Q9ULL8 (SHRM4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 85.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein Shroom4 Alternative name(s): Second homolog of apical protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1493 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.6 |
| Subunit structure | Interacts directly with F-actin By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton. Note: Shows partial colocalization with the cytoplasmic pool of F-actin. Ref.6 Ref.8 |
| 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. Ref.8 |
| Involvement in disease | Mental retardation, X-linked, syndromic, 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. A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19). |
| Sequence similarities | Belongs to the shroom family. Contains 1 ASD2 domain. Contains 1 PDZ (DHR) domain. |
| Sequence caution | The sequence BAA86516.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAM13070.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9ULL8-1) Also known as: SHAP-B; 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. | ||||||
| Isoform 2 (identifier: Q9ULL8-2) Also known as: SHAP-A; The sequence of this isoform differs from the canonical sequence as follows: 1-116: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1493 | 1493 | Protein Shroom4 | PRO_0000287077 | ||||||||||||||||||||
Regions | ||||||||||||||||||||||||
| Domain | 10 – 92 | 83 | PDZ | |||||||||||||||||||||
| Domain | 1213 – 1492 | 280 | ASD2 | |||||||||||||||||||||
| Coiled coil | 1382 – 1488 | 107 | Potential | |||||||||||||||||||||
| Compositional bias | 871 – 937 | 67 | Cys-rich | |||||||||||||||||||||
| Compositional bias | 1100 – 1107 | 8 | Poly-Pro | |||||||||||||||||||||
| Compositional bias | 1119 – 1135 | 17 | Gln-rich | |||||||||||||||||||||
| Compositional bias | 1136 – 1181 | 46 | Glu-rich | |||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||
| Alternative sequence | 1 – 116 | 116 | Missing in isoform 2. | VSP_025290 | ||||||||||||||||||||
| Natural variant | 722 | 1 | R → H. Corresponds to variant rs3761506 [ dbSNP | Ensembl ]. | VAR_057770 | ||||||||||||||||||||
| Natural variant | 807 | 1 | I → T. Corresponds to variant rs3761505 [ dbSNP | Ensembl ]. | VAR_057771 | ||||||||||||||||||||
| Natural variant | 970 | 1 | D → G. Corresponds to variant rs2281571 [ dbSNP | Ensembl ]. | VAR_032257 | ||||||||||||||||||||
| Natural variant | 1089 | 1 | S → L in SDSX. Ref.8 | VAR_032258 | ||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||
| Sequence conflict | 1129 – 1131 | 3 | KQQ → QQQQKQQE in BAA86516. Ref.1 | |||||||||||||||||||||
| Sequence conflict | 1129 – 1131 | 3 | KQQ → QQQQKQQE in AAI51241. Ref.3 | |||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||
| Beta strand | 9 – 14 | 6 | ||||||||||||||||||||||
| Beta strand | 25 – 28 | 4 | ||||||||||||||||||||||
| Helix | 29 – 31 | 3 | ||||||||||||||||||||||
| Beta strand | 33 – 37 | 5 | ||||||||||||||||||||||
| Helix | 45 – 49 | 5 | ||||||||||||||||||||||
| Beta strand | 57 – 61 | 5 | ||||||||||||||||||||||
| Helix | 71 – 78 | 8 | ||||||||||||||||||||||
| Beta strand | 85 – 90 | 6 | ||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "5'-sequence of TATA-box dependent expression forms of the human SHAP gene." Patzak D. Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-839 (ISOFORM 2). Tissue: Heart. |
| [5] | "A new standard nomenclature for proteins related to Apx and Shroom." Hagens O., Ballabio A., Kalscheuer V., Kraehenbuhl J.-P., Schiaffino M.V., Smith P., Staub O., Hildebrand J.D., Wallingford J.B. BMC Cell Biol. 7:18-18(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NOMENCLATURE. |
| [6] | "Differential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteins." Dietz M.L., Bernaciak T.M., Vendetti F., Kielec J.M., Hildebrand J.D. J. Biol. Chem. 281:20542-20554(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [7] | "Solution structure of the PDZ domain from human Shroom family member 4." RIKEN structural genomics initiative (RSGI) Submitted (AUG-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 6-93. |
| [8] | "Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation." Hagens O., Dubos A., Abidi F., Barbi G., Van Zutven L., Hoeltzenbein M., Tommerup N., Moraine C., Fryns J.-P., Chelly J., van Bokhoven H., Gecz J., Dollfus H., Ropers H.-H., Schwartz C.E., de Cassia Stocco Dos Santos R., Kalscheuer V., Hanauer A. Hum. Genet. 118:578-590(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SDSX LEU-1089, CHROMOSOMAL TRANSLOCATION WITH FBXO25, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AB033028 mRNA. Translation: BAA86516.1. Different initiation. AL121865 Genomic DNA. Translation: CAM13070.1. Sequence problems. AL445491 Genomic DNA. No translation available. AL359272 Genomic DNA. No translation available. BC151240 mRNA. Translation: AAI51241.1. AY044234 mRNA. Translation: AAK95579.1. | ||||||||||||
| IPI | IPI00008176. IPI00845416. | ||||||||||||
| RefSeq | NP_065768.2. NM_020717.3. | ||||||||||||
| UniGene | Hs.420541. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | Q9ULL8. | ||||||||||||
| SMR | Q9ULL8. Positions 8-93, 1310-1485. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| STRING | 9606.ENSP00000289292. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9ULL8. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 147733019. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q9ULL8. | ||||||||||||
| PRIDE | Q9ULL8. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000289292; ENSP00000289292; ENSG00000158352. ENST00000376020; ENSP00000365188; ENSG00000158352. ENST00000460112; ENSP00000421450; ENSG00000158352. ENST00000596464; ENSP00000472785; ENSG00000268668. ENST00000600171; ENSP00000472407; ENSG00000268668. ENST00000601085; ENSP00000468998; ENSG00000268668. | ||||||||||||
| GeneID | 57477. | ||||||||||||
| KEGG | hsa:57477. | ||||||||||||
| UCSC | uc004dpe.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 57477. | ||||||||||||
| GeneCards | GC0XM050351. | ||||||||||||
| HGNC | HGNC:29215. SHROOM4. | ||||||||||||
| HPA | HPA010565. | ||||||||||||
| MIM | 300434. phenotype. 300579. gene. | ||||||||||||
| neXtProt | NX_Q9ULL8. | ||||||||||||
| Orphanet | 85288. Intellectual deficit, X-linked, Stocco Dos Santos type. | ||||||||||||
| PharmGKB | PA147357321. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG80303. | ||||||||||||
| HOGENOM | HOG000060301. | ||||||||||||
| HOVERGEN | HBG108490. | ||||||||||||
| InParanoid | Q9ULL8. | ||||||||||||
| OMA | SQSGREM. | ||||||||||||
| OrthoDB | EOG4TTGH0. | ||||||||||||
Gene expression databases | |||||||||||||
| Bgee | Q9ULL8. | ||||||||||||
| CleanEx | HS_SHROOM4. | ||||||||||||
| Genevestigator | Q9ULL8. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR014799. ASD2. IPR001478. PDZ. [Graphical view] | ||||||||||||
| Pfam | PF08687. ASD2. 1 hit. PF00595. PDZ. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00228. PDZ. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF50156. PDZ. 1 hit. | ||||||||||||
| PROSITE | PS51307. ASD2. 1 hit. PS50106. PDZ. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q9ULL8. | ||||||||||||
| GenomeRNAi | 57477. | ||||||||||||
| NextBio | 63723. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SHRM4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9ULL8 Secondary accession number(s): A7E2X9, D6RFW0, Q96LA0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
