360 3370 3380 3390 3400
SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
3410 3420 3430 3440 3450
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH
3460 3470 3480 3490 3500
RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI
3510 3520 3530 3540 3550
WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
3560 3570 3580 3590 3600
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD
3610 3620 3630 3640 3650
YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY
3660 3670 3680 3690 3700
LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL

NTVCTMV
Length:3,707
Mass (Da):406,000
Last modified:September 1, 2009 - v3
Checksum:i3194CBF8FE56ED76
GO
Isoform 2 (identifier: Q7Z407-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MKGIRKGESR...VFLLTVSCVK → MWSWFLCWKPVQLDRQTAS

Show »
Length:3,667
Mass (Da):401,589
Checksum:iD19690D7B345E3E5
GO
Isoform 3 (identifier: Q7Z407-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-447: Missing.
     2692-2756: Missing.

Show »
Length:3,538
Mass (Da):387,329
Checksum:i80C4FC2F5C6A7CA3
GO
Isoform 4 (identifier: Q7Z407-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1799-1868: Missing.

Note: No experimental confirmation available.
Show »
Length:3,637
Mass (Da):398,452
Checksum:i9247DF4CE5A4FB19
GO
Isoform 5 (identifier: Q7Z407-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2629-2675: AISCGIPKAP...SKELTTAVCQ → GEVYYAKMNK...IVNSFHKNKA
     2676-3707: Missing.

Note: No experimental confirmation available.
Show »
Length:2,675
Mass (Da):294,834
Checksum:i44F9DC603F514419
GO

Sequence cautioni

The sequence AAO34702.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti510 – 5101F → L in AAO34702 (PubMed:12906867).Curated
Sequence conflicti726 – 7261T → A in AAO34702 (PubMed:12906867).Curated
Sequence conflicti977 – 9771S → I in BAB67787 (PubMed:11572484).Curated
Sequence conflicti2104 – 21041I → T in AAO34702 (PubMed:12906867).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti219 – 2191I → M.1 Publication
Corresponds to variant rs2219898 [ dbSNP | Ensembl ].
VAR_017404
Natural varianti322 – 3221W → G in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035688
Natural varianti2020 – 20201S → C Found in a renal cell carcinoma case; somatic mutation. 1 Publication
VAR_064703
Natural varianti3000 – 30001V → L.
Corresponds to variant rs2193430 [ dbSNP | Ensembl ].
VAR_017405
Natural varianti3079 – 30791R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035689
Natural varianti3359 – 33591R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035690
Natural varianti3621 – 36211N → H.1 Publication
Corresponds to variant rs1592624 [ dbSNP | Ensembl ].
VAR_017406

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5959MKGIR…VSCVK → MWSWFLCWKPVQLDRQTAS in isoform 2. 1 PublicationVSP_009047Add
BLAST
Alternative sequencei344 – 447104Missing in isoform 3. 1 PublicationVSP_009048Add
BLAST
Alternative sequencei1799 – 186870Missing in isoform 4. 1 PublicationVSP_009050Add
BLAST
Alternative sequencei2629 – 267547AISCG…TAVCQ → GEVYYAKMNKNMNVRLAPFN VFIWITHFSENGNIRKHIVN SFHKNKA in isoform 5. 1 PublicationVSP_009051Add
BLAST
Alternative sequencei2676 – 37071032Missing in isoform 5. 1 PublicationVSP_009052Add
BLAST
Alternative sequencei2692 – 275665Missing in isoform 3. 1 PublicationVSP_009049Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY210419 mRNA. Translation: AAO34702.1. Different initiation.
AB114604 mRNA. Translation: BAC82443.1.
AB114605 mRNA. Translation: BAC82444.1.
AB067481 mRNA. Translation: BAB67787.2.
AK126252 mRNA. No translation available.
CCDSiCCDS6315.1. [Q7Z407-1]
CCDS6316.2. [Q7Z407-3]
CCDS6317.1. [Q7Z407-2]
RefSeqiNP_443132.3. NM_052900.2. [Q7Z407-3]
NP_937756.1. NM_198123.1. [Q7Z407-1]
NP_937757.1. NM_198124.1. [Q7Z407-2]
UniGeneiHs.91381.

Genome annotation databases

EnsembliENST00000297405; ENSP00000297405; ENSG00000164796. [Q7Z407-1]
ENST00000343508; ENSP00000345799; ENSG00000164796. [Q7Z407-2]
ENST00000455883; ENSP00000412263; ENSG00000164796. [Q7Z407-3]
GeneIDi114788.
KEGGihsa:114788.
UCSCiuc003ynt.4. human. [Q7Z407-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY210419 mRNA. Translation: AAO34702.1. Different initiation.
AB114604 mRNA. Translation: BAC82443.1.
AB114605 mRNA. Translation: BAC82444.1.
AB067481 mRNA. Translation: BAB67787.2.
AK126252 mRNA. No translation available.
CCDSiCCDS6315.1. [Q7Z407-1]
CCDS6316.2. [Q7Z407-3]
CCDS6317.1. [Q7Z407-2]
RefSeqiNP_443132.3. NM_052900.2. [Q7Z407-3]
NP_937756.1. NM_198123.1. [Q7Z407-1]
NP_937757.1. NM_198124.1. [Q7Z407-2]
UniGeneiHs.91381.

3D structure databases

ProteinModelPortaliQ7Z407.
SMRiQ7Z407. Positions 65-376, 486-3468.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125350. 1 interaction.
STRINGi9606.ENSP00000297405.

PTM databases

PhosphoSiteiQ7Z407.

Polymorphism and mutation databases

BioMutaiCSMD3.
DMDMi257051058.

Proteomic databases

EPDiQ7Z407.
MaxQBiQ7Z407.
PaxDbiQ7Z407.
PRIDEiQ7Z407.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297405; ENSP00000297405; ENSG00000164796. [Q7Z407-1]
ENST00000343508; ENSP00000345799; ENSG00000164796. [Q7Z407-2]
ENST00000455883; ENSP00000412263; ENSG00000164796. [Q7Z407-3]
GeneIDi114788.
KEGGihsa:114788.
UCSCiuc003ynt.4. human. [Q7Z407-1]

Organism-specific databases

CTDi114788.
GeneCardsiCSMD3.
HGNCiHGNC:19291. CSMD3.
HPAiHPA029007.
MIMi608399. gene.
neXtProtiNX_Q7Z407.
PharmGKBiPA134926063.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ7Z407.
KOiK17495.
OMAiILRFECQ.
OrthoDBiEOG7FNC6J.
PhylomeDBiQ7Z407.
TreeFamiTF316872.

Miscellaneous databases

GenomeRNAii114788.
NextBioi79187.
PROiQ7Z407.
SOURCEiSearch...

Gene expression databases

BgeeiQ7Z407.
CleanExiHS_CSMD3.
ExpressionAtlasiQ7Z407. baseline and differential.
GenevisibleiQ7Z407. HS.

Family and domain databases

Gene3Di2.60.120.290. 14 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 14 hits.
PF00084. Sushi. 28 hits.
[Graphical view]
SMARTiSM00032. CCP. 28 hits.
SM00042. CUB. 14 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 14 hits.
SSF57535. SSF57535. 28 hits.
PROSITEiPS01180. CUB. 14 hits.
PS50923. SUSHI. 28 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of two new members of the CSMD gene family."
    Lau W.L., Scholnick S.B.
    Genomics 82:412-415(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  2. "A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1."
    Shimizu A., Asakawa S., Shimizu N.
    Biochem. Biophys. Res. Commun. 309:143-154(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS MET-219 AND HIS-3621.
    Tissue: Brain and Testis.
  3. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 661-3707 (ISOFORM 4), TISSUE SPECIFICITY.
    Tissue: Brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2271-3707 (ISOFORM 5).
    Tissue: Liver.
  5. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-322; HIS-3079 AND GLN-3359.
  6. Cited for: VARIANT CYS-2020.

Entry informationi

Entry nameiCSMD3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z407
Secondary accession number(s): Q96PZ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: September 1, 2009
Last modified: April 13, 2016
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.