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Protein

Pleckstrin homology domain-containing family H member 3

Gene

PLEKHH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family H member 3
Short name:
PH domain-containing family H member 3
Gene namesi
Name:PLEKHH3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26105. PLEKHH3.

Subcellular locationi

GO - Cellular componenti

  • cytoskeleton Source: InterPro
  • extracellular space Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485577.

Polymorphism and mutation databases

BioMutaiPLEKHH3.
DMDMi296452865.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 793775Pleckstrin homology domain-containing family H member 3PRO_0000311108Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei30 – 301PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ7Z736.
PaxDbiQ7Z736.
PRIDEiQ7Z736.

PTM databases

iPTMnetiQ7Z736.
PhosphoSiteiQ7Z736.

Expressioni

Gene expression databases

BgeeiQ7Z736.
CleanExiHS_PLEKHH3.
ExpressionAtlasiQ7Z736. baseline and differential.
GenevisibleiQ7Z736. HS.

Organism-specific databases

HPAiHPA046234.

Interactioni

Protein-protein interaction databases

BioGridi123053. 13 interactions.
IntActiQ7Z736. 1 interaction.
MINTiMINT-7970930.
STRINGi9606.ENSP00000468678.

Structurei

3D structure databases

ProteinModelPortaliQ7Z736.
SMRiQ7Z736. Positions 204-748.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini95 – 199105PHPROSITE-ProRule annotationAdd
BLAST
Domaini237 – 399163MyTH4PROSITE-ProRule annotationAdd
BLAST
Domaini404 – 754351FERMPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi757 – 7604Poly-Ser

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation
Contains 1 MyTH4 domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410ITZM. Eukaryota.
ENOG410Z45E. LUCA.
GeneTreeiENSGT00840000129697.
HOGENOMiHOG000115561.
HOVERGENiHBG052553.
InParanoidiQ7Z736.
OMAiCTLYEVD.
OrthoDBiEOG7JMGCW.
PhylomeDBiQ7Z736.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR019749. Band_41_domain.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000159. RA_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00788. RA. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z736-1) [UniParc]FASTAAdd to basket

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
MPLPGGLWWL LCCRRGFTLL HRDYGDGELS GDGDEDEDEE TFELRTPSPA
60 70 80 90 100
GGGRGPLEVT LTQPVRSGPV SNRLQSWEET WSLIPEKGLP EDDPDIVVKG
110 120 130 140 150
WLYREPRGGG ARPWLPPRRA WFVLTRDSLD QFSSSGKGAR RLGSLVLTSL
160 170 180 190 200
CSVTGPERRR KETGLWSVTV SGRKHSVRLC SPRQAEAERW GVALREVIAS
210 220 230 240 250
KAPLETPTQL LLRDIQESCG DPEAVALIYL RNPILRHTSG ALYAPLLPLP
260 270 280 290 300
YGVSAPGPGY APLREEAVRL FLALQALEGA RRPGPLMQGV LQTCRDLPAL
310 320 330 340 350
RDELFLQLAK QTSGPAGPPG LPATQDPAAL RYWQLLTCMS CTFRPGGAVR
360 370 380 390 400
GHLLGHLERT EQALPDSELA EYARFIRKAL GRTRGRELVP SLAEISALSQ
410 420 430 440 450
RQELLCTVHC PGAGACAVAI DSHTTAGEVA RELVGRLGLA RSRNAFALYE
460 470 480 490 500
QRGAQERALA GGTLVADVLT RFENLAAEEA GLEDSPDSGW RLCLRLHGPL
510 520 530 540 550
HPEGLSPDGH ELPFLFEQAH ALLLRGRPPP PDDTLRALAA LRLQSLQRDF
560 570 580 590 600
SPRVPLPRLD RLLPPPAPPR EDPPRPTPRP PPSAALLAGA LWSPGLAKRR
610 620 630 640 650
AERARRGGAG RTAGSIAREG GGGAGTAAAV LGGWKRLRGM GRAEAMAAYL
660 670 680 690 700
ALAAQCPGFG AARYDVLELS TEPGRGAPQK LCLGLGAKAM SLSRPGETEP
710 720 730 740 750
IHSVSYGHVA ACQLMGPHTL ALRVGESQLL LQSPQVEEIM QLVNAYLANP
760 770 780 790
SPERPCSSSS PPCQDLPDTS PPSQRPGLDE PQGQSGCLGQ LQD
Length:793
Mass (Da):85,317
Last modified:May 18, 2010 - v2
Checksum:i76A85A090F84C4C5
GO
Isoform 2 (identifier: Q7Z736-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-474: RFEN → S
     672-736: EPGRGAPQKL...SQLLLQSPQV → VRGRREKGTL...QPPPHTCCES
     737-793: Missing.

Note: No experimental confirmation available.
Show »
Length:733
Mass (Da):79,030
Checksum:i2BC16828BA48A13F
GO
Isoform 3 (identifier: Q7Z736-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     664-705: YDVLELSTEP...GETEPIHSVS → SLVGVLHRSC...SAMAMWPPAS
     706-793: Missing.

Note: No experimental confirmation available.
Show »
Length:705
Mass (Da):76,078
Checksum:i59B3C7223E8F7726
GO
Isoform 4 (identifier: Q7Z736-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-474: RFEN → S
     514-531: FLFEQAHALLLRGRPPPP → RGHDFPPACSLGQDCSEI
     532-705: Missing.

Note: No experimental confirmation available.
Show »
Length:616
Mass (Da):66,686
Checksum:iC0CA155F3EF4279D
GO

Sequence cautioni

The sequence BAD92176.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171P → L in BAB14956 (PubMed:14702039).Curated
Sequence conflicti123 – 1231V → A in BAB14956 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti547 – 5471Q → H.2 Publications
Corresponds to variant rs8071056 [ dbSNP | Ensembl ].
VAR_061520

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei471 – 4744RFEN → S in isoform 2 and isoform 4. 2 PublicationsVSP_029392
Alternative sequencei514 – 53118FLFEQ…RPPPP → RGHDFPPACSLGQDCSEI in isoform 4. 1 PublicationVSP_029393Add
BLAST
Alternative sequencei532 – 705174Missing in isoform 4. 1 PublicationVSP_029394Add
BLAST
Alternative sequencei664 – 70542YDVLE…IHSVS → SLVGVLHRSCAWAWEPRPCP SPGQGRRSPSTVSAMAMWPP AS in isoform 3. 1 PublicationVSP_029395Add
BLAST
Alternative sequencei672 – 73665EPGRG…QSPQV → VRGRREKGTLAAQAPHLCPR ATGPTECHVIPHIQNSYPSQ TPGVTSPWALTSLEPQPPPH TCCES in isoform 2. 1 PublicationVSP_029396Add
BLAST
Alternative sequencei706 – 79388Missing in isoform 3. 1 PublicationVSP_029397Add
BLAST
Alternative sequencei737 – 79357Missing in isoform 2. 1 PublicationVSP_029398Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024672 mRNA. Translation: BAB14956.1.
AB208939 mRNA. Translation: BAD92176.1. Different initiation.
AC067852 Genomic DNA. No translation available.
BC016062 mRNA. Translation: AAH16062.1.
BC052978 mRNA. Translation: AAH52978.1.
AL137584 mRNA. Translation: CAB70826.1.
CCDSiCCDS11434.1. [Q7Z736-1]
PIRiT46295.
RefSeqiNP_079203.3. NM_024927.4.
UniGeneiHs.632251.

Genome annotation databases

EnsembliENST00000591022; ENSP00000468678; ENSG00000068137. [Q7Z736-1]
ENST00000591196; ENSP00000467824; ENSG00000068137. [Q7Z736-3]
GeneIDi79990.
KEGGihsa:79990.
UCSCiuc002iau.5. human. [Q7Z736-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024672 mRNA. Translation: BAB14956.1.
AB208939 mRNA. Translation: BAD92176.1. Different initiation.
AC067852 Genomic DNA. No translation available.
BC016062 mRNA. Translation: AAH16062.1.
BC052978 mRNA. Translation: AAH52978.1.
AL137584 mRNA. Translation: CAB70826.1.
CCDSiCCDS11434.1. [Q7Z736-1]
PIRiT46295.
RefSeqiNP_079203.3. NM_024927.4.
UniGeneiHs.632251.

3D structure databases

ProteinModelPortaliQ7Z736.
SMRiQ7Z736. Positions 204-748.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123053. 13 interactions.
IntActiQ7Z736. 1 interaction.
MINTiMINT-7970930.
STRINGi9606.ENSP00000468678.

PTM databases

iPTMnetiQ7Z736.
PhosphoSiteiQ7Z736.

Polymorphism and mutation databases

BioMutaiPLEKHH3.
DMDMi296452865.

Proteomic databases

MaxQBiQ7Z736.
PaxDbiQ7Z736.
PRIDEiQ7Z736.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000591022; ENSP00000468678; ENSG00000068137. [Q7Z736-1]
ENST00000591196; ENSP00000467824; ENSG00000068137. [Q7Z736-3]
GeneIDi79990.
KEGGihsa:79990.
UCSCiuc002iau.5. human. [Q7Z736-1]

Organism-specific databases

CTDi79990.
GeneCardsiPLEKHH3.
HGNCiHGNC:26105. PLEKHH3.
HPAiHPA046234.
neXtProtiNX_Q7Z736.
PharmGKBiPA143485577.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITZM. Eukaryota.
ENOG410Z45E. LUCA.
GeneTreeiENSGT00840000129697.
HOGENOMiHOG000115561.
HOVERGENiHBG052553.
InParanoidiQ7Z736.
OMAiCTLYEVD.
OrthoDBiEOG7JMGCW.
PhylomeDBiQ7Z736.

Miscellaneous databases

ChiTaRSiPLEKHH3. human.
GenomeRNAii79990.
PROiQ7Z736.

Gene expression databases

BgeeiQ7Z736.
CleanExiHS_PLEKHH3.
ExpressionAtlasiQ7Z736. baseline and differential.
GenevisibleiQ7Z736. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR019749. Band_41_domain.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000159. RA_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00788. RA. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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.
    , 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] (ISOFORM 4).
  2. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT HIS-547.
    Tissue: Brain.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORMS 1 AND 3), VARIANT HIS-547.
    Tissue: Pancreas and Uterus.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 593-793.
    Tissue: Testis.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiPKHH3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z736
Secondary accession number(s): C9JQ76
, Q59H20, Q96B28, Q9H7D6, Q9NT18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: May 18, 2010
Last modified: June 8, 2016
This is version 110 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. 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.