Seroatlas · Human Serome Atlas

CSMD1

CUB and sushi domain-containing protein 1

Also known as: CSMD1_HUMAN, KIAA1890, PPP1R24

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96PZ7
Gene: CSMD1
Ensembl: ENSG00000183117
Chromosome: 8
Canonical length: 3564 aa
Protein class: Plasma proteins, Predicted membrane proteins
Subcellular location: Vesicles

OverviewNCBI Gene

Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

3564 residues, UniProt reviewed canonical sequence.

>Q96PZ7|CSMD1
     1  MTAWRRFQSL LLLLGLLVLC ARLLTAAKGQ NCGGLVQGPN GTIESPGFPH GYPNYANCTW
    61  IIITGERNRI QLSFHTFALE EDFDILSVYD GQPQQGNLKV RLSGFQLPSS IVSTGSILTL
   121  WFTTDFAVSA QGFKALYEVL PSHTCGNPGE ILKGVLHGTR FNIGDKIRYS CLPGYILEGH
   181  AILTCIVSPG NGASWDFPAP FCRAEGACGG TLRGTSSSIS SPHFPSEYEN NADCTWTILA
   241  EPGDTIALVF TDFQLEEGYD FLEISGTEAP SIWLTGMNLP SPVISSKNWL RLHFTSDSNH
   301  RRKGFNAQFQ VKKAIELKSR GVKMLPSKDG SHKNSVLSQG GVALVSDMCP DPGIPENGRR
   361  AGSDFRVGAN VQFSCEDNYV LQGSKSITCQ RVTETLAAWS DHRPICRART CGSNLRGPSG
   421  VITSPNYPVQ YEDNAHCVWV ITTTDPDKVI KLAFEEFELE RGYDTLTVGD AGKVGDTRSV
   481  LYVLTGSSVP DLIVSMSNQM WLHLQSDDSI GSPGFKAVYQ EIEKGGCGDP GIPAYGKRTG
   541  SSFLHGDTLT FECPAAFELV GERVITCQQN NQWSGNKPSC VFSCFFNFTA SSGIILSPNY
   601  PEEYGNNMNC VWLIISEPGS RIHLIFNDFD VEPQFDFLAV KDDGISDITV LGTFSGNEVP
   661  SQLASSGHIV RLEFQSDHST TGRGFNITYT TFGQNECHDP GIPINGRRFG DRFLLGSSVS
   721  FHCDDGFVKT QGSESITCIL QDGNVVWSST VPRCEAPCGG HLTASSGVIL PPGWPGYYKD
   781  SLHCEWIIEA KPGHSIKITF DRFQTEVNYD TLEVRDGPAS SSPLIGEYHG TQAPQFLIST
   841  GNFMYLLFTT DNSRSSIGFL IHYESVTLES DSCLDPGIPV NGHRHGGDFG IRSTVTFSCD
   901  PGYTLSDDEP LVCERNHQWN HALPSCDALC GGYIQGKSGT VLSPGFPDFY PNSLNCTWTI
   961  EVSHGKGVQM IFHTFHLESS HDYLLITEDG SFSEPVARLT GSVLPHTIKA GLFGNFTAQL
  1021  RFISDFSISY EGFNITFSEY DLEPCDDPGV PAFSRRIGFH FGVGDSLTFS CFLGYRLEGA
  1081  TKLTCLGGGR RVWSAPLPRC VAECGASVKG NEGTLLSPNF PSNYDNNHEC IYKIETEAGK
  1141  GIHLRTRSFQ LFEGDTLKVY DGKDSSSRPL GTFTKNELLG LILNSTSNHL WLEFNTNGSD
  1201  TDQGFQLTYT SFDLVKCEDP GIPNYGYRIR DEGHFTDTVV LYSCNPGYAM HGSNTLTCLS
  1261  GDRRVWDKPL PSCIAECGGQ IHAATSGRIL SPGYPAPYDN NLHCTWIIEA DPGKTISLHF
  1321  IVFDTEMAHD ILKVWDGPVD SDILLKEWSG SALPEDIHST FNSLTLQFDS DFFISKSGFS
  1381  IQFSTSIAAT CNDPGMPQNG TRYGDSREAG DTVTFQCDPG YQLQGQAKIT CVQLNNRFFW
  1441  QPDPPTCIAA CGGNLTGPAG VILSPNYPQP YPPGKECDWR VKVNPDFVIA LIFKSFNMEP
  1501  SYDFLHIYEG EDSNSPLIGS YQGSQAPERI ESSGNSLFLA FRSDASVGLS GFAIEFKEKP
  1561  REACFDPGNI MNGTRVGTDF KLGSTITYQC DSGYKILDPS SITCVIGADG KPSWDQVLPS
  1621  CNAPCGGQYT GSEGVVLSPN YPHNYTAGQI CLYSITVPKE FVVFGQFAYF QTALNDLAEL
  1681  FDGTHAQARL LSSLSGSHSG ETLPLATSNQ ILLRFSAKSG ASARGFHFVY QAVPRTSDTQ
  1741  CSSVPEPRYG RRIGSEFSAG SIVRFECNPG YLLQGSTALH CQSVPNALAQ WNDTIPSCVV
  1801  PCSGNFTQRR GTILSPGYPE PYGNNLNCIW KIIVTEGSGI QIQVISFATE QNWDSLEIHD
  1861  GGDVTAPRLG SFSGTTVPAL LNSTSNQLYL HFQSDISVAA AGFHLEYKTV GLAACQEPAL
  1921  PSNSIKIGDR YMVNDVLSFQ CEPGYTLQGR SHISCMPGTV RRWNYPSPLC IATCGGTLST
  1981  LGGVILSPGF PGSYPNNLDC TWRISLPIGY GAHIQFLNFS TEANHDFLEI QNGPYHTSPM
  2041  IGQFSGTDLP AALLSTTHET LIHFYSDHSQ NRQGFKLAYQ AYELQNCPDP PPFQNGYMIN
  2101  SDYSVGQSVS FECYPGYILI GHPVLTCQHG INRNWNYPFP RCDAPCGYNV TSQNGTIYSP
  2161  GFPDEYPILK DCIWLITVPP GHGVYINFTL LQTEAVNDYI AVWDGPDQNS PQLGVFSGNT
  2221  ALETAYSSTN QVLLKFHSDF SNGGFFVLNF HAFQLKKCQP PPAVPQAEML TEDDDFEIGD
  2281  FVKYQCHPGY TLVGTDILTC KLSSQLQFEG SLPTCEAQCP ANEVRTGSSG VILSPGYPGN
  2341  YFNSQTCSWS IKVEPNYNIT IFVDTFQSEK QFDALEVFDG SSGQSPLLVV LSGNHTEQSN
  2401  FTSRSNQLYL RWSTDHATSK KGFKIRYAAP YCSLTHPLKN GGILNRTAGA VGSKVHYFCK
  2461  PGYRMVGHSN ATCRRNPLGM YQWDSLTPLC QAVSCGIPES PGNGSFTGNE FTLDSKVVYE
  2521  CHEGFKLESS QQATAVCQED GLWSNKGKPP TCKPVACPSI EAQLSEHVIW RLVSGSLNEY
  2581  GAQVLLSCSP GYYLEGWRLL RCQANGTWNI GDERPSCRVI SCGSLSFPPN GNKIGTLTVY
  2641  GATAIFTCNT GYTLVGSHVR ECLANGLWSG SETRCLAGHC GSPDPIVNGH ISGDGFSYRD
  2701  TVVYQCNPGF RLVGTSVRIC LQDHKWSGQT PVCVPITCGH PGNPAHGFTN GSEFNLNDVV
  2761  NFTCNTGYLL QGVSRAQCRS NGQWSSPLPT CRVVNCSDPG FVENAIRHGQ QNFPESFEYG
  2821  MSILYHCKKG FYLLGSSALT CMANGLWDRS LPKCLAISCG HPGVPANAVL TGELFTYGAV
  2881  VHYSCRGSES LIGNDTRVCQ EDSHWSGALP HCTGNNPGFC GDPGTPAHGS RLGDDFKTKS
  2941  LLRFSCEMGH QLRGSPERTC LLNGSWSGLQ PVCEAVSCGN PGTPTNGMIV SSDGILFSSS
  3001  VIYACWEGYK TSGLMTRHCT ANGTWTGTAP DCTIISCGDP GTLANGIQFG TDFTFNKTVS
  3061  YQCNPGYVME AVTSATIRCT KDGRWNPSKP VCKAVLCPQP PPVQNGTVEG SDFRWGSSIS
  3121  YSCMDGYQLS HSAILSCEGR GVWKGEIPQC LPVFCGDPGI PAEGRLSGKS FTYKSEVFFQ
  3181  CKSPFILVGS SRRVCQADGT WSGIQPTCID PAHNTCPDPG TPHFGIQNSS RGYEVGSTVF
  3241  FRCRKGYHIQ GSTTRTCLAN LTWSGIQTEC IPHACRQPET PAHADVRAID LPTFGYTLVY
  3301  TCHPGFFLAG GSEHRTCKAD MKWTGKSPVC KSKGVREVNE TVTKTPVPSD VFFVNSLWKG
  3361  YYEYLGKRQP ATLTVDWFNA TSSKVNATFS EASPVELKLT GIYKKEEAHL LLKAFQIKGQ
  3421  ADIFVSKFEN DNWGLDGYVS SGLERGGFTF QGDIHGKDFG KFKLERQDPL NPDQDSSSHY
  3481  HGTSSGSVAA AILVPFFALI LSGFAFYLYK HRTRPKVQYN GYAGHENSNG QASFENPMYD
  3541  TNLKPTEAKA VRFDTTLNTV CTVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSMD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0
Highest tissue expression: 4 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 4 nTPM
basal ganglia: 3 nTPM
testis: 2.4 nTPM
hippocampal formation: 2.3 nTPM
amygdala: 2.1 nTPM
hypothalamus: 1.8 nTPM

Single-cell type

oligodendrocyte progenitor cells: 7,058 nCPM
brain inhibitory neurons: 4,301 nCPM
brain excitatory neurons: 4,078 nCPM
sertoli cells: 2,669 nCPM
other brain neurons: 2,052 nCPM
conjunctival goblet cells: 1,041 nCPM

Immune cell

classical monocyte: 0.1 nTPM
myeloid DC: 0.1 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 47 nTPM
amygdala: 31 nTPM
basal ganglia: 31 nTPM
hippocampal formation: 30 nTPM
white matter: 29 nTPM
hypothalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSMD1.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 1,078 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Schizophrenia
Autism
CSMD1-related disorder
CSMD1-associated neurodevelopmental disorder

Disease | ImmuneIEDB

Conditions an epitope on CSMD1 was assayed in.

nodular malignant melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.21
gnomAD pLI: 1
gnomAD missense Z: -6.87
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CSMD1 as an antibody target. Whether an autoantibody or antibody against CSMD1 could matter depends on whether native CSMD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CSMD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CSMD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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