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Protein

Rhotekin-2

Gene

RTKN2

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

Functioni

May play an important role in lymphopoiesis.1 Publication

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Rhotekin-2
Alternative name(s):
Pleckstrin homology domain-containing family K member 1
Short name:
PH domain-containing family K member 1
Gene namesi
Name:RTKN2
Synonyms:PLEKHK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000182010.10.
HGNCiHGNC:19364. RTKN2.

Pathology & Biotechi

Organism-specific databases

DisGeNETi219790.
OpenTargetsiENSG00000182010.
PharmGKBiPA162402276.

Polymorphism and mutation databases

BioMutaiRTKN2.
DMDMi74750788.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003093261 – 609Rhotekin-2Add BLAST609

Proteomic databases

EPDiQ8IZC4.
MaxQBiQ8IZC4.
PaxDbiQ8IZC4.
PeptideAtlasiQ8IZC4.
PRIDEiQ8IZC4.

PTM databases

iPTMnetiQ8IZC4.
PhosphoSitePlusiQ8IZC4.

Expressioni

Tissue specificityi

Expressed in lymphocytes, CD4 positive T-cells and bone marrow-derived cells. Also expressed in lung, colon, thymus and brain.1 Publication

Inductioni

Up-regulated in cells resistant to 25-hydroxy cholesterol (25-OHC). Down-regulated in lymphocytes activated by treatment with phytohemagglutinin (PHA).2 Publications

Gene expression databases

BgeeiENSG00000182010.
CleanExiHS_RTKN2.
ExpressionAtlasiQ8IZC4. baseline and differential.
GenevisibleiQ8IZC4. HS.

Organism-specific databases

HPAiHPA037946.
HPA038446.

Interactioni

Protein-protein interaction databases

BioGridi128576. 5 interactors.
IntActiQ8IZC4. 4 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ8IZC4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini286 – 393PHPROSITE-ProRule annotationAdd BLAST108

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili56 – 91Sequence analysisAdd BLAST36

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIHF. Eukaryota.
ENOG410ZX8Y. LUCA.
GeneTreeiENSGT00390000000104.
HOGENOMiHOG000015094.
HOVERGENiHBG059480.
InParanoidiQ8IZC4.
OMAiCTEESSI.
OrthoDBiEOG091G09OJ.
PhylomeDBiQ8IZC4.
TreeFamiTF331476.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR012966. AHD.
IPR011072. HR1_rho-bd.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR030469. RTKN2.
PANTHERiPTHR21538:SF21. PTHR21538:SF21. 1 hit.
PfamiView protein in Pfam
PF08174. Anillin. 1 hit.
PF00169. PH. 1 hit.
SMARTiView protein in SMART
SM00742. Hr1. 1 hit.
SM00233. PH. 1 hit.
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS50003. PH_DOMAIN. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZC4-1) [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
MEGPSLRGPA LRLAGLPTQQ DCNIQEKIDL EIRMREGIWK LLSLSTQKDQ
60 70 80 90 100
VLHAVKNLMV CNARLMAYTS ELQKLEEQIA NQTGRCDVKF ESKERTACKG
110 120 130 140 150
KIAISDIRIP LMWKDSDHFS NKERSRRYAI FCLFKMGANV FDTDVVNVDK
160 170 180 190 200
TITDICFENV TIFNEAGPDF QIKVEVYSCC TEESSITNTP KKLAKKLKTS
210 220 230 240 250
ISKATGKKIS SVLQEEDDEM CLLLSSAVFG VKYNLLAHTT LTLESAEDSF
260 270 280 290 300
KTHNLSINGN EESSFWLPLY GNMCCRLVAQ PACMAEDAFA GFLNQQQMVE
310 320 330 340 350
GLISWRRLYC VLRGGKLYCF YSPEEIEAKV EPALVVPINK ETRIRAMDKD
360 370 380 390 400
AKKRIHNFSV INPVPGQAIT QIFAVDNRED LQKWMEAFWQ HFFDLSQWKH
410 420 430 440 450
CCEELMKIEI MSPRKPPLFL TKEATSVYHD MSIDSPMKLE SLTDIIQKKI
460 470 480 490 500
EETNGQFLIG QHEESLPPPW ATLFDGNHQM VIQKKVLYPA SEPLHDEKGK
510 520 530 540 550
KRQAPLPPSD KLPFSLKSQS NTDQLVKDNW GKTSVSQTSS LDTKLSTLMH
560 570 580 590 600
HLQKPMAAPR KLLPARRNRL SDGEHTDTKT NFEAKPVPAP RQKSIKDILD

PRSWLQAQV
Length:609
Mass (Da):69,304
Last modified:March 1, 2003 - v1
Checksum:i928E5F197EBBDBE4
GO
Isoform 2 (identifier: Q8IZC4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     340-340: K → KSLVLFEDSLEGIQLAISQSFK
     486-506: VLYPASEPLHDEKGKKRQAPL → NNSNQLHNLQKLPATSKFLFT
     507-609: Missing.

Note: No experimental confirmation available.
Show »
Length:527
Mass (Da):60,083
Checksum:i4C007BE107D3B519
GO
Isoform 3 (identifier: Q8IZC4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-163: F → L
     164-609: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):18,655
Checksum:iD3A8CC8BFA920BC9
GO

Sequence cautioni

Q8IZC4: The sequence BAC04837 differs from that shown. Reason: Erroneous initiation.Curated
Q8IZC4: The sequence BC048002 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050516101K → T. Corresponds to variant dbSNP:rs3765004Ensembl.1
Natural variantiVAR_050517462H → R2 PublicationsCorresponds to variant dbSNP:rs3125734Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029135163F → L in isoform 3. 1 Publication1
Alternative sequenceiVSP_029136164 – 609Missing in isoform 3. 1 PublicationAdd BLAST446
Alternative sequenceiVSP_029137340K → KSLVLFEDSLEGIQLAISQS FK in isoform 2. 1 Publication1
Alternative sequenceiVSP_029138486 – 506VLYPA…RQAPL → NNSNQLHNLQKLPATSKFLF T in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_029139507 – 609Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY150309 mRNA. Translation: AAN71738.1.
AL607150, AC024597 Genomic DNA. Translation: CAI15189.1.
CH471083 Genomic DNA. Translation: EAW54232.1.
BC025765 mRNA. Translation: AAH25765.1.
BC048002 mRNA. No translation available.
BC141821 mRNA. Translation: AAI41822.1.
BC142725 mRNA. Translation: AAI42726.1.
AK096671 mRNA. Translation: BAC04837.1. Different initiation.
CR749217 mRNA. Translation: CAH18074.1.
CCDSiCCDS7263.1. [Q8IZC4-1]
CCDS73140.1. [Q8IZC4-3]
RefSeqiNP_001269870.1. NM_001282941.1. [Q8IZC4-3]
NP_660350.2. NM_145307.3. [Q8IZC4-1]
UniGeneiHs.58559.

Genome annotation databases

EnsembliENST00000373789; ENSP00000362894; ENSG00000182010. [Q8IZC4-1]
ENST00000395260; ENSP00000378678; ENSG00000182010. [Q8IZC4-3]
GeneIDi219790.
KEGGihsa:219790.
UCSCiuc001jlw.5. human. [Q8IZC4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRTKN2_HUMAN
AccessioniPrimary (citable) accession number: Q8IZC4
Secondary accession number(s): Q3ZCR1
, Q68DZ6, Q8N8K1, Q8TAV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: March 1, 2003
Last modified: October 25, 2017
This is version 135 of the entry and version 1 of the sequence. See 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