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Entry version 133 (18 Sep 2019)
Sequence version 3 (30 Nov 2010)
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Protein

Protein Shroom4

Gene

SHROOM4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding, Developmental protein

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein Shroom4
Alternative name(s):
Second homolog of apical protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SHROOM4
Synonyms:KIAA1202, SHAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29215 SHROOM4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300579 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULL8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0322581089S → L in SDSX. 1 PublicationCorresponds to variant dbSNP:rs121434620EnsemblClinVar.1
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).

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57477

MalaCards human disease database

More...
MalaCardsi
SHROOM4
MIMi300434 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158352

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
85288 X-linked intellectual disability, Stocco Dos Santos type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA147357321

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SHROOM4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104187

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002870771 – 1493Protein Shroom4Add BLAST1493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei411PhosphoserineBy similarity1
Modified residuei729PhosphoserineBy similarity1
Modified residuei1019PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9ULL8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9ULL8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9ULL8

PeptideAtlas

More...
PeptideAtlasi
Q9ULL8

PRoteomics IDEntifications database

More...
PRIDEi
Q9ULL8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85073 [Q9ULL8-1]
85074 [Q9ULL8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ULL8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9ULL8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000158352 Expressed in 146 organ(s), highest expression level in corpus callosum

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9ULL8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010565

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts directly with F-actin.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121547, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365188

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11493
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9ULL8

Database of comparative protein structure models

More...
ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9ULL8

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini10 – 92PDZPROSITE-ProRule annotationAdd BLAST83
Domaini1213 – 1492ASD2PROSITE-ProRule annotationAdd BLAST280

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1382 – 1488Sequence analysisAdd BLAST107

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi871 – 937Cys-richAdd BLAST67
Compositional biasi1100 – 1107Poly-Pro8
Compositional biasi1119 – 1135Gln-richAdd BLAST17
Compositional biasi1136 – 1181Glu-richAdd BLAST46

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the shroom family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IERS Eukaryota
ENOG41113GY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159479

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060301

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9ULL8

KEGG Orthology (KO)

More...
KOi
K18625

Identification of Orthologs from Complete Genome Data

More...
OMAi
DQVTNEG

Database of Orthologous Groups

More...
OrthoDBi
29607at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9ULL8

TreeFam database of animal gene trees

More...
TreeFami
TF333370

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR014799 ASD2_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR027687 Shroom4
IPR027685 Shroom_fam

The PANTHER Classification System

More...
PANTHERi
PTHR15012 PTHR15012, 1 hit
PTHR15012:SF35 PTHR15012:SF35, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08687 ASD2, 1 hit
PF00595 PDZ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00228 PDZ, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51307 ASD2, 1 hit
PS50106 PDZ, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9ULL8-1) [UniParc]FASTAAdd to basket
Also known as: SHAP-B

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MENRPGSFQY VPVQLQGGAP WGFTLKGGLE HCEPLTVSKI EDGGKAALSQ
60 70 80 90 100
KMRTGDELVN INGTPLYGSR QEALILIKGS FRILKLIVRR RNAPVSRPHS
110 120 130 140 150
WHVAKLLEGC PEAATTMHFP SEAFSLSWHS GCNTSDVCVQ WCPLSRHCST
160 170 180 190 200
EKSSSIGSME SLEQPGQATY ESHLLPIDQN MYPNQRDSAY SSFSASSNAS
210 220 230 240 250
DCALSLRPEE PASTDCIMQG PGPTKAPSGR PNVAETSGGS RRTNGGHLTP
260 270 280 290 300
SSQMSSRPQE GYQSGPAKAV RGPPQPPVRR DSLQASRAQL LNGEQRRASE
310 320 330 340 350
PVVPLPQKEK LSLEPVLPAR NPNRFCCLSG HDQVTSEGHQ NCEFSQPPES
360 370 380 390 400
SQQGSEHLLM QASTKAVGSP KACDRASSVD SNPLNEASAE LAKASFGRPP
410 420 430 440 450
HLIGPTGHRH SAPEQLLASH LQHVHLDTRG SKGMELPPVQ DGHQWTLSPL
460 470 480 490 500
HSSHKGKKSP CPPTGGTHDQ SSKERKTRQV DDRSLVLGHQ SQSSPPHGEA
510 520 530 540 550
DGHPSEKGFL DPNRTSRAAS ELANQQPSAS GSLVQQATDC SSTTKAASGT
560 570 580 590 600
EAGEEGDSEP KECSRMGGRR SGGTRGRSIQ NRRKSERFAT NLRNEIQRRK
610 620 630 640 650
AQLQKSKGPL SQLCDTKEPV EETQEPPESP PLTASNTSLL SSCKKPPSPR
660 670 680 690 700
DKLFNKSMML RARSSECLSQ APESHESRTG LEGRISPGQR PGQSSLGLNT
710 720 730 740 750
WWKAPDPSSS DPEKAHAHCG VRGGHWRWSP EHNSQPLVAA AMEGPSNPGD
760 770 780 790 800
NKELKASTAQ AGEDAILLPF ADRRKFFEES SKSLSTSHLP GLTTHSNKTF
810 820 830 840 850
TQRPKPIDQN FQPMSSSCRE LRRHPMDQSY HSADQPYHAT DQSYHSMSPL
860 870 880 890 900
QSETPTYSEC FASKGLENSM CCKPLHCGDF DYHRTCSYSC SVQGALVHDP
910 920 930 940 950
CIYCSGEICP ALLKRNMMPN CYNCRCHHHQ CIRCSVCYHN PQHSALEDSS
960 970 980 990 1000
LAPGNTWKPR KLTVQEFPGD KWNPITGNRK TSQSGREMAH SKTSFSWATP
1010 1020 1030 1040 1050
FHPCLENPAL DLSSYRAISS LDLLGDFKHA LKKSEETSVY EEGSSLASMP
1060 1070 1080 1090 1100
HPLRSRAFSE SHISLAPQST RAWGQHRREL FSKGDETQSD LLGARKKAFP
1110 1120 1130 1140 1150
PPRPPPPNWE KYRLFRAAQQ QKQQQQQQKQ QEEEEEEEEE EEEEEEEEEE
1160 1170 1180 1190 1200
EAEEEEEELP PQYFSSETSG SCALNPEEVL EQPQPLSFGH LEGSRQGSQS
1210 1220 1230 1240 1250
VPAEQESFAL HSSDFLPPIR GHLGSQPEQA QPPCYYGIGG LWRTSGQEAT
1260 1270 1280 1290 1300
ESAKQEFQHF SPPSGAPGIP TSYSAYYNIS VAKAELLNKL KDQPEMAEIG
1310 1320 1330 1340 1350
LGEEEVDHEL AQKKIQLIES ISRKLSVLRE AQRGLLEDIN ANSALGEEVE
1360 1370 1380 1390 1400
ANLKAVCKSN EFEKYHLFVG DLDKVVNLLL SLSGRLARVE NALNSIDSEA
1410 1420 1430 1440 1450
NQEKLVLIEK KQQLTGQLAD AKELKEHVDR REKLVFGMVS RYLPQDQLQD
1460 1470 1480 1490
YQHFVKMKSA LIIEQRELEE KIKLGEEQLK CLRESLLLGP SNF
Length:1,493
Mass (Da):164,857
Last modified:November 30, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i40260DC12A24EAFF
GO
Isoform 2 (identifier: Q9ULL8-2) [UniParc]FASTAAdd to basket
Also known as: SHAP-A

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.

Show »
Length:1,377
Mass (Da):152,183
Checksum:i8CDB0DC1B5552E43
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86516 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1129 – 1131KQQ → QQQQKQQE in BAA86516 (PubMed:10574462).Curated3
Sequence conflicti1129 – 1131KQQ → QQQQKQQE in AAI51241 (PubMed:15489334).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079036146R → W Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs189694750EnsemblClinVar.1
Natural variantiVAR_075207627P → S1 PublicationCorresponds to variant dbSNP:rs150861758EnsemblClinVar.1
Natural variantiVAR_057770722R → H. Corresponds to variant dbSNP:rs3761506EnsemblClinVar.1
Natural variantiVAR_057771807I → T. Corresponds to variant dbSNP:rs3761505Ensembl.1
Natural variantiVAR_032257970D → G. Corresponds to variant dbSNP:rs2281571Ensembl.1
Natural variantiVAR_0322581089S → L in SDSX. 1 PublicationCorresponds to variant dbSNP:rs121434620EnsemblClinVar.1
Natural variantiVAR_0746391367L → F1 PublicationCorresponds to variant dbSNP:rs28362302EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0252901 – 116Missing in isoform 2. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB033028 mRNA Translation: BAA86516.1 Different initiation.
AL121865 Genomic DNA No translation available.
AL445491 Genomic DNA No translation available.
AL359272 Genomic DNA No translation available.
BC151240 mRNA Translation: AAI51241.1
AY044234 mRNA Translation: AAK95579.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35277.1 [Q9ULL8-1]

NCBI Reference Sequences

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RefSeqi
NP_065768.2, NM_020717.3 [Q9ULL8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000289292; ENSP00000289292; ENSG00000158352 [Q9ULL8-1]
ENST00000376020; ENSP00000365188; ENSG00000158352 [Q9ULL8-1]
ENST00000460112; ENSP00000421450; ENSG00000158352 [Q9ULL8-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57477

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57477

UCSC genome browser

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UCSCi
uc004dpe.4 human [Q9ULL8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033028 mRNA Translation: BAA86516.1 Different initiation.
AL121865 Genomic DNA No translation available.
AL445491 Genomic DNA No translation available.
AL359272 Genomic DNA No translation available.
BC151240 mRNA Translation: AAI51241.1
AY044234 mRNA Translation: AAK95579.1
CCDSiCCDS35277.1 [Q9ULL8-1]
RefSeqiNP_065768.2, NM_020717.3 [Q9ULL8-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDPNMR-A6-92[»]
SMRiQ9ULL8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121547, 1 interactor
STRINGi9606.ENSP00000365188

PTM databases

iPTMnetiQ9ULL8
PhosphoSitePlusiQ9ULL8

Polymorphism and mutation databases

BioMutaiSHROOM4
DMDMi313104187

Proteomic databases

jPOSTiQ9ULL8
MassIVEiQ9ULL8
PaxDbiQ9ULL8
PeptideAtlasiQ9ULL8
PRIDEiQ9ULL8
ProteomicsDBi85073 [Q9ULL8-1]
85074 [Q9ULL8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289292; ENSP00000289292; ENSG00000158352 [Q9ULL8-1]
ENST00000376020; ENSP00000365188; ENSG00000158352 [Q9ULL8-1]
ENST00000460112; ENSP00000421450; ENSG00000158352 [Q9ULL8-2]
GeneIDi57477
KEGGihsa:57477
UCSCiuc004dpe.4 human [Q9ULL8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57477
DisGeNETi57477

GeneCards: human genes, protein and diseases

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GeneCardsi
SHROOM4
HGNCiHGNC:29215 SHROOM4
HPAiHPA010565
MalaCardsiSHROOM4
MIMi300434 phenotype
300579 gene
neXtProtiNX_Q9ULL8
OpenTargetsiENSG00000158352
Orphaneti85288 X-linked intellectual disability, Stocco Dos Santos type
PharmGKBiPA147357321

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IERS Eukaryota
ENOG41113GY LUCA
GeneTreeiENSGT00940000159479
HOGENOMiHOG000060301
InParanoidiQ9ULL8
KOiK18625
OMAiDQVTNEG
OrthoDBi29607at2759
PhylomeDBiQ9ULL8
TreeFamiTF333370

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SHROOM4 human
EvolutionaryTraceiQ9ULL8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57477

Pharos

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Pharosi
Q9ULL8

Protein Ontology

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PROi
PR:Q9ULL8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000158352 Expressed in 146 organ(s), highest expression level in corpus callosum
GenevisibleiQ9ULL8 HS

Family and domain databases

InterProiView protein in InterPro
IPR014799 ASD2_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR027687 Shroom4
IPR027685 Shroom_fam
PANTHERiPTHR15012 PTHR15012, 1 hit
PTHR15012:SF35 PTHR15012:SF35, 1 hit
PfamiView protein in Pfam
PF08687 ASD2, 1 hit
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS51307 ASD2, 1 hit
PS50106 PDZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSHRM4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9ULL8
Secondary accession number(s): A7E2X9, D6RFW0, Q96LA0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 30, 2010
Last modified: September 18, 2019
This is version 133 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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