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Q9UF11 (PKHB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
Pleckstrin homology domain-containing family B member 1

Short name=PH domain-containing family B member 1
Alternative name(s):
Evectin-1
PH domain-containing protein in retina 1
Short name=PHRET1
Pleckstrin homology domain retinal protein 1
Gene names
Name:PLEKHB1
Synonyms:EVT1, KPL1, PHR1, PHRET1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length243 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for proper localization of retinogeniculate projections but not for eye-specific segregation By similarity.

Subunit structure

Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A By similarity. Binds transducins. Ref.1

Subcellular location

Membrane. Cytoplasm By similarity. Note: Localizes to the apical juxta-nuclear Golgi region of the cytoplasm By similarity. Membrane-associated. Highly expressed in the outer segments of photoreceptor cells, both in rods and cones. Ref.1

Tissue specificity

Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested. Ref.1

Sequence similarities

Contains 1 PH domain.

Ontologies

Keywords
   Cellular componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

phototransduction

Non-traceable author statement Ref.1. Source: UniProtKB

regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionsignal transducer activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UF11-1)

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: Q9UF11-2)

The sequence of this isoform differs from the canonical sequence as follows:
     131-165: Missing.
Isoform 3 (identifier: Q9UF11-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.
Isoform 4 (identifier: Q9UF11-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.
     131-165: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 243243Pleckstrin homology domain-containing family B member 1
PRO_0000053886

Regions

Domain21 – 128108PH

Natural variations

Alternative sequence1 – 1919Missing in isoform 3 and isoform 4.
VSP_009779
Alternative sequence131 – 16535Missing in isoform 2 and isoform 4.
VSP_009780

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: 8F60531721CF76CA

FASTA24327,186
        10         20         30         40         50         60 
MSPAAPVPPD SALESPFEEM ALVRGGWLWR QSSILRRWKR NWFALWLDGT LGYYHDETAQ 

        70         80         90        100        110        120 
DEEDRVLIHF NVRDIKIGPE CHDVQPPEGR SRDGLLTVNL REGGRLHLCA ETKDDALAWK 

       130        140        150        160        170        180 
TALLEANSTP APAGATVPPR SRRVCSKVRC VTRSWSPCKV ERRIWVRVYS PYQDYYEVVP 

       190        200        210        220        230        240 
PNAHEATYVR SYYGPPYAGP GVTHVIVRED PCYSAGAPLA MGMLAGAATG AALGSLMWSP 


CWF 

« Hide

Isoform 2 [UniParc].

Checksum: C11C12BF6E6FE4F0
Show »

FASTA20823,207
Isoform 3 [UniParc].

Checksum: CE38AF6D0DE093D1
Show »

FASTA22425,233
Isoform 4 [UniParc].

Checksum: 6A25AE30F80F7E07
Show »

FASTA18921,254

References

« Hide 'large scale' references
[1]"PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments."
Xu S., Ladak R., Swanson D.A., Soltyk A., Sun H., Ploder L., Vidgen D., Duncan A.M.V., Garami E., McInnes R.R., Valle D.
J. Biol. Chem. 274:35676-35685(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), INTERACTION WITH TRANSDUCIN, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
Tissue: Brain and Retina.
[2]"KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells."
Andrews K.L., Potdar P.D., Nettesheim P., Ostrowski L.E.
Exp. Lung Res. 26:257-271(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Brain, Retina and Tracheal epithelium.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
Tissue: Amygdala, Corpus callosum, Stomach and Subthalamic nucleus.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 4).
Tissue: Skin.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U89715 mRNA. Translation: AAF16675.1.
AF093249 mRNA. Translation: AAF16684.1.
AF101054 mRNA. Translation: AAF18572.1.
AF100612 mRNA. Translation: AAF18932.1.
AF081583 mRNA. Translation: AAF21786.1.
AK289620 mRNA. Translation: BAF82309.1.
AK289909 mRNA. Translation: BAF82598.1.
AK290109 mRNA. Translation: BAF82798.1.
AK301299 mRNA. Translation: BAH13452.1.
AK314748 mRNA. Translation: BAG37288.1.
CH471076 Genomic DNA. Translation: EAW74900.1.
CH471076 Genomic DNA. Translation: EAW74903.1.
CH471076 Genomic DNA. Translation: EAW74904.1.
BC008075 mRNA. Translation: AAH08075.1.
RefSeqNP_001123505.1. NM_001130033.1.
NP_001123506.1. NM_001130034.1.
NP_001123507.1. NM_001130035.1.
NP_001123508.1. NM_001130036.1.
NP_067023.1. NM_021200.2.
UniGeneHs.445489.

3D structure databases

ProteinModelPortalQ9UF11.
SMRQ9UF11. Positions 21-138.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121807. 1 interaction.
IntActQ9UF11. 1 interaction.
STRING9606.ENSP00000346127.

PTM databases

PhosphoSiteQ9UF11.

Polymorphism databases

DMDM48474683.

Proteomic databases

PaxDbQ9UF11.
PRIDEQ9UF11.

Protocols and materials databases

DNASU58473.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000227214; ENSP00000227214; ENSG00000021300. [Q9UF11-4]
ENST00000354190; ENSP00000346127; ENSG00000021300. [Q9UF11-1]
ENST00000398492; ENSP00000381505; ENSG00000021300. [Q9UF11-2]
ENST00000398494; ENSP00000381507; ENSG00000021300. [Q9UF11-3]
ENST00000535129; ENSP00000442616; ENSG00000021300. [Q9UF11-4]
GeneID58473.
KEGGhsa:58473.
UCSCuc001oua.3. human. [Q9UF11-1]
uc001oub.3. human. [Q9UF11-2]
uc001oud.3. human. [Q9UF11-4]

Organism-specific databases

CTD58473.
GeneCardsGC11P073357.
HGNCHGNC:19079. PLEKHB1.
MIM607651. gene.
neXtProtNX_Q9UF11.
PharmGKBPA38787.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44470.
HOVERGENHBG060487.
InParanoidQ9UF11.
OMADPCYSAG.
OrthoDBEOG7CZK73.
PhylomeDBQ9UF11.
TreeFamTF331787.

Gene expression databases

ArrayExpressQ9UF11.
BgeeQ9UF11.
CleanExHS_PLEKHB1.
GenevestigatorQ9UF11.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
SMARTSM00233. PH. 1 hit.
[Graphical view]
PROSITEPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPLEKHB1. human.
GenomeRNAi58473.
NextBio64900.
PROQ9UF11.
SOURCESearch...

Entry information

Entry namePKHB1_HUMAN
AccessionPrimary (citable) accession number: Q9UF11
Secondary accession number(s): A8K0Q5 expand/collapse secondary AC list , B2RBP1, B7Z716, Q9UBF5, Q9UI37, Q9UI44
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 99 of the entry and version 1 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

MIM cross-references

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

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM