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Protein

CUB and sushi domain-containing protein 1

Gene

CSMD1

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

Functioni

Potential suppressor of squamous cell carcinomas.

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.

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: Chromosome 8

Organism-specific databases

HGNCiHGNC:14026 CSMD1
MIMi608397 gene
neXtProtiNX_Q96PZ7

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 3487ExtracellularSequence analysisAdd BLAST3461
Transmembranei3488 – 3508HelicalSequence analysisAdd BLAST21
Topological domaini3509 – 3564CytoplasmicSequence analysisAdd BLAST56

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi64478
OpenTargetsiENSG00000183117
PharmGKBiPA26947

Polymorphism and mutation databases

BioMutaiCSMD1
DMDMi38604975

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002102527 – 3564CUB and sushi domain-containing protein 1Add BLAST3538

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32 ↔ 58PROSITE-ProRule annotation
Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi57N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi145 ↔ 185PROSITE-ProRule annotation
Disulfide bondi171 ↔ 202PROSITE-ProRule annotation
Disulfide bondi208 ↔ 234PROSITE-ProRule annotation
Disulfide bondi349 ↔ 389PROSITE-ProRule annotation
Disulfide bondi375 ↔ 406PROSITE-ProRule annotation
Disulfide bondi411 ↔ 437PROSITE-ProRule annotation
Disulfide bondi527 ↔ 567PROSITE-ProRule annotation
Disulfide bondi553 ↔ 580PROSITE-ProRule annotation
Disulfide bondi584 ↔ 610PROSITE-ProRule annotation
Glycosylationi587N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi686N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi697 ↔ 738PROSITE-ProRule annotation
Disulfide bondi723 ↔ 754PROSITE-ProRule annotation
Disulfide bondi758 ↔ 784PROSITE-ProRule annotation
Disulfide bondi873 ↔ 913PROSITE-ProRule annotation
Disulfide bondi899 ↔ 926PROSITE-ProRule annotation
Disulfide bondi930 ↔ 956PROSITE-ProRule annotation
Glycosylationi955N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1015N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1034N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1045 ↔ 1085PROSITE-ProRule annotation
Disulfide bondi1071 ↔ 1100PROSITE-ProRule annotation
Disulfide bondi1104 ↔ 1130PROSITE-ProRule annotation
Glycosylationi1184N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1197N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1217 ↔ 1258PROSITE-ProRule annotation
Disulfide bondi1244 ↔ 1273PROSITE-ProRule annotation
Disulfide bondi1277 ↔ 1304PROSITE-ProRule annotation
Disulfide bondi1391 ↔ 1431PROSITE-ProRule annotation
Glycosylationi1399N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1417 ↔ 1447PROSITE-ProRule annotation
Disulfide bondi1451 ↔ 1477PROSITE-ProRule annotation
Glycosylationi1454N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1564 ↔ 1604PROSITE-ProRule annotation
Glycosylationi1572N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1590 ↔ 1621PROSITE-ProRule annotation
Disulfide bondi1625 ↔ 1651PROSITE-ProRule annotation
Glycosylationi1644N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1741 ↔ 1781PROSITE-ProRule annotation
Disulfide bondi1767 ↔ 1798PROSITE-ProRule annotation
Glycosylationi1792N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1802 ↔ 1828PROSITE-ProRule annotation
Glycosylationi1805N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1882N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1915 ↔ 1955PROSITE-ProRule annotation
Disulfide bondi1941 ↔ 1970PROSITE-ProRule annotation
Disulfide bondi1974 ↔ 2000PROSITE-ProRule annotation
Glycosylationi2018N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2087 ↔ 2127PROSITE-ProRule annotation
Disulfide bondi2113 ↔ 2142PROSITE-ProRule annotation
Disulfide bondi2146 ↔ 2172PROSITE-ProRule annotation
Glycosylationi2149N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2154N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2187N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2258 ↔ 2300PROSITE-ProRule annotation
Disulfide bondi2286 ↔ 2315PROSITE-ProRule annotation
Disulfide bondi2319 ↔ 2347PROSITE-ProRule annotation
Glycosylationi2358N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2394N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2400N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2432 ↔ 2473PROSITE-ProRule annotation
Glycosylationi2445N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2459 ↔ 2490PROSITE-ProRule annotation
Glycosylationi2470N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2495 ↔ 2537PROSITE-ProRule annotation
Glycosylationi2503N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2521 ↔ 2552PROSITE-ProRule annotation
Disulfide bondi2557 ↔ 2602PROSITE-ProRule annotation
Disulfide bondi2588 ↔ 2617PROSITE-ProRule annotation
Glycosylationi2605N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2622 ↔ 2662PROSITE-ProRule annotation
Disulfide bondi2648 ↔ 2675PROSITE-ProRule annotation
Disulfide bondi2680 ↔ 2720PROSITE-ProRule annotation
Disulfide bondi2706 ↔ 2733PROSITE-ProRule annotation
Disulfide bondi2738 ↔ 2778PROSITE-ProRule annotation
Glycosylationi2750N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2761N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2764 ↔ 2791PROSITE-ProRule annotation
Glycosylationi2795N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2796 ↔ 2841PROSITE-ProRule annotation
Disulfide bondi2827 ↔ 2854PROSITE-ProRule annotation
Disulfide bondi2859 ↔ 2899PROSITE-ProRule annotation
Disulfide bondi2885 ↔ 2912PROSITE-ProRule annotation
Glycosylationi2894N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2920 ↔ 2960PROSITE-ProRule annotation
Disulfide bondi2946 ↔ 2973PROSITE-ProRule annotation
Glycosylationi2963N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2978 ↔ 3019PROSITE-ProRule annotation
Disulfide bondi3005 ↔ 3032PROSITE-ProRule annotation
Glycosylationi3022N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3037 ↔ 3079PROSITE-ProRule annotation
Glycosylationi3056N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3063 ↔ 3092PROSITE-ProRule annotation
Disulfide bondi3097 ↔ 3137PROSITE-ProRule annotation
Glycosylationi3105N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3123 ↔ 3150PROSITE-ProRule annotation
Disulfide bondi3155 ↔ 3195PROSITE-ProRule annotation
Disulfide bondi3181 ↔ 3208PROSITE-ProRule annotation
Disulfide bondi3216 ↔ 3257PROSITE-ProRule annotation
Glycosylationi3228N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3243 ↔ 3270PROSITE-ProRule annotation
Glycosylationi3260N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3275 ↔ 3317PROSITE-ProRule annotation
Disulfide bondi3302 ↔ 3330PROSITE-ProRule annotation
Glycosylationi3339N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3386N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ96PZ7
PaxDbiQ96PZ7
PeptideAtlasiQ96PZ7
PRIDEiQ96PZ7

PTM databases

iPTMnetiQ96PZ7
PhosphoSitePlusiQ96PZ7

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

Organism-specific databases

HPAiHPA074707

Interactioni

Protein-protein interaction databases

BioGridi122185, 2 interactors
IntActiQ96PZ7, 2 interactors
STRINGi9606.ENSP00000441462

Structurei

Secondary structure

13564
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi534 – 539Combined sources6
Beta strandi548 – 552Combined sources5
Beta strandi563 – 567Combined sources5
Beta strandi569 – 575Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EHFNMR-A521-580[»]
ProteinModelPortaliQ96PZ7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96PZ7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 140CUB 1PROSITE-ProRule annotationAdd BLAST109
Domaini143 – 204Sushi 1PROSITE-ProRule annotationAdd BLAST62
Domaini208 – 312CUB 2PROSITE-ProRule annotationAdd BLAST105
Domaini347 – 408Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini411 – 522CUB 3PROSITE-ProRule annotationAdd BLAST112
Domaini525 – 582Sushi 3PROSITE-ProRule annotationAdd BLAST58
Domaini584 – 692CUB 4PROSITE-ProRule annotationAdd BLAST109
Domaini695 – 756Sushi 4PROSITE-ProRule annotationAdd BLAST62
Domaini758 – 866CUB 5PROSITE-ProRule annotationAdd BLAST109
Domaini871 – 928Sushi 5PROSITE-ProRule annotationAdd BLAST58
Domaini930 – 1040CUB 6PROSITE-ProRule annotationAdd BLAST111
Domaini1043 – 1102Sushi 6PROSITE-ProRule annotationAdd BLAST60
Domaini1104 – 1212CUB 7PROSITE-ProRule annotationAdd BLAST109
Domaini1215 – 1275Sushi 7PROSITE-ProRule annotationAdd BLAST61
Domaini1277 – 1386CUB 8PROSITE-ProRule annotationAdd BLAST110
Domaini1389 – 1449Sushi 8PROSITE-ProRule annotationAdd BLAST61
Domaini1451 – 1559CUB 9PROSITE-ProRule annotationAdd BLAST109
Domaini1562 – 1623Sushi 9PROSITE-ProRule annotationAdd BLAST62
Domaini1625 – 1733CUB 10PROSITE-ProRule annotationAdd BLAST109
Domaini1739 – 1800Sushi 10PROSITE-ProRule annotationAdd BLAST62
Domaini1802 – 1910CUB 11PROSITE-ProRule annotationAdd BLAST109
Domaini1913 – 1972Sushi 11PROSITE-ProRule annotationAdd BLAST60
Domaini1974 – 2082CUB 12PROSITE-ProRule annotationAdd BLAST109
Domaini2085 – 2144Sushi 12PROSITE-ProRule annotationAdd BLAST60
Domaini2146 – 2257CUB 13PROSITE-ProRule annotationAdd BLAST112
Domaini2256 – 2317Sushi 13PROSITE-ProRule annotationAdd BLAST62
Domaini2319 – 2430CUB 14PROSITE-ProRule annotationAdd BLAST112
Domaini2430 – 2492Sushi 14PROSITE-ProRule annotationAdd BLAST63
Domaini2493 – 2554Sushi 15PROSITE-ProRule annotationAdd BLAST62
Domaini2555 – 2619Sushi 16PROSITE-ProRule annotationAdd BLAST65
Domaini2620 – 2677Sushi 17PROSITE-ProRule annotationAdd BLAST58
Domaini2678 – 2735Sushi 18PROSITE-ProRule annotationAdd BLAST58
Domaini2736 – 2793Sushi 19PROSITE-ProRule annotationAdd BLAST58
Domaini2794 – 2856Sushi 20PROSITE-ProRule annotationAdd BLAST63
Domaini2857 – 2914Sushi 21PROSITE-ProRule annotationAdd BLAST58
Domaini2918 – 2975Sushi 22PROSITE-ProRule annotationAdd BLAST58
Domaini2976 – 3034Sushi 23PROSITE-ProRule annotationAdd BLAST59
Domaini3035 – 3094Sushi 24PROSITE-ProRule annotationAdd BLAST60
Domaini3095 – 3152Sushi 25PROSITE-ProRule annotationAdd BLAST58
Domaini3153 – 3210Sushi 26PROSITE-ProRule annotationAdd BLAST58
Domaini3214 – 3272Sushi 27PROSITE-ProRule annotationAdd BLAST59
Domaini3273 – 3332Sushi 28PROSITE-ProRule annotationAdd BLAST60

Sequence similaritiesi

Belongs to the CSMD family.Curated

Keywords - Domaini

Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4297 Eukaryota
ENOG410XPJ1 LUCA
GeneTreeiENSGT00760000118803
HOGENOMiHOG000112015
HOVERGENiHBG051134
InParanoidiQ96PZ7
KOiK17495
PhylomeDBiQ96PZ7

Family and domain databases

CDDicd00033 CCP, 28 hits
cd00041 CUB, 14 hits
Gene3Di2.60.120.290, 14 hits
InterProiView protein in InterPro
IPR000859 CUB_dom
IPR035914 Sperma_CUB_dom_sf
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00431 CUB, 14 hits
PF00084 Sushi, 28 hits
SMARTiView protein in SMART
SM00032 CCP, 28 hits
SM00042 CUB, 14 hits
SUPFAMiSSF49854 SSF49854, 14 hits
SSF57535 SSF57535, 28 hits
PROSITEiView protein in PROSITE
PS01180 CUB, 14 hits
PS50923 SUSHI, 28 hits

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 EDFDILSVYD 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 GVALVSDMCP
360 370 380 390 400
DPGIPENGRR AGSDFRVGAN VQFSCEDNYV LQGSKSITCQ RVTETLAAWS
410 420 430 440 450
DHRPICRART CGSNLRGPSG VITSPNYPVQ YEDNAHCVWV ITTTDPDKVI
460 470 480 490 500
KLAFEEFELE RGYDTLTVGD AGKVGDTRSV LYVLTGSSVP DLIVSMSNQM
510 520 530 540 550
WLHLQSDDSI GSPGFKAVYQ EIEKGGCGDP GIPAYGKRTG SSFLHGDTLT
560 570 580 590 600
FECPAAFELV GERVITCQQN NQWSGNKPSC VFSCFFNFTA SSGIILSPNY
610 620 630 640 650
PEEYGNNMNC VWLIISEPGS RIHLIFNDFD VEPQFDFLAV KDDGISDITV
660 670 680 690 700
LGTFSGNEVP SQLASSGHIV RLEFQSDHST TGRGFNITYT TFGQNECHDP
710 720 730 740 750
GIPINGRRFG DRFLLGSSVS FHCDDGFVKT QGSESITCIL QDGNVVWSST
760 770 780 790 800
VPRCEAPCGG HLTASSGVIL PPGWPGYYKD SLHCEWIIEA KPGHSIKITF
810 820 830 840 850
DRFQTEVNYD TLEVRDGPAS SSPLIGEYHG TQAPQFLIST GNFMYLLFTT
860 870 880 890 900
DNSRSSIGFL IHYESVTLES DSCLDPGIPV NGHRHGGDFG IRSTVTFSCD
910 920 930 940 950
PGYTLSDDEP LVCERNHQWN HALPSCDALC GGYIQGKSGT VLSPGFPDFY
960 970 980 990 1000
PNSLNCTWTI EVSHGKGVQM IFHTFHLESS HDYLLITEDG SFSEPVARLT
1010 1020 1030 1040 1050
GSVLPHTIKA GLFGNFTAQL RFISDFSISY EGFNITFSEY DLEPCDDPGV
1060 1070 1080 1090 1100
PAFSRRIGFH FGVGDSLTFS CFLGYRLEGA TKLTCLGGGR RVWSAPLPRC
1110 1120 1130 1140 1150
VAECGASVKG NEGTLLSPNF PSNYDNNHEC IYKIETEAGK GIHLRTRSFQ
1160 1170 1180 1190 1200
LFEGDTLKVY DGKDSSSRPL GTFTKNELLG LILNSTSNHL WLEFNTNGSD
1210 1220 1230 1240 1250
TDQGFQLTYT SFDLVKCEDP GIPNYGYRIR DEGHFTDTVV LYSCNPGYAM
1260 1270 1280 1290 1300
HGSNTLTCLS GDRRVWDKPL PSCIAECGGQ IHAATSGRIL SPGYPAPYDN
1310 1320 1330 1340 1350
NLHCTWIIEA DPGKTISLHF IVFDTEMAHD ILKVWDGPVD SDILLKEWSG
1360 1370 1380 1390 1400
SALPEDIHST FNSLTLQFDS DFFISKSGFS IQFSTSIAAT CNDPGMPQNG
1410 1420 1430 1440 1450
TRYGDSREAG DTVTFQCDPG YQLQGQAKIT CVQLNNRFFW QPDPPTCIAA
1460 1470 1480 1490 1500
CGGNLTGPAG VILSPNYPQP YPPGKECDWR VKVNPDFVIA LIFKSFNMEP
1510 1520 1530 1540 1550
SYDFLHIYEG EDSNSPLIGS YQGSQAPERI ESSGNSLFLA FRSDASVGLS
1560 1570 1580 1590 1600
GFAIEFKEKP REACFDPGNI MNGTRVGTDF KLGSTITYQC DSGYKILDPS
1610 1620 1630 1640 1650
SITCVIGADG KPSWDQVLPS CNAPCGGQYT GSEGVVLSPN YPHNYTAGQI
1660 1670 1680 1690 1700
CLYSITVPKE FVVFGQFAYF QTALNDLAEL FDGTHAQARL LSSLSGSHSG
1710 1720 1730 1740 1750
ETLPLATSNQ ILLRFSAKSG ASARGFHFVY QAVPRTSDTQ CSSVPEPRYG
1760 1770 1780 1790 1800
RRIGSEFSAG SIVRFECNPG YLLQGSTALH CQSVPNALAQ WNDTIPSCVV
1810 1820 1830 1840 1850
PCSGNFTQRR GTILSPGYPE PYGNNLNCIW KIIVTEGSGI QIQVISFATE
1860 1870 1880 1890 1900
QNWDSLEIHD GGDVTAPRLG SFSGTTVPAL LNSTSNQLYL HFQSDISVAA
1910 1920 1930 1940 1950
AGFHLEYKTV GLAACQEPAL PSNSIKIGDR YMVNDVLSFQ CEPGYTLQGR
1960 1970 1980 1990 2000
SHISCMPGTV RRWNYPSPLC IATCGGTLST LGGVILSPGF PGSYPNNLDC
2010 2020 2030 2040 2050
TWRISLPIGY GAHIQFLNFS TEANHDFLEI QNGPYHTSPM IGQFSGTDLP
2060 2070 2080 2090 2100
AALLSTTHET LIHFYSDHSQ NRQGFKLAYQ AYELQNCPDP PPFQNGYMIN
2110 2120 2130 2140 2150
SDYSVGQSVS FECYPGYILI GHPVLTCQHG INRNWNYPFP RCDAPCGYNV
2160 2170 2180 2190 2200
TSQNGTIYSP GFPDEYPILK DCIWLITVPP GHGVYINFTL LQTEAVNDYI
2210 2220 2230 2240 2250
AVWDGPDQNS PQLGVFSGNT ALETAYSSTN QVLLKFHSDF SNGGFFVLNF
2260 2270 2280 2290 2300
HAFQLKKCQP PPAVPQAEML TEDDDFEIGD FVKYQCHPGY TLVGTDILTC
2310 2320 2330 2340 2350
KLSSQLQFEG SLPTCEAQCP ANEVRTGSSG VILSPGYPGN YFNSQTCSWS
2360 2370 2380 2390 2400
IKVEPNYNIT IFVDTFQSEK QFDALEVFDG SSGQSPLLVV LSGNHTEQSN
2410 2420 2430 2440 2450
FTSRSNQLYL RWSTDHATSK KGFKIRYAAP YCSLTHPLKN GGILNRTAGA
2460 2470 2480 2490 2500
VGSKVHYFCK PGYRMVGHSN ATCRRNPLGM YQWDSLTPLC QAVSCGIPES
2510 2520 2530 2540 2550
PGNGSFTGNE FTLDSKVVYE CHEGFKLESS QQATAVCQED GLWSNKGKPP
2560 2570 2580 2590 2600
TCKPVACPSI EAQLSEHVIW RLVSGSLNEY GAQVLLSCSP GYYLEGWRLL
2610 2620 2630 2640 2650
RCQANGTWNI GDERPSCRVI SCGSLSFPPN GNKIGTLTVY GATAIFTCNT
2660 2670 2680 2690 2700
GYTLVGSHVR ECLANGLWSG SETRCLAGHC GSPDPIVNGH ISGDGFSYRD
2710 2720 2730 2740 2750
TVVYQCNPGF RLVGTSVRIC LQDHKWSGQT PVCVPITCGH PGNPAHGFTN
2760 2770 2780 2790 2800
GSEFNLNDVV NFTCNTGYLL QGVSRAQCRS NGQWSSPLPT CRVVNCSDPG
2810 2820 2830 2840 2850
FVENAIRHGQ QNFPESFEYG MSILYHCKKG FYLLGSSALT CMANGLWDRS
2860 2870 2880 2890 2900
LPKCLAISCG HPGVPANAVL TGELFTYGAV VHYSCRGSES LIGNDTRVCQ
2910 2920 2930 2940 2950
EDSHWSGALP HCTGNNPGFC GDPGTPAHGS RLGDDFKTKS LLRFSCEMGH
2960 2970 2980 2990 3000
QLRGSPERTC LLNGSWSGLQ PVCEAVSCGN PGTPTNGMIV SSDGILFSSS
3010 3020 3030 3040 3050
VIYACWEGYK TSGLMTRHCT ANGTWTGTAP DCTIISCGDP GTLANGIQFG
3060 3070 3080 3090 3100
TDFTFNKTVS YQCNPGYVME AVTSATIRCT KDGRWNPSKP VCKAVLCPQP
3110 3120 3130 3140 3150
PPVQNGTVEG SDFRWGSSIS YSCMDGYQLS HSAILSCEGR GVWKGEIPQC
3160 3170 3180 3190 3200
LPVFCGDPGI PAEGRLSGKS FTYKSEVFFQ CKSPFILVGS SRRVCQADGT
3210 3220 3230 3240 3250
WSGIQPTCID PAHNTCPDPG TPHFGIQNSS RGYEVGSTVF FRCRKGYHIQ
3260 3270 3280 3290 3300
GSTTRTCLAN LTWSGIQTEC IPHACRQPET PAHADVRAID LPTFGYTLVY
3310 3320 3330 3340 3350
TCHPGFFLAG GSEHRTCKAD MKWTGKSPVC KSKGVREVNE TVTKTPVPSD
3360 3370 3380 3390 3400
VFFVNSLWKG YYEYLGKRQP ATLTVDWFNA TSSKVNATFS EASPVELKLT
3410 3420 3430 3440 3450
GIYKKEEAHL LLKAFQIKGQ ADIFVSKFEN DNWGLDGYVS SGLERGGFTF
3460 3470 3480 3490 3500
QGDIHGKDFG KFKLERQDPL NPDQDSSSHY HGTSSGSVAA AILVPFFALI
3510 3520 3530 3540 3550
LSGFAFYLYK HRTRPKVQYN GYAGHENSNG QASFENPMYD TNLKPTEAKA
3560
VRFDTTLNTV CTVV
Length:3,564
Mass (Da):388,736
Last modified:March 28, 2018 - v3
Checksum:i949BAAF5DD559A0C
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:
     2619-2676: Missing.
     2975-3093: Missing.

Show »
Length:3,387
Mass (Da):370,184
Checksum:iE6EE874843E007FE
GO
Isoform 3 (identifier: Q96PZ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2081-2109: AYELQNCPDPPPFQNGYMINSDYSVGQSV → GGSGNIGPAFPCLDTPFQARCQGEERTFN
     2110-3564: Missing.

Note: No experimental confirmation available.
Show »
Length:2,109
Mass (Da):230,014
Checksum:i2262BE081DA9699B
GO
Isoform 4 (identifier: Q96PZ7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2012-2012: A → K
     2013-3564: Missing.

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Length:2,012
Mass (Da):219,272
Checksum:i8D64EF6A39655337
GO

Sequence cautioni

The sequence AAQ88541 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti82D → N in AAK73475 (PubMed:11472063).Curated1
Sequence conflicti82D → N in AAG52948 (PubMed:11472063).Curated1
Sequence conflicti347 – 350DMCP → HMCL in AAK73475 (PubMed:11472063).Curated4
Sequence conflicti347 – 350DMCP → HMCL in AAG52948 (PubMed:11472063).Curated4
Sequence conflicti365F → FS in AAK73475 (PubMed:11472063).Curated1
Sequence conflicti365F → FS in AAG52948 (PubMed:11472063).Curated1
Sequence conflicti643D → N in AAG52948 (PubMed:11472063).Curated1
Sequence conflicti798I → M in AAK73475 (PubMed:11472063).Curated1
Sequence conflicti798I → M in AAG52948 (PubMed:11472063).Curated1
Sequence conflicti1461V → I in AK126936 (PubMed:14702039).Curated1
Sequence conflicti1842 – 1856IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAK73475 (PubMed:11472063).CuratedAdd BLAST15
Sequence conflicti1842 – 1856IQVIS…NWDSL → DPSDQFCHGAELGLPF in AAG52948 (PubMed:11472063).CuratedAdd BLAST15
Sequence conflicti2061L → F in AK126936 (PubMed:14702039).Curated1
Sequence conflicti2551T → M in AAK73475 (PubMed:11472063).Curated1
Sequence conflicti2551T → M in AAG52948 (PubMed:11472063).Curated1
Sequence conflicti2832Y → H in AAK73475 (PubMed:11472063).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0596342040M → I. Corresponds to variant dbSNP:rs6995799Ensembl.1
Natural variantiVAR_0764442260P → A1 Publication1
Natural variantiVAR_0568463311G → W. Corresponds to variant dbSNP:rs34079122Ensembl.1
Natural variantiVAR_0596353369Q → H. Corresponds to variant dbSNP:rs34337712Ensembl.1
Natural variantiVAR_0596363478S → N. Corresponds to variant dbSNP:rs11984691Ensembl.1
Natural variantiVAR_0764453539Y → C1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0090322012A → K in isoform 4. 2 Publications1
Alternative sequenceiVSP_0090332013 – 3564Missing in isoform 4. 2 PublicationsAdd BLAST1552
Alternative sequenceiVSP_0090302081 – 2109AYELQ…VGQSV → GGSGNIGPAFPCLDTPFQAR CQGEERTFN in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0090312110 – 3564Missing in isoform 3. 1 PublicationAdd BLAST1455
Alternative sequenceiVSP_0090342619 – 2676Missing in isoform 2. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_0090352975 – 3093Missing in isoform 2. 1 PublicationAdd BLAST119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF333704 mRNA Translation: AAK73475.2
AC021523 Genomic DNA No translation available.
AC023296 Genomic DNA No translation available.
AC087692 Genomic DNA No translation available.
AC026991 Genomic DNA No translation available.
AC135324 Genomic DNA No translation available.
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
KF458667 Genomic DNA No translation available.
KF458665 Genomic DNA No translation available.
KF458666 Genomic DNA No translation available.
AY358174 mRNA Translation: AAQ88541.1 Different initiation.
AB067477 mRNA Translation: BAB67783.1
AK126936 mRNA No translation available.
CCDSiCCDS55189.1 [Q96PZ7-1]
RefSeqiNP_150094.5, NM_033225.5 [Q96PZ7-1]
UniGeneiHs.571466

Genome annotation databases

EnsembliENST00000635120; ENSP00000489225; ENSG00000183117 [Q96PZ7-1]
GeneIDi64478
KEGGihsa:64478

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCSMD1_HUMAN
AccessioniPrimary (citable) accession number: Q96PZ7
Secondary accession number(s): A0A0U1RQY1
, Q0H0J5, Q96QU9, Q96RM4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: March 28, 2018
Last modified: May 23, 2018
This is version 139 of the entry and version 3 of the sequence. See 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

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

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