Seroatlas · Human Serome Atlas

SHROOM4

Protein Shroom4

Also known as: KIAA1202, SHRM4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9ULL8
Gene: SHROOM4
Ensembl: ENSG00000158352
Chromosome: X
Canonical length: 1493 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Focal adhesion sites

OverviewNCBI Gene

This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1493 residues, UniProt reviewed canonical sequence.

>Q9ULL8|SHROOM4
     1  MENRPGSFQY VPVQLQGGAP WGFTLKGGLE HCEPLTVSKI EDGGKAALSQ KMRTGDELVN
    61  INGTPLYGSR QEALILIKGS FRILKLIVRR RNAPVSRPHS WHVAKLLEGC PEAATTMHFP
   121  SEAFSLSWHS GCNTSDVCVQ WCPLSRHCST EKSSSIGSME SLEQPGQATY ESHLLPIDQN
   181  MYPNQRDSAY SSFSASSNAS DCALSLRPEE PASTDCIMQG PGPTKAPSGR PNVAETSGGS
   241  RRTNGGHLTP SSQMSSRPQE GYQSGPAKAV RGPPQPPVRR DSLQASRAQL LNGEQRRASE
   301  PVVPLPQKEK LSLEPVLPAR NPNRFCCLSG HDQVTSEGHQ NCEFSQPPES SQQGSEHLLM
   361  QASTKAVGSP KACDRASSVD SNPLNEASAE LAKASFGRPP HLIGPTGHRH SAPEQLLASH
   421  LQHVHLDTRG SKGMELPPVQ DGHQWTLSPL HSSHKGKKSP CPPTGGTHDQ SSKERKTRQV
   481  DDRSLVLGHQ SQSSPPHGEA DGHPSEKGFL DPNRTSRAAS ELANQQPSAS GSLVQQATDC
   541  SSTTKAASGT EAGEEGDSEP KECSRMGGRR SGGTRGRSIQ NRRKSERFAT NLRNEIQRRK
   601  AQLQKSKGPL SQLCDTKEPV EETQEPPESP PLTASNTSLL SSCKKPPSPR DKLFNKSMML
   661  RARSSECLSQ APESHESRTG LEGRISPGQR PGQSSLGLNT WWKAPDPSSS DPEKAHAHCG
   721  VRGGHWRWSP EHNSQPLVAA AMEGPSNPGD NKELKASTAQ AGEDAILLPF ADRRKFFEES
   781  SKSLSTSHLP GLTTHSNKTF TQRPKPIDQN FQPMSSSCRE LRRHPMDQSY HSADQPYHAT
   841  DQSYHSMSPL QSETPTYSEC FASKGLENSM CCKPLHCGDF DYHRTCSYSC SVQGALVHDP
   901  CIYCSGEICP ALLKRNMMPN CYNCRCHHHQ CIRCSVCYHN PQHSALEDSS LAPGNTWKPR
   961  KLTVQEFPGD KWNPITGNRK TSQSGREMAH SKTSFSWATP FHPCLENPAL DLSSYRAISS
  1021  LDLLGDFKHA LKKSEETSVY EEGSSLASMP HPLRSRAFSE SHISLAPQST RAWGQHRREL
  1081  FSKGDETQSD LLGARKKAFP PPRPPPPNWE KYRLFRAAQQ QKQQQQQQKQ QEEEEEEEEE
  1141  EEEEEEEEEE EAEEEEEELP PQYFSSETSG SCALNPEEVL EQPQPLSFGH LEGSRQGSQS
  1201  VPAEQESFAL HSSDFLPPIR GHLGSQPEQA QPPCYYGIGG LWRTSGQEAT ESAKQEFQHF
  1261  SPPSGAPGIP TSYSAYYNIS VAKAELLNKL KDQPEMAEIG LGEEEVDHEL AQKKIQLIES
  1321  ISRKLSVLRE AQRGLLEDIN ANSALGEEVE ANLKAVCKSN EFEKYHLFVG DLDKVVNLLL
  1381  SLSGRLARVE NALNSIDSEA NQEKLVLIEK KQQLTGQLAD AKELKEHVDR REKLVFGMVS
  1441  RYLPQDQLQD YQHFVKMKSA LIIEQRELEE KIKLGEEQLK CLRESLLLGP SNF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHROOM4 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.61
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

lung: 14 nTPM
spinal cord: 12 nTPM
placenta: 8.4 nTPM
heart muscle: 7.9 nTPM
adipose tissue: 7.7 nTPM
midbrain: 5.5 nTPM

Single-cell type

oligodendrocytes: 584 nCPM
pituicytes/fscs: 554 nCPM
proximal tubule cells: 227 nCPM
vascular endothelial cells: 214 nCPM
distal convoluted tubule cells: 209 nCPM
renal connecting tubule cells: 137 nCPM

Immune cell

basophil: 0.3 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 67 nTPM
medulla oblongata: 56 nTPM
basal ganglia: 45 nTPM
pons: 43 nTPM
midbrain: 41 nTPM
cerebellum: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHROOM4.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 418 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked intellectual disability, Stocco dos Santos type
Intellectual disability

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 0.95
DepMap mean gene effect: -0.06
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SHROOM4 as an antibody target. Whether an autoantibody or antibody against SHROOM4 could matter depends on whether native SHROOM4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHROOM4 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 SHROOM4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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