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Protein

Protein Shroom4

Gene

SHROOM4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

  • actin cytoskeleton organization Source: UniProtKB
  • actin filament organization Source: UniProtKB
  • brain development Source: UniProtKB
  • cognition Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158352-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Shroom4
Alternative name(s):
Second homolog of apical protein
Gene namesi
Name:SHROOM4
Synonyms:KIAA1202, SHAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29215. SHROOM4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

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.
See also OMIM:300434
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0322581089S → L in SDSX. 1 PublicationCorresponds to variant rs121434620dbSNPEnsembl.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

DisGeNETi57477.
MalaCardsiSHROOM4.
MIMi300434. phenotype.
OpenTargetsiENSG00000158352.
Orphaneti85288. X-linked intellectual disability, Stocco Dos Santos type.
PharmGKBiPA147357321.

Polymorphism and mutation databases

BioMutaiSHROOM4.
DMDMi313104187.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002870771 – 1493Protein Shroom4Add BLAST1493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei411PhosphoserineBy similarity1
Modified residuei729PhosphoserineBy similarity1
Modified residuei1019PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULL8.
PaxDbiQ9ULL8.
PeptideAtlasiQ9ULL8.
PRIDEiQ9ULL8.

PTM databases

iPTMnetiQ9ULL8.
PhosphoSitePlusiQ9ULL8.

Expressioni

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

BgeeiENSG00000158352.
CleanExiHS_SHROOM4.
GenevisibleiQ9ULL8. HS.

Organism-specific databases

HPAiHPA010565.

Interactioni

Subunit structurei

Interacts directly with F-actin.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121547. 1 interactor.
STRINGi9606.ENSP00000289292.

Structurei

Secondary structure

11493
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi9 – 14Combined sources6
Beta strandi25 – 28Combined sources4
Helixi29 – 31Combined sources3
Beta strandi33 – 37Combined sources5
Helixi45 – 49Combined sources5
Beta strandi57 – 61Combined sources5
Helixi71 – 78Combined sources8
Beta strandi85 – 90Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDPNMR-A6-92[»]
ProteinModelPortaliQ9ULL8.
SMRiQ9ULL8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9ULL8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 92PDZPROSITE-ProRule annotationAdd BLAST83
Domaini1213 – 1492ASD2PROSITE-ProRule annotationAdd BLAST280

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1382 – 1488Sequence analysisAdd BLAST107

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi871 – 937Cys-richAdd BLAST67
Compositional biasi1100 – 1107Poly-Pro8
Compositional biasi1119 – 1135Gln-richAdd BLAST17
Compositional biasi1136 – 1181Glu-richAdd BLAST46

Sequence similaritiesi

Belongs to the shroom family.Curated
Contains 1 ASD2 domain.PROSITE-ProRule annotation
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IERS. Eukaryota.
ENOG41113GY. LUCA.
GeneTreeiENSGT00530000063061.
HOGENOMiHOG000060301.
HOVERGENiHBG108490.
InParanoidiQ9ULL8.
KOiK18625.
OMAiEMAHSKA.
OrthoDBiEOG091G00F1.
PhylomeDBiQ9ULL8.
TreeFamiTF333370.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR014799. ASD2_dom.
IPR001478. PDZ.
IPR027687. Shroom4.
IPR027685. Shroom_fam.
[Graphical view]
PANTHERiPTHR15012. PTHR15012. 1 hit.
PTHR15012:SF35. PTHR15012:SF35. 1 hit.
PfamiPF08687. ASD2. 1 hit.
[Graphical view]
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS51307. ASD2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 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 '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.

« 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
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

Sequence cautioni

The sequence BAA86516 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAM13070 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_075207627P → S.1 PublicationCorresponds to variant rs150861758dbSNPEnsembl.1
Natural variantiVAR_057770722R → H.Corresponds to variant rs3761506dbSNPEnsembl.1
Natural variantiVAR_057771807I → T.Corresponds to variant rs3761505dbSNPEnsembl.1
Natural variantiVAR_032257970D → G.Corresponds to variant rs2281571dbSNPEnsembl.1
Natural variantiVAR_0322581089S → L in SDSX. 1 PublicationCorresponds to variant rs121434620dbSNPEnsembl.1
Natural variantiVAR_0746391367L → F.1 PublicationCorresponds to variant rs28362302dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0252901 – 116Missing in isoform 2. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS35277.1. [Q9ULL8-1]
RefSeqiNP_065768.2. NM_020717.3. [Q9ULL8-1]
UniGeneiHs.420541.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS35277.1. [Q9ULL8-1]
RefSeqiNP_065768.2. NM_020717.3. [Q9ULL8-1]
UniGeneiHs.420541.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDPNMR-A6-92[»]
ProteinModelPortaliQ9ULL8.
SMRiQ9ULL8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121547. 1 interactor.
STRINGi9606.ENSP00000289292.

PTM databases

iPTMnetiQ9ULL8.
PhosphoSitePlusiQ9ULL8.

Polymorphism and mutation databases

BioMutaiSHROOM4.
DMDMi313104187.

Proteomic databases

EPDiQ9ULL8.
PaxDbiQ9ULL8.
PeptideAtlasiQ9ULL8.
PRIDEiQ9ULL8.

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

CTDi57477.
DisGeNETi57477.
GeneCardsiSHROOM4.
HGNCiHGNC:29215. SHROOM4.
HPAiHPA010565.
MalaCardsiSHROOM4.
MIMi300434. phenotype.
300579. gene.
neXtProtiNX_Q9ULL8.
OpenTargetsiENSG00000158352.
Orphaneti85288. X-linked intellectual disability, Stocco Dos Santos type.
PharmGKBiPA147357321.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IERS. Eukaryota.
ENOG41113GY. LUCA.
GeneTreeiENSGT00530000063061.
HOGENOMiHOG000060301.
HOVERGENiHBG108490.
InParanoidiQ9ULL8.
KOiK18625.
OMAiEMAHSKA.
OrthoDBiEOG091G00F1.
PhylomeDBiQ9ULL8.
TreeFamiTF333370.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158352-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ9ULL8.
GenomeRNAii57477.
PROiQ9ULL8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158352.
CleanExiHS_SHROOM4.
GenevisibleiQ9ULL8. HS.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR014799. ASD2_dom.
IPR001478. PDZ.
IPR027687. Shroom4.
IPR027685. Shroom_fam.
[Graphical view]
PANTHERiPTHR15012. PTHR15012. 1 hit.
PTHR15012:SF35. PTHR15012:SF35. 1 hit.
PfamiPF08687. ASD2. 1 hit.
[Graphical view]
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS51307. ASD2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSHRM4_HUMAN
AccessioniPrimary (citable) accession number: Q9ULL8
Secondary accession number(s): A7E2X9, D6RFW0, Q96LA0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 112 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.