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Q8TDX9

- PK1L1_HUMAN

UniProt

Q8TDX9 - PK1L1_HUMAN

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Protein
Polycystic kidney disease protein 1-like 1
Gene
PKD1L1, UNQ5785/PRO19563
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.1 Publication

GO - Molecular functioni

  1. calcium channel activity Source: UniProtKB
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. detection of mechanical stimulus Source: RefGenome
  2. detection of nodal flow Source: BHF-UCL
  3. left/right axis specification Source: BHF-UCL
  4. single organismal cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi1.A.5.1.3. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease protein 1-like 1
Alternative name(s):
PC1-like 1 protein
Polycystin-1L1
Gene namesi
Name:PKD1L1
ORF Names:UNQ5785/PRO19563
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:18053. PKD1L1.

Subcellular locationi

Cell projectioncilium membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 17481748Extracellular Reviewed prediction
Add
BLAST
Transmembranei1749 – 176921Helical; Reviewed prediction
Add
BLAST
Topological domaini1770 – 1956187Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1957 – 197721Helical; Reviewed prediction
Add
BLAST
Topological domaini1978 – 199215Extracellular Reviewed prediction
Add
BLAST
Transmembranei1993 – 201321Helical; Reviewed prediction
Add
BLAST
Topological domaini2014 – 2135122Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2136 – 215621Helical; Reviewed prediction
Add
BLAST
Topological domaini2157 – 217418Extracellular Reviewed prediction
Add
BLAST
Transmembranei2175 – 219521Helical; Reviewed prediction
Add
BLAST
Topological domaini2196 – 228186Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2282 – 230221Helical; Reviewed prediction
Add
BLAST
Topological domaini2303 – 2522220Extracellular Reviewed prediction
Add
BLAST
Transmembranei2523 – 254321Helical; Reviewed prediction
Add
BLAST
Topological domaini2544 – 256219Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2563 – 258321Helical; Reviewed prediction
Add
BLAST
Topological domaini2584 – 261633Extracellular Reviewed prediction
Add
BLAST
Transmembranei2617 – 263721Helical; Reviewed prediction
Add
BLAST
Topological domaini2638 – 26469Cytoplasmic Reviewed prediction
Transmembranei2647 – 266721Helical; Reviewed prediction
Add
BLAST
Topological domaini2668 – 271144Extracellular Reviewed prediction
Add
BLAST
Transmembranei2712 – 273221Helical; Reviewed prediction
Add
BLAST
Topological domaini2733 – 2849117Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. calcium channel complex Source: UniProtKB
  2. ciliary membrane Source: UniProtKB-SubCell
  3. cilium Source: BHF-UCL
  4. membrane Source: UniProtKB
  5. nonmotile primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38282.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 28492849Polycystic kidney disease protein 1-like 1
PRO_0000164358Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi8 – 81N-linked (GlcNAc...) Reviewed prediction
Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi338 – 3381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi376 – 3761N-linked (GlcNAc...) Reviewed prediction
Glycosylationi447 – 4471N-linked (GlcNAc...) Reviewed prediction
Glycosylationi482 – 4821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi514 – 5141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi605 – 6051N-linked (GlcNAc...) Reviewed prediction
Glycosylationi657 – 6571N-linked (GlcNAc...) Reviewed prediction
Glycosylationi751 – 7511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi875 – 8751N-linked (GlcNAc...) Reviewed prediction
Glycosylationi926 – 9261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi937 – 9371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1233 – 12331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1301 – 13011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1306 – 13061N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1572 – 15721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1681 – 16811N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1716 – 17161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2426 – 24261N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8TDX9.
PRIDEiQ8TDX9.

PTM databases

PhosphoSiteiQ8TDX9.

Expressioni

Tissue specificityi

Detected in testis and in fetal and adult heart.

Gene expression databases

BgeeiQ8TDX9.
CleanExiHS_PKD1L1.
GenevestigatoriQ8TDX9.

Organism-specific databases

HPAiHPA020422.
HPA022424.

Interactioni

Subunit structurei

Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2.1 Publication

Protein-protein interaction databases

MINTiMINT-5002126.
STRINGi9606.ENSP00000289672.

Structurei

3D structure databases

ProteinModelPortaliQ8TDX9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini508 – 59083PKD 1
Add
BLAST
Domaini592 – 67382PKD 2
Add
BLAST
Domaini674 – 1571898REJ
Add
BLAST
Domaini1688 – 173447GPS
Add
BLAST
Domaini1796 – 1913118PLAT
Add
BLAST

Sequence similaritiesi

Belongs to the polycystin family.
Contains 1 GPS domain.
Contains 2 PKD domains.
Contains 1 PLAT domain.
Contains 1 REJ domain.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG235534.
HOGENOMiHOG000115551.
HOVERGENiHBG053602.
InParanoidiQ8TDX9.
KOiK04987.
OMAiHTFILSA.
OrthoDBiEOG7WHH8K.
PhylomeDBiQ8TDX9.
TreeFamiTF316484.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProiIPR008976. Lipase_LipOase.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ-like.
[Graphical view]
PfamiPF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00089. PKD. 2 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 1 hit.
SSF49723. SSF49723. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TDX9-1) [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

MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG     50
LWVEVYANHV LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT 100
TSEAALSVVN EKTQAVVNEK TQAPLDCDNS ADRIPHKPFI IIARAWSSGG 150
PRFHHRRLCA TGTADSTFSA LLQLQGTTSA AAPCSLKMEA SCCVLRLLCC 200
AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF PTSPRSSHGL 250
PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV 300
EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ 350
YSKGIFFHLL HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG 400
YELISAFVTK GVYMLKAVIY NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS 450
VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS YNVSFISQTQ VGDSQAWHSM 500
TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW YFGEDPPVRT 550
TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS 600
SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV 650
EVLAFNNVSA STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT 700
FEAAVFCDIS QGLSYTWNLM DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG 750
NYTALAKVQI EGSVVYSNYC VGLEVRAQAP VSVISEGTHL FFSRTTSSPI 800
VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH QLDAAAPTVS 850
FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS 900
FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR 950
VVGLLGSLGL GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP 1000
ATSAPRGTPT EPMTGVYWIP PAGDSAVLGE APEEGSLDLE PGPQSKGSLM 1050
TGRSERSQPT HSPDPHLSDF EAYYSDIQEA IPSGGRQPAK DTSFPGSGPS 1100
LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV FQGYSSSGIT 1150
EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV 1200
QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV 1250
LPAGEHLDNY KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY 1300
NSSLKNLSTL QLMGSYTEIR NYITVITRIL SRLSKEDKTA SCNQWSRIQD 1350
ALISSVCRLA FVDQEEMIGS VLMLRDLVSF SNKLGFMSAV LILKYTRALL 1400
AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY RHEEGITVIS 1450
DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP 1500
AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR 1550
QWLRKPVMVE FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ 1600
IEIEFSKPVT RAFPVMLLVR FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA 1650
SQKDASVGYL SLLDADYDRK PPNRYLAKAV NYTVHFQWIR CLFWDKREWK 1700
SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD ISKLQSHPEN 1750
LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV 1800
VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL 1850
SAPAQLGLLR KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS 1900
AGRHDGRVER ELTCLQGGLG FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR 1950
YLHTPRLTVS FSLLCVYACL TALVAAGGQE QPHLDVSPTL GSFRVGLLCT 2000
LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA PHGPNSWGRI 2050
PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL 2100
MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL 2150
GTGFLAYRFG QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA 2200
DNHFFTESLC EATRDLDSEL AERSWTRLPF SSSCSIPDCA GEVEKVLAAR 2250
QQARHLRWAH PPSKAQLRGT RQRMRRESRT RAALRDISMD ILMLLLLLCV 2300
IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW SLTTLLDGLY 2350
PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI 2400
EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT 2450
EAHTALSRLR ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS 2500
LVPSSLVESF SIFRSDSALQ YHLMLPQLVF LALSLIHLCV QLYRMMDKGV 2550
LSYWRKPRNW LELSVVGVSL TYYAVSGHLV TLAGDVTNQF HRGLCRAFMD 2600
LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS SMMRHSLPSI 2650
FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD 2700
CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS 2750
FVRLKDVTAY MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL 2800
MKINGLSDSL QLPLLEKTSN NTGEARTEES PLVDISSYQA AEPADIKDF 2849

Note: No experimental confirmation available.

Length:2,849
Mass (Da):315,435
Last modified:June 1, 2002 - v1
Checksum:iA0E60E88E7DDAA75
GO
Isoform 2 (identifier: Q8TDX9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     2563-2573: LSVVGVSLTYY → VASLVSFSFEK
     2574-2849: Missing.

Note: No experimental confirmation available.

Show »
Length:2,573
Mass (Da):284,308
Checksum:i2009B3589823C438
GO

Sequence cautioni

The sequence AAQ89117.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti312 – 3121V → F.
Corresponds to variant rs2686817 [ dbSNP | Ensembl ].
VAR_024566
Natural varianti812 – 8121D → N.
Corresponds to variant rs17131915 [ dbSNP | Ensembl ].
VAR_050552
Natural varianti879 – 8791T → A.
Corresponds to variant rs11972142 [ dbSNP | Ensembl ].
VAR_050553
Natural varianti894 – 8941V → I.
Corresponds to variant rs56100904 [ dbSNP | Ensembl ].
VAR_061522
Natural varianti906 – 9061V → I.1 Publication
VAR_065825
Natural varianti1053 – 10531R → P.
Corresponds to variant rs10274334 [ dbSNP | Ensembl ].
VAR_024567
Natural varianti1272 – 12721K → E.
Corresponds to variant rs1470859 [ dbSNP | Ensembl ].
VAR_024568
Natural varianti2057 – 20571R → H.
Corresponds to variant rs17131834 [ dbSNP | Ensembl ].
VAR_061523
Natural varianti2410 – 24101E → K.
Corresponds to variant rs2290386 [ dbSNP | Ensembl ].
VAR_021944
Natural varianti2603 – 26031L → F.
Corresponds to variant rs59848490 [ dbSNP | Ensembl ].
VAR_061524
Natural varianti2685 – 26851A → T.
Corresponds to variant rs13231277 [ dbSNP | Ensembl ].
VAR_050554

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2563 – 257311LSVVGVSLTYY → VASLVSFSFEK in isoform 2.
VSP_013215Add
BLAST
Alternative sequencei2574 – 2849276Missing in isoform 2.
VSP_013216Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB061683 mRNA. Translation: BAB85807.1.
AY358757 mRNA. Translation: AAQ89117.1. Different initiation.
CCDSiCCDS34633.1. [Q8TDX9-1]
RefSeqiNP_612152.1. NM_138295.3. [Q8TDX9-1]
UniGeneiHs.195979.

Genome annotation databases

EnsembliENST00000289672; ENSP00000289672; ENSG00000158683. [Q8TDX9-1]
GeneIDi168507.
KEGGihsa:168507.
UCSCiuc003tny.2. human. [Q8TDX9-1]

Polymorphism databases

DMDMi23821932.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB061683 mRNA. Translation: BAB85807.1 .
AY358757 mRNA. Translation: AAQ89117.1 . Different initiation.
CCDSi CCDS34633.1. [Q8TDX9-1 ]
RefSeqi NP_612152.1. NM_138295.3. [Q8TDX9-1 ]
UniGenei Hs.195979.

3D structure databases

ProteinModelPortali Q8TDX9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-5002126.
STRINGi 9606.ENSP00000289672.

Protein family/group databases

TCDBi 1.A.5.1.3. the polycystin cation channel (pcc) family.

PTM databases

PhosphoSitei Q8TDX9.

Polymorphism databases

DMDMi 23821932.

Proteomic databases

PaxDbi Q8TDX9.
PRIDEi Q8TDX9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000289672 ; ENSP00000289672 ; ENSG00000158683 . [Q8TDX9-1 ]
GeneIDi 168507.
KEGGi hsa:168507.
UCSCi uc003tny.2. human. [Q8TDX9-1 ]

Organism-specific databases

CTDi 168507.
GeneCardsi GC07M047780.
HGNCi HGNC:18053. PKD1L1.
HPAi HPA020422.
HPA022424.
MIMi 609721. gene.
neXtProti NX_Q8TDX9.
PharmGKBi PA38282.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG235534.
HOGENOMi HOG000115551.
HOVERGENi HBG053602.
InParanoidi Q8TDX9.
KOi K04987.
OMAi HTFILSA.
OrthoDBi EOG7WHH8K.
PhylomeDBi Q8TDX9.
TreeFami TF316484.

Miscellaneous databases

GenomeRNAii 168507.
NextBioi 88750.
PROi Q8TDX9.
SOURCEi Search...

Gene expression databases

Bgeei Q8TDX9.
CleanExi HS_PKD1L1.
Genevestigatori Q8TDX9.

Family and domain databases

Gene3Di 2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProi IPR008976. Lipase_LipOase.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ-like.
[Graphical view ]
Pfami PF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view ]
SMARTi SM00089. PKD. 2 hits.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 1 hit.
SSF49723. SSF49723. 1 hit.
PROSITEi PS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human."
    Yuasa T., Venugopal B., Weremowicz S., Morton C.C., Guo L., Zhou J.
    Genomics 79:376-386(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2247-2573 (ISOFORM 2).
  3. "Direct recording and molecular identification of the calcium channel of primary cilia."
    DeCaen P.G., Delling M., Vien T.N., Clapham D.E.
    Nature 504:315-318(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH PKD2L1, SUBCELLULAR LOCATION.
  4. "BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing."
    Funari V.A., Krakow D., Nevarez L., Chen Z., Funari T.L., Vatanavicharn N., Wilcox W.R., Rimoin D.L., Nelson S.F., Cohn D.H.
    Am. J. Hum. Genet. 87:532-537(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ILE-906.

Entry informationi

Entry nameiPK1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8TDX9
Secondary accession number(s): Q6UWK1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: June 1, 2002
Last modified: July 9, 2014
This is version 110 of the entry and version 1 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 7
    Human chromosome 7: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi