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Q9ULL8 (SHRM4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Shroom4
Alternative name(s):
Second homolog of apical protein
Gene names
Name:SHROOM4
Synonyms:KIAA1202, SHAP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1493 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeleton. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14931493Protein Shroom4
PRO_0000287077

Regions

Domain10 – 9283PDZ
Domain1213 – 1492280ASD2
Coiled coil1382 – 1488107 Potential
Compositional bias871 – 93767Cys-rich
Compositional bias1100 – 11078Poly-Pro
Compositional bias1119 – 113517Gln-rich
Compositional bias1136 – 118146Glu-rich

Natural variations

Alternative sequence1 – 116116Missing in isoform 2.
VSP_025290
Natural variant7221R → H.
Corresponds to variant rs3761506 [ dbSNP | Ensembl ].
VAR_057770
Natural variant8071I → T.
Corresponds to variant rs3761505 [ dbSNP | Ensembl ].
VAR_057771
Natural variant9701D → G.
Corresponds to variant rs2281571 [ dbSNP | Ensembl ].
VAR_032257
Natural variant10891S → L in SDSX. Ref.8
VAR_032258

Experimental info

Sequence conflict1129 – 11313KQQ → QQQQKQQE in BAA86516. Ref.1
Sequence conflict1129 – 11313KQQ → QQQQKQQE in AAI51241. Ref.3

Secondary structure

................ 1493
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (SHAP-B) [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 40260DC12A24EAFF

FASTA1,493164,857
        10         20         30         40         50         60 
MENRPGSFQY VPVQLQGGAP WGFTLKGGLE HCEPLTVSKI EDGGKAALSQ KMRTGDELVN 

        70         80         90        100        110        120 
INGTPLYGSR QEALILIKGS FRILKLIVRR RNAPVSRPHS WHVAKLLEGC PEAATTMHFP 

       130        140        150        160        170        180 
SEAFSLSWHS GCNTSDVCVQ WCPLSRHCST EKSSSIGSME SLEQPGQATY ESHLLPIDQN 

       190        200        210        220        230        240 
MYPNQRDSAY SSFSASSNAS DCALSLRPEE PASTDCIMQG PGPTKAPSGR PNVAETSGGS 

       250        260        270        280        290        300 
RRTNGGHLTP SSQMSSRPQE GYQSGPAKAV RGPPQPPVRR DSLQASRAQL LNGEQRRASE 

       310        320        330        340        350        360 
PVVPLPQKEK LSLEPVLPAR NPNRFCCLSG HDQVTSEGHQ NCEFSQPPES SQQGSEHLLM 

       370        380        390        400        410        420 
QASTKAVGSP KACDRASSVD SNPLNEASAE LAKASFGRPP HLIGPTGHRH SAPEQLLASH 

       430        440        450        460        470        480 
LQHVHLDTRG SKGMELPPVQ DGHQWTLSPL HSSHKGKKSP CPPTGGTHDQ SSKERKTRQV 

       490        500        510        520        530        540 
DDRSLVLGHQ SQSSPPHGEA DGHPSEKGFL DPNRTSRAAS ELANQQPSAS GSLVQQATDC 

       550        560        570        580        590        600 
SSTTKAASGT EAGEEGDSEP KECSRMGGRR SGGTRGRSIQ NRRKSERFAT NLRNEIQRRK 

       610        620        630        640        650        660 
AQLQKSKGPL SQLCDTKEPV EETQEPPESP PLTASNTSLL SSCKKPPSPR DKLFNKSMML 

       670        680        690        700        710        720 
RARSSECLSQ APESHESRTG LEGRISPGQR PGQSSLGLNT WWKAPDPSSS DPEKAHAHCG 

       730        740        750        760        770        780 
VRGGHWRWSP EHNSQPLVAA AMEGPSNPGD NKELKASTAQ AGEDAILLPF ADRRKFFEES 

       790        800        810        820        830        840 
SKSLSTSHLP GLTTHSNKTF TQRPKPIDQN FQPMSSSCRE LRRHPMDQSY HSADQPYHAT 

       850        860        870        880        890        900 
DQSYHSMSPL QSETPTYSEC FASKGLENSM CCKPLHCGDF DYHRTCSYSC SVQGALVHDP 

       910        920        930        940        950        960 
CIYCSGEICP ALLKRNMMPN CYNCRCHHHQ CIRCSVCYHN PQHSALEDSS LAPGNTWKPR 

       970        980        990       1000       1010       1020 
KLTVQEFPGD KWNPITGNRK TSQSGREMAH SKTSFSWATP FHPCLENPAL DLSSYRAISS 

      1030       1040       1050       1060       1070       1080 
LDLLGDFKHA LKKSEETSVY EEGSSLASMP HPLRSRAFSE SHISLAPQST RAWGQHRREL 

      1090       1100       1110       1120       1130       1140 
FSKGDETQSD LLGARKKAFP PPRPPPPNWE KYRLFRAAQQ QKQQQQQQKQ QEEEEEEEEE 

      1150       1160       1170       1180       1190       1200 
EEEEEEEEEE EAEEEEEELP PQYFSSETSG SCALNPEEVL EQPQPLSFGH LEGSRQGSQS 

      1210       1220       1230       1240       1250       1260 
VPAEQESFAL HSSDFLPPIR GHLGSQPEQA QPPCYYGIGG LWRTSGQEAT ESAKQEFQHF 

      1270       1280       1290       1300       1310       1320 
SPPSGAPGIP TSYSAYYNIS VAKAELLNKL KDQPEMAEIG LGEEEVDHEL AQKKIQLIES 

      1330       1340       1350       1360       1370       1380 
ISRKLSVLRE AQRGLLEDIN ANSALGEEVE ANLKAVCKSN EFEKYHLFVG DLDKVVNLLL 

      1390       1400       1410       1420       1430       1440 
SLSGRLARVE NALNSIDSEA NQEKLVLIEK KQQLTGQLAD AKELKEHVDR REKLVFGMVS 

      1450       1460       1470       1480       1490 
RYLPQDQLQD YQHFVKMKSA LIIEQRELEE KIKLGEEQLK CLRESLLLGP SNF 

« Hide

Isoform 2 (SHAP-A) [UniParc].

Checksum: 8CDB0DC1B5552E43
Show »

FASTA1,377152,183

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. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., 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.
CCDSCCDS35277.1. [Q9ULL8-1]
RefSeqNP_065768.2. NM_020717.3. [Q9ULL8-1]
XP_006724653.1. XM_006724590.1. [Q9ULL8-2]
UniGeneHs.420541.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2EDPNMR-A6-92[»]
ProteinModelPortalQ9ULL8.
SMRQ9ULL8. Positions 8-93, 1310-1485.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000289292.

PTM databases

PhosphoSiteQ9ULL8.

Polymorphism databases

DMDM313104187.

Proteomic databases

PaxDbQ9ULL8.
PRIDEQ9ULL8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000289292; ENSP00000289292; ENSG00000158352. [Q9ULL8-1]
ENST00000376020; ENSP00000365188; ENSG00000158352. [Q9ULL8-1]
ENST00000460112; ENSP00000421450; ENSG00000158352. [Q9ULL8-2]
ENST00000596464; ENSP00000472785; ENSG00000268668. [Q9ULL8-2]
ENST00000600171; ENSP00000472407; ENSG00000268668. [Q9ULL8-1]
ENST00000601085; ENSP00000468998; ENSG00000268668. [Q9ULL8-1]
GeneID57477.
KEGGhsa:57477.
UCSCuc004dpe.2. human. [Q9ULL8-1]

Organism-specific databases

CTD57477.
GeneCardsGC0XM050351.
HGNCHGNC:29215. SHROOM4.
HPAHPA010565.
MIM300434. phenotype.
300579. gene.
neXtProtNX_Q9ULL8.
Orphanet85288. intellectual disability, X-linked, Stocco Dos Santos type.
PharmGKBPA147357321.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80303.
HOGENOMHOG000060301.
HOVERGENHBG108490.
InParanoidQ9ULL8.
OMAKGGLEHC.
OrthoDBEOG7QZG8T.
PhylomeDBQ9ULL8.
TreeFamTF333370.

Gene expression databases

BgeeQ9ULL8.
CleanExHS_SHROOM4.
GenevestigatorQ9ULL8.

Family and domain databases

Gene3D2.30.42.10. 1 hit.
InterProIPR014799. ASD2.
IPR001478. PDZ.
IPR027687. Shroom4.
IPR027685. Shroom_fam.
[Graphical view]
PANTHERPTHR15012. PTHR15012. 1 hit.
PTHR15012:SF31. PTHR15012:SF31. 1 hit.
PfamPF08687. ASD2. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
PROSITEPS51307. ASD2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9ULL8.
GenomeRNAi57477.
NextBio63723.
PROQ9ULL8.
SOURCESearch...

Entry information

Entry nameSHRM4_HUMAN
AccessionPrimary (citable) accession number: Q9ULL8
Secondary accession number(s): A7E2X9, D6RFW0, Q96LA0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 95 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM