Gene Gene information from NCBI Gene database.
Entrez ID 64478
Gene name CUB and Sushi multiple domains 1
Gene symbol CSMD1
Synonyms (NCBI Gene)
PPP1R24
Chromosome 8
Chromosome location 8p23.2
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT503857 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT541802 hsa-miR-338-5p HITS-CLIP 21572407
MIRT503854 hsa-miR-4704-5p HITS-CLIP 21572407
MIRT503853 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT503852 hsa-miR-567 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0001964 Process Startle response IEA
GO:0005515 Function Protein binding IPI 22538441
GO:0007613 Process Memory IEA
GO:0008584 Process Male gonad development IEA
GO:0008585 Process Female gonad development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608397 14026 ENSG00000183117
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PZ7
Protein name CUB and sushi domain-containing protein 1 (CUB and sushi multiple domains protein 1)
Protein function Potential suppressor of squamous cell carcinomas.
PDB 2EHF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 32 137 CUB domain Domain
PF00084 Sushi 145 202 Sushi repeat (SCR repeat) Domain
PF00431 CUB 208 309 CUB domain Domain
PF00084 Sushi 349 406 Sushi repeat (SCR repeat) Domain
PF00431 CUB 411 519 CUB domain Domain
PF00084 Sushi 527 580 Sushi repeat (SCR repeat) Domain
PF00431 CUB 584 689 CUB domain Domain
PF00084 Sushi 697 754 Sushi repeat (SCR repeat) Domain
PF00431 CUB 758 863 CUB domain Domain
PF00084 Sushi 873 926 Sushi repeat (SCR repeat) Domain
PF00431 CUB 930 1037 CUB domain Domain
PF00084 Sushi 1045 1100 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1104 1209 CUB domain Domain
PF00084 Sushi 1217 1273 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1277 1383 CUB domain Domain
PF00084 Sushi 1391 1447 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1451 1556 CUB domain Domain
PF00084 Sushi 1564 1621 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1625 1730 CUB domain Domain
PF00084 Sushi 1741 1798 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1802 1907 CUB domain Domain
PF00084 Sushi 1915 1970 Sushi repeat (SCR repeat) Domain
PF00431 CUB 1974 2079 CUB domain Domain
PF00084 Sushi 2087 2142 Sushi repeat (SCR repeat) Domain
PF00431 CUB 2146 2249 CUB domain Domain
PF00084 Sushi 2258 2315 Sushi repeat (SCR repeat) Domain
PF00431 CUB 2319 2427 CUB domain Domain
PF00084 Sushi 2432 2490 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2495 2552 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2571 2617 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2622 2675 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2680 2733 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2738 2791 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2796 2854 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2859 2912 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2920 2973 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 2978 3032 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 3037 3092 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 3097 3150 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 3155 3208 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 3216 3270 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 3275 3330 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. {ECO:0000269|PubMed:11572484}.
Sequence
MTAWRRFQSLLLLLGLLVLCARLLTAAKGQNCGGLVQGPNGTIESPGFPHGYPNYANCTW
IIITGERNRIQLSFHTFALEEDFDILSVYDGQPQQGNLKVRLSGFQLPSSIVSTGSILTL
WFTTDFAVSAQGFKALY
EVLPSHTCGNPGEILKGVLHGTRFNIGDKIRYSCLPGYILEGH
AILTCIVSPGNGASWDFPAPFC
RAEGACGGTLRGTSSSISSPHFPSEYENNADCTWTILA
EPGDTIALVFTDFQLEEGYDFLEISGTEAPSIWLTGMNLPSPVISSKNWLRLHFTSDSNH
RRKGFNAQF
QVKKAIELKSRGVKMLPSKDGSHKNSVLSQGGVALVSDMCPDPGIPENGRR
AGSDFRVGANVQFSCEDNYVLQGSKSITCQRVTETLAAWSDHRPIC
RARTCGSNLRGPSG
VITSPNYPVQYEDNAHCVWVITTTDPDKVIKLAFEEFELERGYDTLTVGDAGKVGDTRSV
LYVLTGSSVPDLIVSMSNQMWLHLQSDDSIGSPGFKAVY
QEIEKGGCGDPGIPAYGKRTG
SSFLHGDTLTFECPAAFELVGERVITCQQNNQWSGNKPSC
VFSCFFNFTASSGIILSPNY
PEEYGNNMNCVWLIISEPGSRIHLIFNDFDVEPQFDFLAVKDDGISDITVLGTFSGNEVP
SQLASSGHIVRLEFQSDHSTTGRGFNITY
TTFGQNECHDPGIPINGRRFGDRFLLGSSVS
FHCDDGFVKTQGSESITCILQDGNVVWSSTVPRC
EAPCGGHLTASSGVILPPGWPGYYKD
SLHCEWIIEAKPGHSIKITFDRFQTEVNYDTLEVRDGPASSSPLIGEYHGTQAPQFLIST
GNFMYLLFTTDNSRSSIGFLIHY
ESVTLESDSCLDPGIPVNGHRHGGDFGIRSTVTFSCD
PGYTLSDDEPLVCERNHQWNHALPSC
DALCGGYIQGKSGTVLSPGFPDFYPNSLNCTWTI
EVSHGKGVQMIFHTFHLESSHDYLLITEDGSFSEPVARLTGSVLPHTIKAGLFGNFTAQL
RFISDFSISYEGFNITF
SEYDLEPCDDPGVPAFSRRIGFHFGVGDSLTFSCFLGYRLEGA
TKLTCLGGGRRVWSAPLPRC
VAECGASVKGNEGTLLSPNFPSNYDNNHECIYKIETEAGK
GIHLRTRSFQLFEGDTLKVYDGKDSSSRPLGTFTKNELLGLILNSTSNHLWLEFNTNGSD
TDQGFQLTY
TSFDLVKCEDPGIPNYGYRIRDEGHFTDTVVLYSCNPGYAMHGSNTLTCLS
GDRRVWDKPLPSC
IAECGGQIHAATSGRILSPGYPAPYDNNLHCTWIIEADPGKTISLHF
IVFDTEMAHDILKVWDGPVDSDILLKEWSGSALPEDIHSTFNSLTLQFDSDFFISKSGFS
IQF
STSIAATCNDPGMPQNGTRYGDSREAGDTVTFQCDPGYQLQGQAKITCVQLNNRFFW
QPDPPTC
IAACGGNLTGPAGVILSPNYPQPYPPGKECDWRVKVNPDFVIALIFKSFNMEP
SYDFLHIYEGEDSNSPLIGSYQGSQAPERIESSGNSLFLAFRSDASVGLSGFAIEF
KEKP
REACFDPGNIMNGTRVGTDFKLGSTITYQCDSGYKILDPSSITCVIGADGKPSWDQVLPS
C
NAPCGGQYTGSEGVVLSPNYPHNYTAGQICLYSITVPKEFVVFGQFAYFQTALNDLAEL
FDGTHAQARLLSSLSGSHSGETLPLATSNQILLRFSAKSGASARGFHFVY
QAVPRTSDTQ
CSSVPEPRYGRRIGSEFSAGSIVRFECNPGYLLQGSTALHCQSVPNALAQWNDTIPSCVV
PCSGNFTQRRGTILSPGYPEPYGNNLNCIWKIIVTEGSGIQIQVISFATEQNWDSLEIHD
GGDVTAPRLGSFSGTTVPALLNSTSNQLYLHFQSDISVAAAGFHLEY
KTVGLAACQEPAL
PSNSIKIGDRYMVNDVLSFQCEPGYTLQGRSHISCMPGTVRRWNYPSPLC
IATCGGTLST
LGGVILSPGFPGSYPNNLDCTWRISLPIGYGAHIQFLNFSTEANHDFLEIQNGPYHTSPM
IGQFSGTDLPAALLSTTHETLIHFYSDHSQNRQGFKLAY
QAYELQNCPDPPPFQNGYMIN
SDYSVGQSVSFECYPGYILIGHPVLTCQHGINRNWNYPFPRC
DAPCGYNVTSQNGTIYSP
GFPDEYPILKDCIWLITVPPGHGVYINFTLLQTEAVNDYIAVWDGPDQNSPQLGVFSGNT
ALETAYSSTNQVLLKFHSDFSNGGFFVLN
FHAFQLKKCQPPPAVPQAEMLTEDDDFEIGD
FVKYQCHPGYTLVGTDILTCKLSSQLQFEGSLPTC
EAQCPANEVRTGSSGVILSPGYPGN
YFNSQTCSWSIKVEPNYNITIFVDTFQSEKQFDALEVFDGSSGQSPLLVVLSGNHTEQSN
FTSRSNQLYLRWSTDHATSKKGFKIRY
AAPYCSLTHPLKNGGILNRTAGAVGSKVHYFCK
PGYRMVGHSNATCRRNPLGMYQWDSLTPLC
QAVSCGIPESPGNGSFTGNEFTLDSKVVYE
CHEGFKLESSQQATAVCQEDGLWSNKGKPPTC
KPVACPSIEAQLSEHVIWRLVSGSLNEY
GAQVLLSCSPGYYLEGWRLLRCQANGTWNIGDERPSC
RVISCGSLSFPPNGNKIGTLTVY
GATAIFTCNTGYTLVGSHVRECLANGLWSGSETRC
LAGHCGSPDPIVNGHISGDGFSYRD
TVVYQCNPGFRLVGTSVRICLQDHKWSGQTPVC
VPITCGHPGNPAHGFTNGSEFNLNDVV
NFTCNTGYLLQGVSRAQCRSNGQWSSPLPTC
RVVNCSDPGFVENAIRHGQQNFPESFEYG
MSILYHCKKGFYLLGSSALTCMANGLWDRSLPKC
LAISCGHPGVPANAVLTGELFTYGAV
VHYSCRGSESLIGNDTRVCQEDSHWSGALPHC
TGNNPGFCGDPGTPAHGSRLGDDFKTKS
LLRFSCEMGHQLRGSPERTCLLNGSWSGLQPVC
EAVSCGNPGTPTNGMIVSSDGILFSSS
VIYACWEGYKTSGLMTRHCTANGTWTGTAPDC
TIISCGDPGTLANGIQFGTDFTFNKTVS
YQCNPGYVMEAVTSATIRCTKDGRWNPSKPVC
KAVLCPQPPPVQNGTVEGSDFRWGSSIS
YSCMDGYQLSHSAILSCEGRGVWKGEIPQC
LPVFCGDPGIPAEGRLSGKSFTYKSEVFFQ
CKSPFILVGSSRRVCQADGTWSGIQPTC
IDPAHNTCPDPGTPHFGIQNSSRGYEVGSTVF
FRCRKGYHIQGSTTRTCLANLTWSGIQTEC
IPHACRQPETPAHADVRAIDLPTFGYTLVY
TCHPGFFLAGGSEHRTCKADMKWTGKSPVC
KSKGVREVNETVTKTPVPSDVFFVNSLWKG
YYEYLGKRQPATLTVDWFNATSSKVNATFSEASPVELKLTGIYKKEEAHLLLKAFQIKGQ
ADIFVSKFENDNWGLDGYVSSGLERGGFTFQGDIHGKDFGKFKLERQDPLNPDQDSSSHY
HGTSSGSVAAAILVPFFALILSGFAFYLYKHRTRPKVQYNGYAGHENSNGQASFENPMYD
TNLKPTEAKAVRFDTTLNTVCTVV
Sequence length 3564
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
78
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CSMD1-related disorder Likely pathogenic rs778028015 RCV003427948
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15138198
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18614856
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25024348, 35627222, 36553611 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033, 30514930
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 40362533 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24876173
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 24876173 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASDB_DG 23453885
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 23453885
★★☆☆☆
Found in Text Mining + Unknown/Other Associations