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Protein

Pleckstrin homology domain-containing family H member 1

Gene

PLEKHH1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family H member 1
Short name:
PH domain-containing family H member 1
Gene namesi
Name:PLEKHH1
Synonyms:KIAA1200
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:17733. PLEKHH1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134879998.

Polymorphism and mutation databases

BioMutaiPLEKHH1.
DMDMi160418959.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13641364Pleckstrin homology domain-containing family H member 1PRO_0000310948Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei745 – 7451PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULM0.
MaxQBiQ9ULM0.
PaxDbiQ9ULM0.
PeptideAtlasiQ9ULM0.
PRIDEiQ9ULM0.

PTM databases

iPTMnetiQ9ULM0.
PhosphoSiteiQ9ULM0.

Expressioni

Gene expression databases

BgeeiQ9ULM0.
CleanExiHS_PLEKHH1.
ExpressionAtlasiQ9ULM0. baseline and differential.
GenevisibleiQ9ULM0. HS.

Organism-specific databases

HPAiHPA047707.

Interactioni

Protein-protein interaction databases

BioGridi121545. 2 interactions.
IntActiQ9ULM0. 2 interactions.
STRINGi9606.ENSP00000330278.

Structurei

3D structure databases

ProteinModelPortaliQ9ULM0.
SMRiQ9ULM0. Positions 581-668, 849-1278.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini578 – 67295PH 1PROSITE-ProRule annotationAdd
BLAST
Domaini687 – 796110PH 2PROSITE-ProRule annotationAdd
BLAST
Domaini832 – 986155MyTH4PROSITE-ProRule annotationAdd
BLAST
Domaini997 – 1333337FERMPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili28 – 169142Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi239 – 2424Poly-Ser

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation
Contains 1 MyTH4 domain.PROSITE-ProRule annotation
Contains 2 PH domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0248. Eukaryota.
ENOG410XPCT. LUCA.
GeneTreeiENSGT00780000121979.
HOGENOMiHOG000046075.
HOVERGENiHBG108258.
InParanoidiQ9ULM0.
OMAiEATFIMA.
OrthoDBiEOG72VH56.
PhylomeDBiQ9ULM0.
TreeFamiTF312866.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 2 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 3 hits.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULM0-1) [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
MAELKVEAPA SVDWQKRCLT LETQLFRFRL QASKIRELLA DKMQELEQRL
60 70 80 90 100
LEAEQRAENA ETQVGVMEEK VKLSNLKNVD SEGSLHRKYQ ELLKAIKGKD
110 120 130 140 150
ELISQLEAQL EKQKQMRAEE AKTVQEKAAK IKEWVTLKLA KLEMENQHLK
160 170 180 190 200
SHNQRLVEQV GSLQDALEAI QIAPSRKLLV PPYGAAEQDS VPSEPGIQPM
210 220 230 240 250
GQDSGSQAQG LKAAVLAPSP GALQSKDSVS EAASPLEDSS SSTVHSGETV
260 270 280 290 300
EAKPLQPHLG RESPPHQPCM KLLTFRCSSA SWGEGLVTAQ RGMLPGTKTS
310 320 330 340 350
AREGGPGSSL TLPKVRAPGT PRDSIQLAKR HHSQPQVGHG HFGRVVNIET
360 370 380 390 400
EAFSALHPSG LPELESRARS REEPEKMEME EPPPAGKNEE RESPKALGAE
410 420 430 440 450
LEEVELGNKP PTPPLHQFSS WESRIYAVAT SGMRLSDMSP RSNTACCASS
460 470 480 490 500
PPALVSPGSF SGLVYKNVTV PVYTALKGRA TQISNMPFMD ESSGSDDDCS
510 520 530 540 550
SQASFRISVP SSESRKTSGL GSPRAIKRGV SMSSLSSEGD YAIPPDACSL
560 570 580 590 600
DSDYSEPEHK LQRTSSYSTD GLGLGGESLE KSGYLLKMGS QVKTWKRRWF
610 620 630 640 650
VLRQGQIMYY KSPSDVIRKP QGQVDLNSRC QIVRGEGSQT FQLISEKKTY
660 670 680 690 700
YLTADSPSLL EEWIRVLQSL LKVQATGPPA LLRGGTKPTV KGWLTKVKHG
710 720 730 740 750
HSKVVWCALV GKIFYYYRSH EDKRPLGCLP VRDAHIEEVD RSCDSDEDYE
760 770 780 790 800
AGGTRRLLSS HCTLVIHPTE HSPTYLLIGT KHEKDTWLYH LTVAAGGSSA
810 820 830 840 850
KVGTAYEQLI GKLMDGEGDP DSPLWRHPML CYSKDGLYAS LTTLPSEALQ
860 870 880 890 900
TEALKLFKSC QLFINVPVEA ASVDYHVSLA QTALQVCLVH PELQSEIYCQ
910 920 930 940 950
LMKQTSCRPP QKYSLMQCWQ LLALCAPLFL PQHHFLWYVK QQLQRHADPR
960 970 980 990 1000
SETGQYATYC QRAVERTLRT GEREARPSRM EVVSILLRNP FHHSLPFSIP
1010 1020 1030 1040 1050
VHFTNGTYHV VGFDGSSTVD EFLQRLNQEI GMRKPSHSGF ALFTDDPSGR
1060 1070 1080 1090 1100
DLEHCLQGSV KICDAISKWE QAMKELHPGK SEGGTRVVKL MYKNRLYFRS
1110 1120 1130 1140 1150
QVKGETDRER LLLASQTSRE IVAGRFPINK ELALEMAALM AQVEYGDLEK
1160 1170 1180 1190 1200
PALPGPGGTS PAKAQHLLQQ VLDRFHPRRY RHGAPAEQLR HLADMLTTKW
1210 1220 1230 1240 1250
ATLQGCSPPE CIRIYLTVAR KWPFFGAKLF AAQPAQLSSK ENALVWIAVN
1260 1270 1280 1290 1300
EDGVSILDHN TMQVHITYPY SSVTTFGGCR DDFMLVIRSI PDKSSGKSHI
1310 1320 1330 1340 1350
EKLIFRMAAP KIAEATFIMA SYMNHCTTTV NPPTNPPGAC QLWELDGRQF
1360
FSSVSCATKG PTLL
Length:1,364
Mass (Da):151,232
Last modified:November 13, 2007 - v2
Checksum:i695F4B1A05566F6C
GO
Isoform 2 (identifier: Q9ULM0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-485: Missing.
     724-754: RPLGCLPVRDAHIEEVDRSCDSDEDYEAGGT → VLLSLLTIPTLLLPPKHMTATLCPDESPYPT
     755-1364: Missing.

Note: No experimental confirmation available.
Show »
Length:269
Mass (Da):29,849
Checksum:iFEB6C418EA5ADA6D
GO

Sequence cautioni

The sequence BAA86514.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751N → S.
Corresponds to variant rs7150973 [ dbSNP | Ensembl ].
VAR_037094
Natural varianti113 – 1131Q → L.
Corresponds to variant rs3825723 [ dbSNP | Ensembl ].
VAR_037095
Natural varianti322 – 3221R → Q.
Corresponds to variant rs2236235 [ dbSNP | Ensembl ].
VAR_037096
Natural varianti430 – 4301T → A.
Corresponds to variant rs3825725 [ dbSNP | Ensembl ].
VAR_037097
Natural varianti438 – 4381M → V.
Corresponds to variant rs17104428 [ dbSNP | Ensembl ].
VAR_037098
Natural varianti735 – 7351H → R.
Corresponds to variant rs11158685 [ dbSNP | Ensembl ].
VAR_037099

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 485485Missing in isoform 2. 1 PublicationVSP_029347Add
BLAST
Alternative sequencei724 – 75431RPLGC…EAGGT → VLLSLLTIPTLLLPPKHMTA TLCPDESPYPT in isoform 2. 1 PublicationVSP_029348Add
BLAST
Alternative sequencei755 – 1364610Missing in isoform 2. 1 PublicationVSP_029349Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033026 mRNA. Translation: BAA86514.1. Different initiation.
AK123305 mRNA. No translation available.
BC014159 mRNA. Translation: AAH14159.1.
BC146787 mRNA. Translation: AAI46788.1.
CCDSiCCDS45128.1. [Q9ULM0-1]
RefSeqiNP_065766.1. NM_020715.2. [Q9ULM0-1]
UniGeneiHs.594236.

Genome annotation databases

EnsembliENST00000329153; ENSP00000330278; ENSG00000054690. [Q9ULM0-1]
GeneIDi57475.
KEGGihsa:57475.
UCSCiuc001xjl.2. human. [Q9ULM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033026 mRNA. Translation: BAA86514.1. Different initiation.
AK123305 mRNA. No translation available.
BC014159 mRNA. Translation: AAH14159.1.
BC146787 mRNA. Translation: AAI46788.1.
CCDSiCCDS45128.1. [Q9ULM0-1]
RefSeqiNP_065766.1. NM_020715.2. [Q9ULM0-1]
UniGeneiHs.594236.

3D structure databases

ProteinModelPortaliQ9ULM0.
SMRiQ9ULM0. Positions 581-668, 849-1278.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121545. 2 interactions.
IntActiQ9ULM0. 2 interactions.
STRINGi9606.ENSP00000330278.

PTM databases

iPTMnetiQ9ULM0.
PhosphoSiteiQ9ULM0.

Polymorphism and mutation databases

BioMutaiPLEKHH1.
DMDMi160418959.

Proteomic databases

EPDiQ9ULM0.
MaxQBiQ9ULM0.
PaxDbiQ9ULM0.
PeptideAtlasiQ9ULM0.
PRIDEiQ9ULM0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329153; ENSP00000330278; ENSG00000054690. [Q9ULM0-1]
GeneIDi57475.
KEGGihsa:57475.
UCSCiuc001xjl.2. human. [Q9ULM0-1]

Organism-specific databases

CTDi57475.
GeneCardsiPLEKHH1.
HGNCiHGNC:17733. PLEKHH1.
HPAiHPA047707.
neXtProtiNX_Q9ULM0.
PharmGKBiPA134879998.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0248. Eukaryota.
ENOG410XPCT. LUCA.
GeneTreeiENSGT00780000121979.
HOGENOMiHOG000046075.
HOVERGENiHBG108258.
InParanoidiQ9ULM0.
OMAiEATFIMA.
OrthoDBiEOG72VH56.
PhylomeDBiQ9ULM0.
TreeFamiTF312866.

Miscellaneous databases

ChiTaRSiPLEKHH1. human.
GenomeRNAii57475.
PROiQ9ULM0.

Gene expression databases

BgeeiQ9ULM0.
CleanExiHS_PLEKHH1.
ExpressionAtlasiQ9ULM0. baseline and differential.
GenevisibleiQ9ULM0. HS.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 2 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 3 hits.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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. "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 2).
    Tissue: Amygdala.
  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).
    Tissue: Placenta.

Entry informationi

Entry nameiPKHH1_HUMAN
AccessioniPrimary (citable) accession number: Q9ULM0
Secondary accession number(s): A6H8X6, Q6PJL4, Q6ZWC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: July 6, 2016
This is version 113 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 14
    Human chromosome 14: 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.