Human Gene SHROOM4 (ENST00000376020.9) from GENCODE V44
Description: Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). (from UniProt Q9ULL8) RefSeq Summary (NM_020717): 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]. Gencode Transcript: ENST00000376020.9 Gencode Gene: ENSG00000158352.18 Transcript (Including UTRs) Position: hg38 chrX:50,586,796-50,814,194 Size: 227,399 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chrX:50,596,695-50,814,018 Size: 217,324 Coding Exon Count: 9
ID:SHRM4_HUMAN DESCRIPTION: RecName: Full=Protein Shroom4; AltName: Full=Second homolog of apical protein; FUNCTION: Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). SUBUNIT: Interacts directly with F-actin (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Shows partial colocalization with the cytoplasmic pool of F-actin. TISSUE SPECIFICITY: Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and putamen. The expression is strongest in the medulla and weakest in the cerebral cortex. DISEASE: Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. DISEASE: Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. DISEASE: Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19). SIMILARITY: Belongs to the Shroom family. SIMILARITY: Contains 1 ASD2 domain. SIMILARITY: Contains 1 PDZ (DHR) domain. SEQUENCE CAUTION: Sequence=BAA86516.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAM13070.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9ULL8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Sequence and Links to Tools and Databases 
