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Protein

Pleckstrin homology domain-containing family S member 1

Gene

PLEKHS1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family S member 1
Short name:
PH domain-containing family S member 1
Alternative name(s):
Epididymis luminal protein 185
Short name:
hEL185
Gene namesi
Name:PLEKHS1
Synonyms:C10orf81
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:26285. PLEKHS1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134886856.

Polymorphism and mutation databases

BioMutaiPLEKHS1.
DMDMi172045921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 462462Pleckstrin homology domain-containing family S member 1PRO_0000320675Add
BLAST

Proteomic databases

MaxQBiQ5SXH7.
PaxDbiQ5SXH7.
PRIDEiQ5SXH7.

PTM databases

iPTMnetiQ5SXH7.
PhosphoSiteiQ5SXH7.

Expressioni

Gene expression databases

BgeeiQ5SXH7.
CleanExiHS_C10orf81.
ExpressionAtlasiQ5SXH7. baseline and differential.
GenevisibleiQ5SXH7. HS.

Organism-specific databases

HPAiHPA037583.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GRB2P629933EBI-10691507,EBI-401755
PIK3R3Q925695EBI-10691507,EBI-79893

Protein-protein interaction databases

BioGridi123020. 3 interactions.
IntActiQ5SXH7. 2 interactions.
STRINGi9606.ENSP00000358316.

Structurei

3D structure databases

ProteinModelPortaliQ5SXH7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini14 – 129116PHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410II4G. Eukaryota.
ENOG410YTCM. LUCA.
GeneTreeiENSGT00390000006729.
HOVERGENiHBG107692.
InParanoidiQ5SXH7.
OMAiTNETETH.
OrthoDBiEOG7PCJGR.
PhylomeDBiQ5SXH7.
TreeFamiTF334193.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5SXH7-1) [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
MAGGKQFTFS YENEVCKQDY FIKSPPSQLF SSVTSWKKRF FILSKAGEKS
60 70 80 90 100
FSLSYYKDHH HRGSIEIDQN SSVEVGISSQ EKMQSVQKMF KCHPDEVMSI
110 120 130 140 150
RTTNREYFLI GHDREKIKDW VSFMSSFRQD IKATQQNTEE ELSLGNKRTL
160 170 180 190 200
FYSSPLLGPS STSEAVGSSS PRNGLQDKHL MEQSSPGFRQ THLQDLSEAT
210 220 230 240 250
QDVKEENHYL TPRSVLLELD NIIASSDSGE SIETDGPDQV SGRIECHYEP
260 270 280 290 300
MESYFFKETS HESVDSSKEE PQTLPETQDG DLHLQEQGSG IDWCLSPADV
310 320 330 340 350
EAQTTNDQKG SASLTVVQLS ILINNIPDES QVEKLNVFLS PPDVINYLAL
360 370 380 390 400
TEATGRICVS QWEGPPRLGC IFCHGDHLLA VNDLKPQSLE EVSLFLTRSI
410 420 430 440 450
QKEKLKLTIG RIPNSETFHA ASCMCPSKCQ SAAPSQLDKP RLNRAPKRSP
460
AIKKSQQKGA RE
Length:462
Mass (Da):51,839
Last modified:February 26, 2008 - v2
Checksum:iCA338771B36648DB
GO
Isoform 2 (identifier: Q5SXH7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     311-324: Missing.

Show »
Length:448
Mass (Da):50,399
Checksum:iCB25A7AC749D2BCF
GO
Isoform 3 (identifier: Q5SXH7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-82: Missing.
     311-324: Missing.

Show »
Length:366
Mass (Da):40,998
Checksum:i18CF4A57A5230B4F
GO
Isoform 4 (identifier: Q5SXH7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MAG → MEPKPQKSP
     358-462: Missing.

Show »
Length:363
Mass (Da):40,982
Checksum:iABA9FC0A5819B72A
GO
Isoform 5 (identifier: Q5SXH7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     311-324: Missing.
     404-462: KLKLTIGRIP...KKSQQKGARE → DSFRILSYQV...NDGAGCWIIK

Show »
Length:465
Mass (Da):52,535
Checksum:iFDA38999358B350F
GO

Sequence cautioni

The sequence AAH36365.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15687.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI12642.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI12643.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI12644.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti366 – 3661P → R in AAH36365 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti337 – 3371V → I.
Corresponds to variant rs34024791 [ dbSNP | Ensembl ].
VAR_039275

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8282Missing in isoform 3. 1 PublicationVSP_031727Add
BLAST
Alternative sequencei1 – 33MAG → MEPKPQKSP in isoform 4. 1 PublicationVSP_031728
Alternative sequencei311 – 32414Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsVSP_031729Add
BLAST
Alternative sequencei358 – 462105Missing in isoform 4. 1 PublicationVSP_031730Add
BLAST
Alternative sequencei404 – 46259KLKLT…KGARE → DSFRILSYQVAFGEGTELRD RAPGFRTSDRHDVAKRACME SDWCRDSKTAPSTNLCLSFL FCKIMTNDGAGCWIIK in isoform 5. 2 PublicationsVSP_031731Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ236306 mRNA. Translation: ACI45238.1.
AK027190 mRNA. Translation: BAB15687.1. Different initiation.
AK126354 mRNA. Translation: BAG54312.1.
AK128811 mRNA. Translation: BAC87618.1.
AK292867 mRNA. Translation: BAF85556.1.
AL592546 Genomic DNA. Translation: CAI12642.1. Sequence problems.
AL592546 Genomic DNA. Translation: CAI12644.1. Sequence problems.
AL592546 Genomic DNA. Translation: CAI12645.1.
AL592546 Genomic DNA. Translation: CAI12643.1. Sequence problems.
BC036365 mRNA. Translation: AAH36365.2. Different initiation.
BC037870 mRNA. Translation: AAH37870.1.
CCDSiCCDS53580.1. [Q5SXH7-5]
CCDS53581.1. [Q5SXH7-3]
CCDS7583.1. [Q5SXH7-4]
RefSeqiNP_001180363.1. NM_001193434.1. [Q5SXH7-3]
NP_001180364.1. NM_001193435.1. [Q5SXH7-3]
NP_079165.3. NM_024889.4. [Q5SXH7-4]
NP_872407.1. NM_182601.1. [Q5SXH7-5]
UniGeneiHs.228320.

Genome annotation databases

EnsembliENST00000361048; ENSP00000354332; ENSG00000148735. [Q5SXH7-4]
ENST00000369310; ENSP00000358316; ENSG00000148735. [Q5SXH7-5]
ENST00000369312; ENSP00000358318; ENSG00000148735. [Q5SXH7-3]
ENST00000619563; ENSP00000483759; ENSG00000148735. [Q5SXH7-3]
GeneIDi79949.
KEGGihsa:79949.
UCSCiuc001lar.3. human. [Q5SXH7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ236306 mRNA. Translation: ACI45238.1.
AK027190 mRNA. Translation: BAB15687.1. Different initiation.
AK126354 mRNA. Translation: BAG54312.1.
AK128811 mRNA. Translation: BAC87618.1.
AK292867 mRNA. Translation: BAF85556.1.
AL592546 Genomic DNA. Translation: CAI12642.1. Sequence problems.
AL592546 Genomic DNA. Translation: CAI12644.1. Sequence problems.
AL592546 Genomic DNA. Translation: CAI12645.1.
AL592546 Genomic DNA. Translation: CAI12643.1. Sequence problems.
BC036365 mRNA. Translation: AAH36365.2. Different initiation.
BC037870 mRNA. Translation: AAH37870.1.
CCDSiCCDS53580.1. [Q5SXH7-5]
CCDS53581.1. [Q5SXH7-3]
CCDS7583.1. [Q5SXH7-4]
RefSeqiNP_001180363.1. NM_001193434.1. [Q5SXH7-3]
NP_001180364.1. NM_001193435.1. [Q5SXH7-3]
NP_079165.3. NM_024889.4. [Q5SXH7-4]
NP_872407.1. NM_182601.1. [Q5SXH7-5]
UniGeneiHs.228320.

3D structure databases

ProteinModelPortaliQ5SXH7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123020. 3 interactions.
IntActiQ5SXH7. 2 interactions.
STRINGi9606.ENSP00000358316.

PTM databases

iPTMnetiQ5SXH7.
PhosphoSiteiQ5SXH7.

Polymorphism and mutation databases

BioMutaiPLEKHS1.
DMDMi172045921.

Proteomic databases

MaxQBiQ5SXH7.
PaxDbiQ5SXH7.
PRIDEiQ5SXH7.

Protocols and materials databases

DNASUi79949.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361048; ENSP00000354332; ENSG00000148735. [Q5SXH7-4]
ENST00000369310; ENSP00000358316; ENSG00000148735. [Q5SXH7-5]
ENST00000369312; ENSP00000358318; ENSG00000148735. [Q5SXH7-3]
ENST00000619563; ENSP00000483759; ENSG00000148735. [Q5SXH7-3]
GeneIDi79949.
KEGGihsa:79949.
UCSCiuc001lar.3. human. [Q5SXH7-1]

Organism-specific databases

CTDi79949.
GeneCardsiPLEKHS1.
H-InvDBHIX0201482.
HGNCiHGNC:26285. PLEKHS1.
HPAiHPA037583.
neXtProtiNX_Q5SXH7.
PharmGKBiPA134886856.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II4G. Eukaryota.
ENOG410YTCM. LUCA.
GeneTreeiENSGT00390000006729.
HOVERGENiHBG107692.
InParanoidiQ5SXH7.
OMAiTNETETH.
OrthoDBiEOG7PCJGR.
PhylomeDBiQ5SXH7.
TreeFamiTF334193.

Miscellaneous databases

GenomeRNAii79949.
PROiQ5SXH7.

Gene expression databases

BgeeiQ5SXH7.
CleanExiHS_C10orf81.
ExpressionAtlasiQ5SXH7. baseline and differential.
GenevisibleiQ5SXH7. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Li J., Wang H.
    Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
  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] (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-462 (ISOFORM 2).
    Tissue: Lung, Small intestine and Trachea.
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [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] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 178-462 (ISOFORM 2).
    Tissue: Testis.

Entry informationi

Entry nameiPKHS1_HUMAN
AccessioniPrimary (citable) accession number: Q5SXH7
Secondary accession number(s): A8KA02
, B3KX00, B6EDE1, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 8, 2016
This is version 104 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 10
    Human chromosome 10: 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.