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Protein

CUB and sushi domain-containing protein 1

Gene

CSMD1

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

Functioni

Potential suppressor of squamous cell carcinomas.

Names & Taxonomyi

Protein namesi
Recommended name:
CUB and sushi domain-containing protein 1
Alternative name(s):
CUB and sushi multiple domains protein 1
Gene namesi
Name:CSMD1
Synonyms:KIAA1890
ORF Names:UNQ5952/PRO19863
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:14026. CSMD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 34883462ExtracellularSequence analysisAdd
BLAST
Transmembranei3489 – 350921HelicalSequence analysisAdd
BLAST
Topological domaini3510 – 356556CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26947.

Polymorphism and mutation databases

BioMutaiCSMD1.
DMDMi38604975.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence analysisAdd
BLAST
Chaini27 – 35653539CUB and sushi domain-containing protein 1PRO_0000021025Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi32 ↔ 58By similarity
Glycosylationi40 – 401N-linked (GlcNAc...)Sequence analysis
Glycosylationi57 – 571N-linked (GlcNAc...)Sequence analysis
Disulfide bondi145 ↔ 185By similarity
Disulfide bondi171 ↔ 202By similarity
Disulfide bondi208 ↔ 234By similarity
Disulfide bondi349 ↔ 390By similarity
Disulfide bondi376 ↔ 407By similarity
Disulfide bondi412 ↔ 438By similarity
Disulfide bondi528 ↔ 568By similarity
Disulfide bondi554 ↔ 581By similarity
Disulfide bondi585 ↔ 611By similarity
Glycosylationi588 – 5881N-linked (GlcNAc...)Sequence analysis
Glycosylationi687 – 6871N-linked (GlcNAc...)Sequence analysis
Disulfide bondi698 ↔ 739By similarity
Disulfide bondi724 ↔ 755By similarity
Disulfide bondi759 ↔ 785By similarity
Disulfide bondi874 ↔ 914By similarity
Disulfide bondi900 ↔ 927By similarity
Disulfide bondi931 ↔ 957By similarity
Glycosylationi956 – 9561N-linked (GlcNAc...)Sequence analysis
Glycosylationi1016 – 10161N-linked (GlcNAc...)Sequence analysis
Glycosylationi1035 – 10351N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1046 ↔ 1086By similarity
Disulfide bondi1072 ↔ 1101By similarity
Disulfide bondi1105 ↔ 1131By similarity
Glycosylationi1185 – 11851N-linked (GlcNAc...)Sequence analysis
Glycosylationi1198 – 11981N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1218 ↔ 1259By similarity
Disulfide bondi1245 ↔ 1274By similarity
Disulfide bondi1278 ↔ 1305By similarity
Disulfide bondi1392 ↔ 1432By similarity
Glycosylationi1400 – 14001N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1418 ↔ 1448By similarity
Disulfide bondi1452 ↔ 1478By similarity
Glycosylationi1455 – 14551N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1565 ↔ 1605By similarity
Glycosylationi1573 – 15731N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1591 ↔ 1622By similarity
Disulfide bondi1626 ↔ 1652By similarity
Glycosylationi1645 – 16451N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1742 ↔ 1782By similarity
Disulfide bondi1768 ↔ 1799By similarity
Glycosylationi1793 – 17931N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1803 ↔ 1829By similarity
Glycosylationi1806 – 18061N-linked (GlcNAc...)Sequence analysis
Glycosylationi1883 – 18831N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1916 ↔ 1956By similarity
Disulfide bondi1942 ↔ 1971By similarity
Disulfide bondi1975 ↔ 2001By similarity
Glycosylationi2019 – 20191N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2088 ↔ 2128By similarity
Disulfide bondi2114 ↔ 2143By similarity
Disulfide bondi2147 ↔ 2173By similarity
Glycosylationi2150 – 21501N-linked (GlcNAc...)Sequence analysis
Glycosylationi2155 – 21551N-linked (GlcNAc...)Sequence analysis
Glycosylationi2188 – 21881N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2259 ↔ 2301By similarity
Disulfide bondi2287 ↔ 2316By similarity
Disulfide bondi2320 ↔ 2348By similarity
Glycosylationi2359 – 23591N-linked (GlcNAc...)Sequence analysis
Glycosylationi2395 – 23951N-linked (GlcNAc...)Sequence analysis
Glycosylationi2401 – 24011N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2433 ↔ 2474By similarity
Glycosylationi2446 – 24461N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2460 ↔ 2491By similarity
Glycosylationi2471 – 24711N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2496 ↔ 2538By similarity
Glycosylationi2504 – 25041N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2522 ↔ 2553By similarity
Disulfide bondi2558 ↔ 2603By similarity
Disulfide bondi2589 ↔ 2618By similarity
Glycosylationi2606 – 26061N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2623 ↔ 2663By similarity
Disulfide bondi2649 ↔ 2676By similarity
Disulfide bondi2681 ↔ 2721By similarity
Disulfide bondi2707 ↔ 2734By similarity
Disulfide bondi2739 ↔ 2779By similarity
Glycosylationi2751 – 27511N-linked (GlcNAc...)Sequence analysis
Glycosylationi2762 – 27621N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2765 ↔ 2792By similarity
Glycosylationi2796 – 27961N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2797 ↔ 2842By similarity
Disulfide bondi2828 ↔ 2855By similarity
Disulfide bondi2860 ↔ 2900By similarity
Disulfide bondi2886 ↔ 2913By similarity
Glycosylationi2895 – 28951N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2921 ↔ 2961By similarity
Disulfide bondi2947 ↔ 2974By similarity
Glycosylationi2964 – 29641N-linked (GlcNAc...)Sequence analysis
Disulfide bondi2979 ↔ 3020By similarity
Disulfide bondi3006 ↔ 3033By similarity
Glycosylationi3023 – 30231N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3038 ↔ 3080By similarity
Glycosylationi3057 – 30571N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3064 ↔ 3093By similarity
Disulfide bondi3098 ↔ 3138By similarity
Glycosylationi3106 – 31061N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3124 ↔ 3151By similarity
Disulfide bondi3156 ↔ 3196By similarity
Disulfide bondi3182 ↔ 3209By similarity
Disulfide bondi3217 ↔ 3258By similarity
Glycosylationi3229 – 32291N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3244 ↔ 3271By similarity
Glycosylationi3261 – 32611N-linked (GlcNAc...)Sequence analysis
Disulfide bondi3276 ↔ 3318By similarity
Disulfide bondi3303 ↔ 3331By similarity
Glycosylationi3340 – 33401N-linked (GlcNAc...)Sequence analysis
Glycosylationi3380 – 33801N-linked (GlcNAc...)Sequence analysis
Glycosylationi3387 – 33871N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ96PZ7.
PaxDbiQ96PZ7.
PeptideAtlasiQ96PZ7.
PRIDEiQ96PZ7.

PTM databases

iPTMnetiQ96PZ7.
PhosphoSiteiQ96PZ7.

Expressioni

Tissue specificityi

Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain.1 Publication

Gene expression databases

CleanExiHS_CSMD1.

Interactioni

Protein-protein interaction databases

BioGridi122185. 2 interactions.
IntActiQ96PZ7. 2 interactions.
STRINGi9606.ENSP00000441462.

Structurei

Secondary structure

1
3565
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi535 – 5406Combined sources
Beta strandi549 – 5535Combined sources
Beta strandi564 – 5685Combined sources
Beta strandi570 – 5767Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2EHFNMR-A522-581[»]
ProteinModelPortaliQ96PZ7.
SMRiQ96PZ7. Positions 31-309, 409-3373.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96PZ7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini32 – 140109CUB 1PROSITE-ProRule annotationAdd
BLAST
Domaini143 – 20462Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini208 – 312105CUB 2PROSITE-ProRule annotationAdd
BLAST
Domaini347 – 40963Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini412 – 523112CUB 3PROSITE-ProRule annotationAdd
BLAST
Domaini526 – 58358Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini585 – 693109CUB 4PROSITE-ProRule annotationAdd
BLAST
Domaini696 – 75762Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini759 – 867109CUB 5PROSITE-ProRule annotationAdd
BLAST
Domaini872 – 92958Sushi 5PROSITE-ProRule annotationAdd
BLAST
Domaini931 – 1041111CUB 6PROSITE-ProRule annotationAdd
BLAST
Domaini1044 – 110360Sushi 6PROSITE-ProRule annotationAdd
BLAST
Domaini1105 – 1213109CUB 7PROSITE-ProRule annotationAdd
BLAST
Domaini1216 – 127661Sushi 7PROSITE-ProRule annotationAdd
BLAST
Domaini1278 – 1387110CUB 8PROSITE-ProRule annotationAdd
BLAST
Domaini1390 – 145061Sushi 8PROSITE-ProRule annotationAdd
BLAST
Domaini1452 – 1560109CUB 9PROSITE-ProRule annotationAdd
BLAST
Domaini1563 – 162462Sushi 9PROSITE-ProRule annotationAdd
BLAST
Domaini1626 – 1734109CUB 10PROSITE-ProRule annotationAdd
BLAST
Domaini1740 – 180162Sushi 10PROSITE-ProRule annotationAdd
BLAST
Domaini1803 – 1911109CUB 11PROSITE-ProRule annotationAdd
BLAST
Domaini1914 – 197360Sushi 11PROSITE-ProRule annotationAdd
BLAST
Domaini1975 – 2083109CUB 12PROSITE-ProRule annotationAdd
BLAST
Domaini2086 – 214560Sushi 12PROSITE-ProRule annotationAdd
BLAST
Domaini2147 – 2258112CUB 13PROSITE-ProRule annotationAdd
BLAST
Domaini2257 – 231862Sushi 13PROSITE-ProRule annotationAdd
BLAST
Domaini2320 – 2431112CUB 14PROSITE-ProRule annotationAdd
BLAST
Domaini2431 – 249363Sushi 14PROSITE-ProRule annotationAdd
BLAST
Domaini2494 – 255562Sushi 15PROSITE-ProRule annotationAdd
BLAST
Domaini2556 – 262065Sushi 16PROSITE-ProRule annotationAdd
BLAST
Domaini2621 – 267858Sushi 17PROSITE-ProRule annotationAdd
BLAST
Domaini2679 – 273658Sushi 18PROSITE-ProRule annotationAdd
BLAST
Domaini2737 – 279458Sushi 19PROSITE-ProRule annotationAdd
BLAST
Domaini2795 – 285763Sushi 20PROSITE-ProRule annotationAdd
BLAST
Domaini2858 – 291558Sushi 21PROSITE-ProRule annotationAdd
BLAST
Domaini2919 – 297658Sushi 22PROSITE-ProRule annotationAdd
BLAST
Domaini2977 – 303559Sushi 23PROSITE-ProRule annotationAdd
BLAST
Domaini3036 – 309560Sushi 24PROSITE-ProRule annotationAdd
BLAST
Domaini3096 – 315358Sushi 25PROSITE-ProRule annotationAdd
BLAST
Domaini3154 – 321158Sushi 26PROSITE-ProRule annotationAdd
BLAST
Domaini3215 – 327359Sushi 27PROSITE-ProRule annotationAdd
BLAST
Domaini3274 – 333360Sushi 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, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ96PZ7.
KOiK17495.
PhylomeDBiQ96PZ7.

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 (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96PZ7-1) [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
MTAWRRFQSL LLLLGLLVLC ARLLTAAKGQ NCGGLVQGPN GTIESPGFPH
60 70 80 90 100
GYPNYANCTW IIITGERNRI QLSFHTFALE ENFDILSVYD GQPQQGNLKV
110 120 130 140 150
RLSGFQLPSS IVSTGSILTL WFTTDFAVSA QGFKALYEVL PSHTCGNPGE
160 170 180 190 200
ILKGVLHGTR FNIGDKIRYS CLPGYILEGH AILTCIVSPG NGASWDFPAP
210 220 230 240 250
FCRAEGACGG TLRGTSSSIS SPHFPSEYEN NADCTWTILA EPGDTIALVF
260 270 280 290 300
TDFQLEEGYD FLEISGTEAP SIWLTGMNLP SPVISSKNWL RLHFTSDSNH
310 320 330 340 350
RRKGFNAQFQ VKKAIELKSR GVKMLPSKDG SHKNSVLSQG GVALVSHMCL
360 370 380 390 400
DPGIPENGRR AGSDFSRVGA NVQFSCEDNY VLQGSKSITC QRVTETLAAW
410 420 430 440 450
SDHRPICRAR TCGSNLRGPS GVITSPNYPV QYEDNAHCVW VITTTDPDKV
460 470 480 490 500
IKLAFEEFEL ERGYDTLTVG DAGKVGDTRS VLYVLTGSSV PDLIVSMSNQ
510 520 530 540 550
MWLHLQSDDS IGSPGFKAVY QEIEKGGCGD PGIPAYGKRT GSSFLHGDTL
560 570 580 590 600
TFECPAAFEL VGERVITCQQ NNQWSGNKPS CVFSCFFNFT ASSGIILSPN
610 620 630 640 650
YPEEYGNNMN CVWLIISEPG SRIHLIFNDF DVEPQFDFLA VKDDGISDIT
660 670 680 690 700
VLGTFSGNEV PSQLASSGHI VRLEFQSDHS TTGRGFNITY TTFGQNECHD
710 720 730 740 750
PGIPINGRRF GDRFLLGSSV SFHCDDGFVK TQGSESITCI LQDGNVVWSS
760 770 780 790 800
TVPRCEAPCG GHLTASSGVI LPPGWPGYYK DSLHCEWIIE AKPGHSIKMT
810 820 830 840 850
FDRFQTEVNY DTLEVRDGPA SSSPLIGEYH GTQAPQFLIS TGNFMYLLFT
860 870 880 890 900
TDNSRSSIGF LIHYESVTLE SDSCLDPGIP VNGHRHGGDF GIRSTVTFSC
910 920 930 940 950
DPGYTLSDDE PLVCERNHQW NHALPSCDAL CGGYIQGKSG TVLSPGFPDF
960 970 980 990 1000
YPNSLNCTWT IEVSHGKGVQ MIFHTFHLES SHDYLLITED GSFSEPVARL
1010 1020 1030 1040 1050
TGSVLPHTIK AGLFGNFTAQ LRFISDFSIS YEGFNITFSE YDLEPCDDPG
1060 1070 1080 1090 1100
VPAFSRRIGF HFGVGDSLTF SCFLGYRLEG ATKLTCLGGG RRVWSAPLPR
1110 1120 1130 1140 1150
CVAECGASVK GNEGTLLSPN FPSNYDNTHE CIYKIETEAG KGIHLRTRSF
1160 1170 1180 1190 1200
QLFEGDTLKV YDGKDSSSRP LGTFTKNELL GLILNSTSNH LWLEFNTNGS
1210 1220 1230 1240 1250
DTDQGFQLTY TSFDLVKCED PGIPNYGYRI RDEGHFTDTV VLYSCNPGYA
1260 1270 1280 1290 1300
MHGSNTLTCL SGDRRVWDKP LPSCIAECGG QIHAATSGRI LSPGYPAPYD
1310 1320 1330 1340 1350
NNLHCTWIIE ADPGKTISLH FIVFDTEMAH DILKVWDGPV DSDILLKEWS
1360 1370 1380 1390 1400
GSALPEDIHS TFNSLTLQFD SDFFISKSGF SIQFSTSIAA TCNDPGMPQN
1410 1420 1430 1440 1450
GTRYGDSREA GDTVTFQCDP GYQLQGQAKI TCVQLNNRFF WQPDPPTCIA
1460 1470 1480 1490 1500
ACGGNLTGPA GVILSPNYPQ PYPPGKECDW RVKVNPDFVI ALIFKSFNME
1510 1520 1530 1540 1550
PSYDFLHIYE GEDSNSPLIG SYQGSQAPER IESSGNSLFL AFRSDASVGL
1560 1570 1580 1590 1600
SGFAIEFKEK PREACFDPGN IMNGTRVGTD FKLGSTITYQ CDSGYKILDP
1610 1620 1630 1640 1650
SSITCVIGAD GKPSWDQVLP SCNAPCGGQY TGSEGVVLSP NYPHNYTAGQ
1660 1670 1680 1690 1700
ICLYSITVPK EFVVFGQFAY FQTALNDLAE LFDGTHAQAR LLSSLSGSHS
1710 1720 1730 1740 1750
GETLPLATSN QILLRFSAKS GASARGFHFV YQAVPRTSDT QCSSVPEPRY
1760 1770 1780 1790 1800
GRRIGSEFSA GSIVRFECNP GYLLQGSTAL HCQSVPNALA QWNDTIPSCV
1810 1820 1830 1840 1850
VPCSGNFTQR RGTILSPGYP EPYGNNLNCI WKIIVTEGSG IQIQVISFAT
1860 1870 1880 1890 1900
EQNWDSLEIH DGGDVTAPRL GSFSGTTVPA LLNSTSNQLY LHFQSDISVA
1910 1920 1930 1940 1950
AAGFHLEYKT VGLAACQEPA LPSNSIKIGD RYMVNDVLSF QCEPGYTLQG
1960 1970 1980 1990 2000
RSHISCMPGT VRRWNYPSPL CIATCGGTLS TLGGVILSPG FPGSYPNNLD
2010 2020 2030 2040 2050
CTWRISLPIG YGAHIQFLNF STEANHDFLE IQNGPYHTSP MIGQFSGTDL
2060 2070 2080 2090 2100
PAALLSTTHE TLIHFYSDHS QNRQGFKLAY QAYELQNCPD PPPFQNGYMI
2110 2120 2130 2140 2150
NSDYSVGQSV SFECYPGYIL IGHPVLTCQH GINRNWNYPF PRCDAPCGYN
2160 2170 2180 2190 2200
VTSQNGTIYS PGFPDEYPIL KDCIWLITVP PGHGVYINFT LLQTEAVNDY
2210 2220 2230 2240 2250
IAVWDGPDQN SPQLGVFSGN TALETAYSST NQVLLKFHSD FSNGGFFVLN
2260 2270 2280 2290 2300
FHAFQLKKCQ PPPAVPQAEM LTEDDDFEIG DFVKYQCHPG YTLVGTDILT
2310 2320 2330 2340 2350
CKLSSQLQFE GSLPTCEAQC PANEVRTGSS GVILSPGYPG NYFNSQTCSW
2360 2370 2380 2390 2400
SIKVEPNYNI TIFVDTFQSE KQFDALEVFD GSSGQSPLLV VLSGNHTEQS
2410 2420 2430 2440 2450
NFTSRSNQLY LRWSTDHATS KKGFKIRYAA PYCSLTHPLK NGGILNRTAG
2460 2470 2480 2490 2500
AVGSKVHYFC KPGYRMVGHS NATCRRNPLG MYQWDSLTPL CQAVSCGIPE
2510 2520 2530 2540 2550
SPGNGSFTGN EFTLDSKVVY ECHEGFKLES SQQATAVCQE DGLWSNKGKP
2560 2570 2580 2590 2600
PMCKPVACPS IEAQLSEHVI WRLVSGSLNE YGAQVLLSCS PGYYLEGWRL
2610 2620 2630 2640 2650
LRCQANGTWN IGDERPSCRV ISCGSLSFPP NGNKIGTLTV YGATAIFTCN
2660 2670 2680 2690 2700
TGYTLVGSHV RECLANGLWS GSETRCLAGH CGSPDPIVNG HISGDGFSYR
2710 2720 2730 2740 2750
DTVVYQCNPG FRLVGTSVRI CLQDHKWSGQ TPVCVPITCG HPGNPAHGFT
2760 2770 2780 2790 2800
NGSEFNLNDV VNFTCNTGYL LQGVSRAQCR SNGQWSSPLP TCRVVNCSDP
2810 2820 2830 2840 2850
GFVENAIRHG QQNFPESFEY GMSILYHCKK GFHLLGSSAL TCMANGLWDR
2860 2870 2880 2890 2900
SLPKCLAISC GHPGVPANAV LTGELFTYGA VVHYSCRGSE SLIGNDTRVC
2910 2920 2930 2940 2950
QEDSHWSGAL PHCTGNNPGF CGDPGTPAHG SRLGDDFKTK SLLRFSCEMG
2960 2970 2980 2990 3000
HQLRGSPERT CLLNGSWSGL QPVCEAVSCG NPGTPTNGMI VSSDGILFSS
3010 3020 3030 3040 3050
SVIYACWEGY KTSGLMTRHC TANGTWTGTA PDCTIISCGD PGTLANGIQF
3060 3070 3080 3090 3100
GTDFTFNKTV SYQCNPGYVM EAVTSATIRC TKDGRWNPSK PVCKAVLCPQ
3110 3120 3130 3140 3150
PPPVQNGTVE GSDFRWGSSI SYSCMDGYQL SHSAILSCEG RGVWKGEIPQ
3160 3170 3180 3190 3200
CLPVFCGDPG IPAEGRLSGK SFTYKSEVFF QCKSPFILVG SSRRVCQADG
3210 3220 3230 3240 3250
TWSGIQPTCI DPAHNTCPDP GTPHFGIQNS SRGYEVGSTV FFRCRKGYHI
3260 3270 3280 3290 3300
QGSTTRTCLA NLTWSGIQTE CIPHACRQPE TPAHADVRAI DLPTFGYTLV
3310 3320 3330 3340 3350
YTCHPGFFLA GGSEHRTCKA DMKWTGKSPV CKSKGVREVN ETVTKTPVPS
3360 3370 3380 3390 3400
DVFFVNSLWK GYYEYLGKRQ PATLTVDWFN ATSSKVNATF SEASPVELKL
3410 3420 3430 3440 3450
TGIYKKEEAH LLLKAFQIKG QADIFVSKFE NDNWGLDGYV SSGLERGGFT
3460 3470 3480 3490 3500
FQGDIHGKDF GKFKLERQDP LNPDQDSSSH YHGTSSGSVA AAILVPFFAL
3510 3520 3530 3540 3550
ILSGFAFYLY KHRTRPKVQY NGYAGHENSN GQASFENPMY DTNLKPTEAK
3560
AVRFDTTLNT VCTVV
Length:3,565
Mass (Da):388,869
Last modified:November 28, 2003 - v2
Checksum:i9D4476AD97C72320
GO
Isoform 2 (identifier: Q96PZ7-2) [UniParc]FASTAAdd to basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     2620-2677: Missing.
     2976-3094: Missing.

Show »
Length:3,388
Mass (Da):370,317
Checksum:i3866EBFB2E86DE84
GO
Isoform 3 (identifier: Q96PZ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2082-2110: AYELQNCPDPPPFQNGYMINSDYSVGQSV → GGSGNIGPAFPCLDTPFQARCQGEERTFN
     2111-3565: Missing.

Note: No experimental confirmation available.
Show »
Length:2,110
Mass (Da):230,143
Checksum:i406093FAF513EAD2
GO
Isoform 4 (identifier: Q96PZ7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2013-2013: A → K
     2014-3565: Missing.

Show »
Length:2,013
Mass (Da):219,401
Checksum:iD09488A7A40D828C
GO

Sequence cautioni

The sequence AAQ88541.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti644 – 6441D → N in AAG52948 (PubMed:11472063).Curated
Sequence conflicti1128 – 11281T → N in AAQ88541 (PubMed:12975309).Curated
Sequence conflicti1128 – 11281T → N in BAB67783 (PubMed:11572484).Curated
Sequence conflicti1462 – 14621V → I in AK126936 (PubMed:14702039).Curated
Sequence conflicti1843 – 185715IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAK73475 (PubMed:11472063).CuratedAdd
BLAST
Sequence conflicti1843 – 185715IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAG52948 (PubMed:11472063).CuratedAdd
BLAST
Sequence conflicti2062 – 20621L → F in AK126936 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2041 – 20411M → I.
Corresponds to variant rs6995799 [ dbSNP | Ensembl ].
VAR_059634
Natural varianti3312 – 33121G → W.
Corresponds to variant rs34079122 [ dbSNP | Ensembl ].
VAR_056846
Natural varianti3370 – 33701Q → H.
Corresponds to variant rs34337712 [ dbSNP | Ensembl ].
VAR_059635
Natural varianti3479 – 34791S → N.
Corresponds to variant rs11984691 [ dbSNP | Ensembl ].
VAR_059636

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2013 – 20131A → K in isoform 4. 2 PublicationsVSP_009032
Alternative sequencei2014 – 35651552Missing in isoform 4. 2 PublicationsVSP_009033Add
BLAST
Alternative sequencei2082 – 211029AYELQ…VGQSV → GGSGNIGPAFPCLDTPFQAR CQGEERTFN in isoform 3. 1 PublicationVSP_009030Add
BLAST
Alternative sequencei2111 – 35651455Missing in isoform 3. 1 PublicationVSP_009031Add
BLAST
Alternative sequencei2620 – 267758Missing in isoform 2. 1 PublicationVSP_009034Add
BLAST
Alternative sequencei2976 – 3094119Missing in isoform 2. 1 PublicationVSP_009035Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF333704 mRNA. Translation: AAK73475.2.
AY017307 mRNA. Translation: AAG52948.1.
DQ384438 Genomic DNA. Translation: ABD48881.1.
DQ384439 Genomic DNA. Translation: ABD48882.1.
DQ384440 Genomic DNA. Translation: ABD48883.1.
DQ384441 Genomic DNA. Translation: ABD48884.1.
DQ384442 Genomic DNA. Translation: ABD48885.1.
AY358174 mRNA. Translation: AAQ88541.1. Different initiation.
AB067477 mRNA. Translation: BAB67783.1.
AK126936 mRNA. No translation available.
RefSeqiNP_150094.5. NM_033225.5.
UniGeneiHs.571466.

Genome annotation databases

GeneIDi64478.
KEGGihsa:64478.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF333704 mRNA. Translation: AAK73475.2.
AY017307 mRNA. Translation: AAG52948.1.
DQ384438 Genomic DNA. Translation: ABD48881.1.
DQ384439 Genomic DNA. Translation: ABD48882.1.
DQ384440 Genomic DNA. Translation: ABD48883.1.
DQ384441 Genomic DNA. Translation: ABD48884.1.
DQ384442 Genomic DNA. Translation: ABD48885.1.
AY358174 mRNA. Translation: AAQ88541.1. Different initiation.
AB067477 mRNA. Translation: BAB67783.1.
AK126936 mRNA. No translation available.
RefSeqiNP_150094.5. NM_033225.5.
UniGeneiHs.571466.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2EHFNMR-A522-581[»]
ProteinModelPortaliQ96PZ7.
SMRiQ96PZ7. Positions 31-309, 409-3373.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122185. 2 interactions.
IntActiQ96PZ7. 2 interactions.
STRINGi9606.ENSP00000441462.

PTM databases

iPTMnetiQ96PZ7.
PhosphoSiteiQ96PZ7.

Polymorphism and mutation databases

BioMutaiCSMD1.
DMDMi38604975.

Proteomic databases

EPDiQ96PZ7.
PaxDbiQ96PZ7.
PeptideAtlasiQ96PZ7.
PRIDEiQ96PZ7.

Protocols and materials databases

DNASUi64478.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi64478.
KEGGihsa:64478.

Organism-specific databases

CTDi64478.
GeneCardsiCSMD1.
H-InvDBHIX0007277.
HGNCiHGNC:14026. CSMD1.
MIMi608397. gene.
neXtProtiNX_Q96PZ7.
PharmGKBiPA26947.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
HOGENOMiHOG000112015.
HOVERGENiHBG051134.
InParanoidiQ96PZ7.
KOiK17495.
PhylomeDBiQ96PZ7.

Miscellaneous databases

ChiTaRSiCSMD1. human.
EvolutionaryTraceiQ96PZ7.
GeneWikiiCSMD1.
GenomeRNAii64478.
PROiQ96PZ7.
SOURCEiSearch...

Gene expression databases

CleanExiHS_CSMD1.

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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 140-203.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 825-3565 (ISOFORM 4).
  4. "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 966-2013 (ISOFORM 4), TISSUE SPECIFICITY.
    Tissue: Brain.
  5. "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 1319-3565 (ISOFORM 3).
    Tissue: Brain.
  6. "The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis."
    Toomes C., Jackson A., Maguire K., Wood J., Gollin S., Ishwad C., Paterson I., Prime S., Parkinson K., Bell S., Woods G., Markham A., Oliver R., Woodward R., Sloan P., Dixon M., Read A., Thakker N.
    Genes Chromosomes Cancer 37:132-140(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CANDIDATE FOR OSCCS.
  7. "The role of CSMD1 in head and neck carcinogenesis."
    Scholnick S.B., Richter T.M.
    Genes Chromosomes Cancer 38:281-283(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CANDIDATE FOR OSCCS.
  8. "Solution structure of the third sushi domain from human CUB and sushi domain-containing protein 1."
    RIKEN structural genomics initiative (RSGI)
    Submitted (SEP-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 522-581.

Entry informationi

Entry nameiCSMD1_HUMAN
AccessioniPrimary (citable) accession number: Q96PZ7
Secondary accession number(s): Q0H0J5, Q96QU9, Q96RM4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: November 28, 2003
Last modified: July 6, 2016
This is version 126 of the entry and version 2 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

Miscellaneous

CSMD1 may be a candidate for oral and oropharyngeal squamous cell carcinomas (OSCCs). PubMed:12696061 and PubMed:14506705 are however in disagreement: while PubMed:14506705 considers CSMD1 as a strong candidate for OSCCs, PubMed:12696061 thinks it is not.

Keywords - Technical termi

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.