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Reviewed, UniProtKB/Swiss-Prot Q96PZ7 (CSMD1_HUMAN)

Last modified June 16, 2009. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    CUB and sushi domain-containing protein 1
Alternative name(s):
    CUB and sushi multiple domains protein 1
Gene names
Name: CSMD1
Synonyms: KIAA1890
ORF Names: UNQ5952/PRO19863
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length3565 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Potential suppressor of squamous cell carcinomas.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Ref.4

Involvement in disease

Defects in CSMD1 may be a cause of oral and oropharyngeal squamous cell carcinomas (OSCCs). Ref.6 and Ref.7 are however in disagreement: while Ref.7 considers CSMD1 as a strong candidate for OSCCs, Ref.6 thinks it is not. Ref.6 Ref.7

Sequence similarities

Belongs to the CSMD family.

Contains 14 CUB domains.

Contains 28 Sushi (CCP/SCR) domains.

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Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Sushi
Transmembrane
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

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Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96PZ7-1)

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.
Isoform 2 (identifier: Q96PZ7-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     2620-2677: Missing.
     2976-3094: Missing.
Isoform 3 (identifier: Q96PZ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     2082-2110: AYELQNCPDPPPFQNGYMINSDYSVGQSV → GGSGNIGPAFPCLDTPFQARCQGEERTFN
     2111-3565: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96PZ7-4)

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

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 35653539CUB and sushi domain-containing protein 1
PRO_0000021025

Regions

Topological domain27 – 34883462Extracellular Potential
Transmembrane3489 – 350921 Potential
Topological domain3510 – 356556Cytoplasmic Potential
Domain32 – 140109CUB 1
Domain143 – 20462Sushi 1
Domain208 – 312105CUB 2
Domain347 – 40963Sushi 2
Domain412 – 523112CUB 3
Domain526 – 58358Sushi 3
Domain585 – 693109CUB 4
Domain696 – 75762Sushi 4
Domain759 – 867109CUB 5
Domain872 – 92958Sushi 5
Domain931 – 1041111CUB 6
Domain1044 – 110360Sushi 6
Domain1105 – 1213109CUB 7
Domain1216 – 127661Sushi 7
Domain1278 – 1387110CUB 8
Domain1390 – 145061Sushi 8
Domain1452 – 1560109CUB 9
Domain1563 – 162462Sushi 9
Domain1626 – 1734109CUB 10
Domain1740 – 180162Sushi 10
Domain1803 – 1911109CUB 11
Domain1914 – 197360Sushi 11
Domain1975 – 2083109CUB 12
Domain2086 – 214560Sushi 12
Domain2147 – 2258112CUB 13
Domain2257 – 231862Sushi 13
Domain2320 – 2431112CUB 14
Domain2431 – 249363Sushi 14
Domain2494 – 255562Sushi 15
Domain2556 – 262065Sushi 16
Domain2621 – 267858Sushi 17
Domain2679 – 273658Sushi 18
Domain2737 – 279458Sushi 19
Domain2795 – 285763Sushi 20
Domain2858 – 291558Sushi 21
Domain2919 – 297658Sushi 22
Domain2977 – 303559Sushi 23
Domain3036 – 309560Sushi 24
Domain3096 – 315358Sushi 25
Domain3154 – 321158Sushi 26
Domain3215 – 327359Sushi 27
Domain3274 – 333360Sushi 28

Amino acid modifications

Glycosylation401N-linked (GlcNAc...) Potential
Glycosylation571N-linked (GlcNAc...) Potential
Glycosylation5881N-linked (GlcNAc...) Potential
Glycosylation6871N-linked (GlcNAc...) Potential
Glycosylation9561N-linked (GlcNAc...) Potential
Glycosylation10161N-linked (GlcNAc...) Potential
Glycosylation10351N-linked (GlcNAc...) Potential
Glycosylation11851N-linked (GlcNAc...) Potential
Glycosylation11981N-linked (GlcNAc...) Potential
Glycosylation14001N-linked (GlcNAc...) Potential
Glycosylation14551N-linked (GlcNAc...) Potential
Glycosylation15731N-linked (GlcNAc...) Potential
Glycosylation16451N-linked (GlcNAc...) Potential
Glycosylation17931N-linked (GlcNAc...) Potential
Glycosylation18061N-linked (GlcNAc...) Potential
Glycosylation18831N-linked (GlcNAc...) Potential
Glycosylation20191N-linked (GlcNAc...) Potential
Glycosylation21501N-linked (GlcNAc...) Potential
Glycosylation21551N-linked (GlcNAc...) Potential
Glycosylation21881N-linked (GlcNAc...) Potential
Glycosylation23591N-linked (GlcNAc...) Potential
Glycosylation23951N-linked (GlcNAc...) Potential
Glycosylation24011N-linked (GlcNAc...) Potential
Glycosylation24461N-linked (GlcNAc...) Potential
Glycosylation24711N-linked (GlcNAc...) Potential
Glycosylation25041N-linked (GlcNAc...) Potential
Glycosylation26061N-linked (GlcNAc...) Potential
Glycosylation27511N-linked (GlcNAc...) Potential
Glycosylation27621N-linked (GlcNAc...) Potential
Glycosylation27961N-linked (GlcNAc...) Potential
Glycosylation28951N-linked (GlcNAc...) Potential
Glycosylation29641N-linked (GlcNAc...) Potential
Glycosylation30231N-linked (GlcNAc...) Potential
Glycosylation30571N-linked (GlcNAc...) Potential
Glycosylation31061N-linked (GlcNAc...) Potential
Glycosylation32291N-linked (GlcNAc...) Potential
Glycosylation32611N-linked (GlcNAc...) Potential
Glycosylation33401N-linked (GlcNAc...) Potential
Glycosylation33801N-linked (GlcNAc...) Potential
Glycosylation33871N-linked (GlcNAc...) Potential
Disulfide bond32 ↔ 58 By similarity
Disulfide bond145 ↔ 185 By similarity
Disulfide bond171 ↔ 202 By similarity
Disulfide bond208 ↔ 234 By similarity
Disulfide bond349 ↔ 390 By similarity
Disulfide bond376 ↔ 407 By similarity
Disulfide bond412 ↔ 438 By similarity
Disulfide bond528 ↔ 568 By similarity
Disulfide bond554 ↔ 581 By similarity
Disulfide bond585 ↔ 611 By similarity
Disulfide bond698 ↔ 739 By similarity
Disulfide bond724 ↔ 755 By similarity
Disulfide bond759 ↔ 785 By similarity
Disulfide bond874 ↔ 914 By similarity
Disulfide bond900 ↔ 927 By similarity
Disulfide bond931 ↔ 957 By similarity
Disulfide bond1046 ↔ 1086 By similarity
Disulfide bond1072 ↔ 1101 By similarity
Disulfide bond1105 ↔ 1131 By similarity
Disulfide bond1218 ↔ 1259 By similarity
Disulfide bond1245 ↔ 1274 By similarity
Disulfide bond1278 ↔ 1305 By similarity
Disulfide bond1392 ↔ 1432 By similarity
Disulfide bond1418 ↔ 1448 By similarity
Disulfide bond1452 ↔ 1478 By similarity
Disulfide bond1565 ↔ 1605 By similarity
Disulfide bond1591 ↔ 1622 By similarity
Disulfide bond1626 ↔ 1652 By similarity
Disulfide bond1742 ↔ 1782 By similarity
Disulfide bond1768 ↔ 1799 By similarity
Disulfide bond1803 ↔ 1829 By similarity
Disulfide bond1916 ↔ 1956 By similarity
Disulfide bond1942 ↔ 1971 By similarity
Disulfide bond1975 ↔ 2001 By similarity
Disulfide bond2088 ↔ 2128 By similarity
Disulfide bond2114 ↔ 2143 By similarity
Disulfide bond2147 ↔ 2173 By similarity
Disulfide bond2259 ↔ 2301 By similarity
Disulfide bond2287 ↔ 2316 By similarity
Disulfide bond2320 ↔ 2348 By similarity
Disulfide bond2433 ↔ 2474 By similarity
Disulfide bond2460 ↔ 2491 By similarity
Disulfide bond2496 ↔ 2538 By similarity
Disulfide bond2522 ↔ 2553 By similarity
Disulfide bond2558 ↔ 2603 By similarity
Disulfide bond2589 ↔ 2618 By similarity
Disulfide bond2623 ↔ 2663 By similarity
Disulfide bond2649 ↔ 2676 By similarity
Disulfide bond2681 ↔ 2721 By similarity
Disulfide bond2707 ↔ 2734 By similarity
Disulfide bond2739 ↔ 2779 By similarity
Disulfide bond2765 ↔ 2792 By similarity
Disulfide bond2797 ↔ 2842 By similarity
Disulfide bond2828 ↔ 2855 By similarity
Disulfide bond2860 ↔ 2900 By similarity
Disulfide bond2886 ↔ 2913 By similarity
Disulfide bond2921 ↔ 2961 By similarity
Disulfide bond2947 ↔ 2974 By similarity
Disulfide bond2979 ↔ 3020 By similarity
Disulfide bond3006 ↔ 3033 By similarity
Disulfide bond3038 ↔ 3080 By similarity
Disulfide bond3064 ↔ 3093 By similarity
Disulfide bond3098 ↔ 3138 By similarity
Disulfide bond3124 ↔ 3151 By similarity
Disulfide bond3156 ↔ 3196 By similarity
Disulfide bond3182 ↔ 3209 By similarity
Disulfide bond3217 ↔ 3258 By similarity
Disulfide bond3244 ↔ 3271 By similarity
Disulfide bond3276 ↔ 3318 By similarity
Disulfide bond3303 ↔ 3331 By similarity

Natural variations

Alternative sequence20131A → K in isoform 4.
VSP_009032
Alternative sequence2014 – 35651552Missing in isoform 4.
VSP_009033
Alternative sequence2082 – 211029AYELQ…VGQSV → GGSGNIGPAFPCLDTPFQAR CQGEERTFN in isoform 3.
VSP_009030
Alternative sequence2111 – 35651455Missing in isoform 3.
VSP_009031
Alternative sequence2620 – 267758Missing in isoform 2.
VSP_009034
Alternative sequence2976 – 3094119Missing in isoform 2.
VSP_009035
Natural variant33121G → W: dbSNP rs34079122.
VAR_056846

Experimental info

Sequence conflict6441D → N in AAG52948. Ref.1
Sequence conflict11281T → N in AAQ88541. Ref.3
Sequence conflict11281T → N in BAB67783. Ref.4
Sequence conflict14621V → I in AK126936. Ref.5
Sequence conflict1843 – 185715IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAK73475. Ref.1
Sequence conflict1843 – 185715IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAG52948. Ref.1
Sequence conflict20621L → F in AK126936. Ref.5

Secondary structure

1 ......... 3565
Helix Strand Turn

Details...

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2003. Version 2.
Checksum: 9D4476AD97C72320

FASTA3,565388,869
        10         20         30         40         50         60 
MTAWRRFQSL LLLLGLLVLC ARLLTAAKGQ NCGGLVQGPN GTIESPGFPH GYPNYANCTW 

        70         80         90        100        110        120 
IIITGERNRI QLSFHTFALE ENFDILSVYD GQPQQGNLKV RLSGFQLPSS IVSTGSILTL 

       130        140        150        160        170        180 
WFTTDFAVSA QGFKALYEVL PSHTCGNPGE ILKGVLHGTR FNIGDKIRYS CLPGYILEGH 

       190        200        210        220        230        240 
AILTCIVSPG NGASWDFPAP FCRAEGACGG TLRGTSSSIS SPHFPSEYEN NADCTWTILA 

       250        260        270        280        290        300 
EPGDTIALVF TDFQLEEGYD FLEISGTEAP SIWLTGMNLP SPVISSKNWL RLHFTSDSNH 

       310        320        330        340        350        360 
RRKGFNAQFQ VKKAIELKSR GVKMLPSKDG SHKNSVLSQG GVALVSHMCL DPGIPENGRR 

       370        380        390        400        410        420 
AGSDFSRVGA NVQFSCEDNY VLQGSKSITC QRVTETLAAW SDHRPICRAR TCGSNLRGPS 

       430        440        450        460        470        480 
GVITSPNYPV QYEDNAHCVW VITTTDPDKV IKLAFEEFEL ERGYDTLTVG DAGKVGDTRS 

       490        500        510        520        530        540 
VLYVLTGSSV PDLIVSMSNQ MWLHLQSDDS IGSPGFKAVY QEIEKGGCGD PGIPAYGKRT 

       550        560        570        580        590        600 
GSSFLHGDTL TFECPAAFEL VGERVITCQQ NNQWSGNKPS CVFSCFFNFT ASSGIILSPN 

       610        620        630        640        650        660 
YPEEYGNNMN CVWLIISEPG SRIHLIFNDF DVEPQFDFLA VKDDGISDIT VLGTFSGNEV 

       670        680        690        700        710        720 
PSQLASSGHI VRLEFQSDHS TTGRGFNITY TTFGQNECHD PGIPINGRRF GDRFLLGSSV 

       730        740        750        760        770        780 
SFHCDDGFVK TQGSESITCI LQDGNVVWSS TVPRCEAPCG GHLTASSGVI LPPGWPGYYK 

       790        800        810        820        830        840 
DSLHCEWIIE AKPGHSIKMT FDRFQTEVNY DTLEVRDGPA SSSPLIGEYH GTQAPQFLIS 

       850        860        870        880        890        900 
TGNFMYLLFT TDNSRSSIGF LIHYESVTLE SDSCLDPGIP VNGHRHGGDF GIRSTVTFSC 

       910        920        930        940        950        960 
DPGYTLSDDE PLVCERNHQW NHALPSCDAL CGGYIQGKSG TVLSPGFPDF YPNSLNCTWT 

       970        980        990       1000       1010       1020 
IEVSHGKGVQ MIFHTFHLES SHDYLLITED GSFSEPVARL TGSVLPHTIK AGLFGNFTAQ 

      1030       1040       1050       1060       1070       1080 
LRFISDFSIS YEGFNITFSE YDLEPCDDPG VPAFSRRIGF HFGVGDSLTF SCFLGYRLEG 

      1090       1100       1110       1120       1130       1140 
ATKLTCLGGG RRVWSAPLPR CVAECGASVK GNEGTLLSPN FPSNYDNTHE CIYKIETEAG 

      1150       1160       1170       1180       1190       1200 
KGIHLRTRSF QLFEGDTLKV YDGKDSSSRP LGTFTKNELL GLILNSTSNH LWLEFNTNGS 

      1210       1220       1230       1240       1250       1260 
DTDQGFQLTY TSFDLVKCED PGIPNYGYRI RDEGHFTDTV VLYSCNPGYA MHGSNTLTCL 

      1270       1280       1290       1300       1310       1320 
SGDRRVWDKP LPSCIAECGG QIHAATSGRI LSPGYPAPYD NNLHCTWIIE ADPGKTISLH 

      1330       1340       1350       1360       1370       1380 
FIVFDTEMAH DILKVWDGPV DSDILLKEWS GSALPEDIHS TFNSLTLQFD SDFFISKSGF 

      1390       1400       1410       1420       1430       1440 
SIQFSTSIAA TCNDPGMPQN GTRYGDSREA GDTVTFQCDP GYQLQGQAKI TCVQLNNRFF 

      1450       1460       1470       1480       1490       1500 
WQPDPPTCIA ACGGNLTGPA GVILSPNYPQ PYPPGKECDW RVKVNPDFVI ALIFKSFNME 

      1510       1520       1530       1540       1550       1560 
PSYDFLHIYE GEDSNSPLIG SYQGSQAPER IESSGNSLFL AFRSDASVGL SGFAIEFKEK 

      1570       1580       1590       1600       1610       1620 
PREACFDPGN IMNGTRVGTD FKLGSTITYQ CDSGYKILDP SSITCVIGAD GKPSWDQVLP 

      1630       1640       1650       1660       1670       1680 
SCNAPCGGQY TGSEGVVLSP NYPHNYTAGQ ICLYSITVPK EFVVFGQFAY FQTALNDLAE 

      1690       1700       1710       1720       1730       1740 
LFDGTHAQAR LLSSLSGSHS GETLPLATSN QILLRFSAKS GASARGFHFV YQAVPRTSDT 

      1750       1760       1770       1780       1790       1800 
QCSSVPEPRY GRRIGSEFSA GSIVRFECNP GYLLQGSTAL HCQSVPNALA QWNDTIPSCV 

      1810       1820       1830       1840       1850       1860 
VPCSGNFTQR RGTILSPGYP EPYGNNLNCI WKIIVTEGSG IQIQVISFAT EQNWDSLEIH 

      1870       1880       1890       1900       1910       1920 
DGGDVTAPRL GSFSGTTVPA LLNSTSNQLY LHFQSDISVA AAGFHLEYKT VGLAACQEPA 

      1930       1940       1950       1960       1970       1980 
LPSNSIKIGD RYMVNDVLSF QCEPGYTLQG RSHISCMPGT VRRWNYPSPL CIATCGGTLS 

      1990       2000       2010       2020       2030       2040 
TLGGVILSPG FPGSYPNNLD CTWRISLPIG YGAHIQFLNF STEANHDFLE IQNGPYHTSP 

      2050       2060       2070       2080       2090       2100 
MIGQFSGTDL PAALLSTTHE TLIHFYSDHS QNRQGFKLAY QAYELQNCPD PPPFQNGYMI 

      2110       2120       2130       2140       2150       2160 
NSDYSVGQSV SFECYPGYIL IGHPVLTCQH GINRNWNYPF PRCDAPCGYN VTSQNGTIYS 

      2170       2180       2190       2200       2210       2220 
PGFPDEYPIL KDCIWLITVP PGHGVYINFT LLQTEAVNDY IAVWDGPDQN SPQLGVFSGN 

      2230       2240       2250       2260       2270       2280 
TALETAYSST NQVLLKFHSD FSNGGFFVLN FHAFQLKKCQ PPPAVPQAEM LTEDDDFEIG 

      2290       2300       2310       2320       2330       2340 
DFVKYQCHPG YTLVGTDILT CKLSSQLQFE GSLPTCEAQC PANEVRTGSS GVILSPGYPG 

      2350       2360       2370       2380       2390       2400 
NYFNSQTCSW SIKVEPNYNI TIFVDTFQSE KQFDALEVFD GSSGQSPLLV VLSGNHTEQS 

      2410       2420       2430       2440       2450       2460 
NFTSRSNQLY LRWSTDHATS KKGFKIRYAA PYCSLTHPLK NGGILNRTAG AVGSKVHYFC 

      2470       2480       2490       2500       2510       2520 
KPGYRMVGHS NATCRRNPLG MYQWDSLTPL CQAVSCGIPE SPGNGSFTGN EFTLDSKVVY 

      2530       2540       2550       2560       2570       2580 
ECHEGFKLES SQQATAVCQE DGLWSNKGKP PMCKPVACPS IEAQLSEHVI WRLVSGSLNE 

      2590       2600       2610       2620       2630       2640 
YGAQVLLSCS PGYYLEGWRL LRCQANGTWN IGDERPSCRV ISCGSLSFPP NGNKIGTLTV 

      2650       2660       2670       2680       2690       2700 
YGATAIFTCN TGYTLVGSHV RECLANGLWS GSETRCLAGH CGSPDPIVNG HISGDGFSYR 

      2710       2720       2730       2740       2750       2760 
DTVVYQCNPG FRLVGTSVRI CLQDHKWSGQ TPVCVPITCG HPGNPAHGFT NGSEFNLNDV 

      2770       2780       2790       2800       2810       2820 
VNFTCNTGYL LQGVSRAQCR SNGQWSSPLP TCRVVNCSDP GFVENAIRHG QQNFPESFEY 

      2830       2840       2850       2860       2870       2880 
GMSILYHCKK GFHLLGSSAL TCMANGLWDR SLPKCLAISC GHPGVPANAV LTGELFTYGA 

      2890       2900       2910       2920       2930       2940 
VVHYSCRGSE SLIGNDTRVC QEDSHWSGAL PHCTGNNPGF CGDPGTPAHG SRLGDDFKTK 

      2950       2960       2970       2980       2990       3000 
SLLRFSCEMG HQLRGSPERT CLLNGSWSGL QPVCEAVSCG NPGTPTNGMI VSSDGILFSS 

      3010       3020       3030       3040       3050       3060 
SVIYACWEGY KTSGLMTRHC TANGTWTGTA PDCTIISCGD PGTLANGIQF GTDFTFNKTV 

      3070       3080       3090       3100       3110       3120 
SYQCNPGYVM EAVTSATIRC TKDGRWNPSK PVCKAVLCPQ PPPVQNGTVE GSDFRWGSSI 

      3130       3140       3150       3160       3170       3180 
SYSCMDGYQL SHSAILSCEG RGVWKGEIPQ CLPVFCGDPG IPAEGRLSGK SFTYKSEVFF 

      3190       3200       3210       3220       3230       3240 
QCKSPFILVG SSRRVCQADG TWSGIQPTCI DPAHNTCPDP GTPHFGIQNS SRGYEVGSTV 

      3250       3260       3270       3280       3290       3300 
FFRCRKGYHI QGSTTRTCLA NLTWSGIQTE CIPHACRQPE TPAHADVRAI DLPTFGYTLV 

      3310       3320       3330       3340       3350       3360 
YTCHPGFFLA GGSEHRTCKA DMKWTGKSPV CKSKGVREVN ETVTKTPVPS DVFFVNSLWK 

      3370       3380       3390       3400       3410       3420 
GYYEYLGKRQ PATLTVDWFN ATSSKVNATF SEASPVELKL TGIYKKEEAH LLLKAFQIKG 

      3430       3440       3450       3460       3470       3480 
QADIFVSKFE NDNWGLDGYV SSGLERGGFT FQGDIHGKDF GKFKLERQDP LNPDQDSSSH 

      3490       3500       3510       3520       3530       3540 
YHGTSSGSVA AAILVPFFAL ILSGFAFYLY KHRTRPKVQY NGYAGHENSN GQASFENPMY 

      3550       3560 
DTNLKPTEAK AVRFDTTLNT VCTVV

« Hide

Isoform 2 (Short).

Checksum: 3866EBFB2E86DE84
Show »

FASTA3,388370,317
Isoform 3.

Checksum: 406093FAF513EAD2
Show »

FASTA2,110230,143
Isoform 4.

Checksum: D09488A7A40D828C
Show »

FASTA2,013219,401

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References

« Hide 'large scale' references
[1]"Transcript map of the 8p23 putative tumor suppressor region."
Sun P.C., Uppaluri R., Schmidt A.P., Pashia M.E., Quant E.C., Sunwoo J.B., Gollin S.M., Scholnick S.B.
Genomics 75:17-25(2001) [PubMed: 11472063] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"Scan of human genome reveals no new loci under ancient balancing selection."
Bubb K.L., Bovee D., Buckley D., Haugen E., Kibukawa M., Paddock M., Palmieri A., Subramanian S., Zhou Y., Kaul R., Green P., Olson M.V.
Genetics 173:2165-2177(2006) [PubMed: 16751668] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 140-203.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract]
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: 11572484] [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. expand/collapse author list , 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: 14702039] [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: 12696061] [Abstract]
Cited for: DISEASE.
[7]"The role of CSMD1 in head and neck carcinogenesis."
Scholnick S.B., Richter T.M.
Genes Chromosomes Cancer 38:281-283(2003) [PubMed: 14506705] [Abstract]
Cited for: DISEASE.
[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.
+Additional computationally mapped references.

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Cross-references

Sequence databases

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.
IPIIPI00394718.
IPI00394719.
IPI00394720.
IPI00394721.
RefSeqNP_150094.4.
UniGeneHs.571466

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2EHFNMR-A522-581[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ96PZ7. 2 interactions.

Proteomic databases

PRIDEQ96PZ7.

Genome annotation databases

EnsemblENSG00000183117. Homo sapiens. [Contig view]
GeneID64478.
KEGGhsa:64478.

Organism-specific databases

GeneCardsGC08M002786.
H-InvDBHIX0007277.
HGNCHGNC:14026. CSMD1.
MIM608397. gene.
PharmGKBPA26947.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ96PZ7.
HOVERGENQ96PZ7.

Gene expression databases

ArrayExpressQ96PZ7.
BgeeQ96PZ7.
CleanExHS_CSMD1.
GermOnlineENSG00000183117. Homo sapiens.

Family and domain databases

InterProIPR016060. Complement_control_module.
IPR000859. CUB.
IPR000436. Sushi_SCR_CCP.
[Graphical view]
Gene3DG3DSA:2.10.70.10. Complement_control_module. 24 hits.
G3DSA:2.60.120.290. CUB. 14 hits.
PfamPF00431. CUB. 14 hits.
PF00084. Sushi. 28 hits.
[Graphical view]
SMARTSM00032. CCP. 28 hits.
SM00042. CUB. 14 hits.
[Graphical view]
PROSITEPS01180. CUB. 14 hits.
PS50923. SUSHI. 28 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio66467.
SOURCESearch...

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Entry information

Entry nameCSMD1_HUMAN
AccessionPrimary (citable) accession number: Q96PZ7
Secondary accession number(s): Q0H0J5, Q96QU9, Q96RM4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: November 28, 2003
Last modified: June 16, 2009
This is version 70 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents