Human Gene WASHC4 (uc001tld.3)
  Description: Homo sapiens WASHC4 (WASHC4), mRNA.
RefSeq Summary (NM_015275): This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014].
Transcript (Including UTRs)
   Position: hg19 chr12:105,501,492-105,562,906 Size: 61,415 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg19 chr12:105,501,579-105,560,709 Size: 59,131 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:105,501,492-105,562,906)mRNA (may differ from genome)Protein (1173 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMalacardsMGIneXtProt
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WASH7_HUMAN
DESCRIPTION: RecName: Full=WASH complex subunit 7;
FUNCTION: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting (By similarity).
SUBUNIT: Component of the WASH complex, composed of F-actin- capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin- capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53.
SIMILARITY: Belongs to the WASHS7 family.
SEQUENCE CAUTION: Sequence=AAI10851.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA82985.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: WASHC4
Diseases sorted by gene-association score: mental retardation, autosomal recessive 43* (1379), autosomal recessive non-syndromic intellectual disability* (58), penile cancer (9), phimosis (8), penile disease (6)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.85 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 448.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.8087-0.377 Picture PostScript Text
3' UTR -506.132197-0.230 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  Pfam Domains:
PF14744 - WASH complex subunit 7
PF14745 - WASH complex subunit 7, N-terminal
PF14746 - WASH complex subunit 7, C-terminal

ModBase Predicted Comparative 3D Structure on Q2M389
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007032 endosome organization
GO:0015031 protein transport
GO:0016197 endosomal transport

Cellular Component:
GO:0005654 nucleoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0071203 WASH complex
GO:0031083 BLOC-1 complex


-  Descriptions from all associated GenBank mRNAs
  LF208835 - JP 2014500723-A/16338: Polycomb-Associated Non-Coding RNAs.
AK001657 - Homo sapiens cDNA FLJ10795 fis, clone NT2RP4000638.
AB028956 - Homo sapiens KIAA1033 mRNA for KIAA1033 protein.
AK001728 - Homo sapiens cDNA FLJ10866 fis, clone NT2RP4001614.
BC110850 - Homo sapiens KIAA1033, mRNA (cDNA clone IMAGE:6044587), partial cds.
BC012556 - Homo sapiens KIAA1033, mRNA (cDNA clone IMAGE:4272340), with apparent retained intron.
BC104994 - Homo sapiens KIAA1033, mRNA (cDNA clone MGC:132654 IMAGE:8143997), complete cds.
BC104992 - Homo sapiens KIAA1033, mRNA (cDNA clone MGC:132652 IMAGE:8143995), complete cds.
BC143373 - Homo sapiens KIAA1033, mRNA (cDNA clone MGC:176895 IMAGE:9051878), complete cds.
AB385420 - Synthetic construct DNA, clone: pF1KA1033, Homo sapiens KIAA1033 gene for KIAA1033 protein, complete cds, without stop codon, in Flexi system.
AK023146 - Homo sapiens cDNA FLJ13084 fis, clone NT2RP3002063, highly similar to Homo sapiens mRNA for KIAA1033 protein.
AL137753 - Homo sapiens mRNA; cDNA DKFZp434K1412 (from clone DKFZp434K1412).
MA444412 - JP 2018138019-A/16338: Polycomb-Associated Non-Coding RNAs.
JD257533 - Sequence 238557 from Patent EP1572962.
JD548480 - Sequence 529504 from Patent EP1572962.
JD459157 - Sequence 440181 from Patent EP1572962.
LF323211 - JP 2014500723-A/130714: Polycomb-Associated Non-Coding RNAs.
LF323213 - JP 2014500723-A/130716: Polycomb-Associated Non-Coding RNAs.
MA558788 - JP 2018138019-A/130714: Polycomb-Associated Non-Coding RNAs.
MA558790 - JP 2018138019-A/130716: Polycomb-Associated Non-Coding RNAs.
LF323218 - JP 2014500723-A/130721: Polycomb-Associated Non-Coding RNAs.
AK026950 - Homo sapiens cDNA: FLJ23297 fis, clone HEP10710.
LF323221 - JP 2014500723-A/130724: Polycomb-Associated Non-Coding RNAs.
LF323222 - JP 2014500723-A/130725: Polycomb-Associated Non-Coding RNAs.
LF323223 - JP 2014500723-A/130726: Polycomb-Associated Non-Coding RNAs.
LF323226 - JP 2014500723-A/130729: Polycomb-Associated Non-Coding RNAs.
BC040936 - Homo sapiens KIAA1033, mRNA (cDNA clone IMAGE:5139212), partial cds.
LF323227 - JP 2014500723-A/130730: Polycomb-Associated Non-Coding RNAs.
LF323229 - JP 2014500723-A/130732: Polycomb-Associated Non-Coding RNAs.
LF323230 - JP 2014500723-A/130733: Polycomb-Associated Non-Coding RNAs.
LF323231 - JP 2014500723-A/130734: Polycomb-Associated Non-Coding RNAs.
LF323235 - JP 2014500723-A/130738: Polycomb-Associated Non-Coding RNAs.
BC031358 - Homo sapiens KIAA1033, mRNA (cDNA clone IMAGE:4992371), partial cds.
LF323236 - JP 2014500723-A/130739: Polycomb-Associated Non-Coding RNAs.
LF323237 - JP 2014500723-A/130740: Polycomb-Associated Non-Coding RNAs.
JD500088 - Sequence 481112 from Patent EP1572962.
JD524262 - Sequence 505286 from Patent EP1572962.
AK027218 - Homo sapiens cDNA: FLJ23565 fis, clone LNG10846.
JD268860 - Sequence 249884 from Patent EP1572962.
JD374738 - Sequence 355762 from Patent EP1572962.
JD344999 - Sequence 326023 from Patent EP1572962.
JD044185 - Sequence 25209 from Patent EP1572962.
LF323240 - JP 2014500723-A/130743: Polycomb-Associated Non-Coding RNAs.
JD022410 - Sequence 3434 from Patent EP1572962.
JD509021 - Sequence 490045 from Patent EP1572962.
JD113205 - Sequence 94229 from Patent EP1572962.
JD509210 - Sequence 490234 from Patent EP1572962.
AF075010 - Homo sapiens full length insert cDNA YI03D03.
JD258069 - Sequence 239093 from Patent EP1572962.
JD154729 - Sequence 135753 from Patent EP1572962.
JD510022 - Sequence 491046 from Patent EP1572962.
JD281238 - Sequence 262262 from Patent EP1572962.
JD535123 - Sequence 516147 from Patent EP1572962.
JD274495 - Sequence 255519 from Patent EP1572962.
MA558795 - JP 2018138019-A/130721: Polycomb-Associated Non-Coding RNAs.
MA558798 - JP 2018138019-A/130724: Polycomb-Associated Non-Coding RNAs.
MA558799 - JP 2018138019-A/130725: Polycomb-Associated Non-Coding RNAs.
MA558800 - JP 2018138019-A/130726: Polycomb-Associated Non-Coding RNAs.
MA558803 - JP 2018138019-A/130729: Polycomb-Associated Non-Coding RNAs.
MA558804 - JP 2018138019-A/130730: Polycomb-Associated Non-Coding RNAs.
MA558806 - JP 2018138019-A/130732: Polycomb-Associated Non-Coding RNAs.
MA558807 - JP 2018138019-A/130733: Polycomb-Associated Non-Coding RNAs.
MA558808 - JP 2018138019-A/130734: Polycomb-Associated Non-Coding RNAs.
MA558812 - JP 2018138019-A/130738: Polycomb-Associated Non-Coding RNAs.
MA558813 - JP 2018138019-A/130739: Polycomb-Associated Non-Coding RNAs.
MA558814 - JP 2018138019-A/130740: Polycomb-Associated Non-Coding RNAs.
MA558817 - JP 2018138019-A/130743: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1033, NM_015275, NP_056090, Q2M389, Q2NL83, Q8IW61, Q8N5W7, Q9NVD6, Q9UPW7, WASH7_HUMAN
UCSC ID: uc001tld.3
RefSeq Accession: NM_015275
Protein: Q2M389 (aka WASH7_HUMAN)
CCDS: CCDS41826.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015275.1
exon count: 33CDS single in 3' UTR: no RNA size: 5823
ORF size: 3522CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7123.00frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.