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Protein

PQ-loop repeat-containing protein 1

Gene

PQLC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
PQ-loop repeat-containing protein 1
Gene namesi
Name:PQLC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26188. PQLC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
Transmembranei76 – 96HelicalSequence analysisAdd BLAST21
Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Transmembranei232 – 252HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000122490.
PharmGKBiPA134958806.

Polymorphism and mutation databases

BioMutaiPQLC1.
DMDMi74728728.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002824301 – 271PQ-loop repeat-containing protein 1Add BLAST271

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N2U9.
PaxDbiQ8N2U9.
PeptideAtlasiQ8N2U9.
PRIDEiQ8N2U9.

PTM databases

iPTMnetiQ8N2U9.
PhosphoSitePlusiQ8N2U9.

Expressioni

Gene expression databases

BgeeiENSG00000122490.
CleanExiHS_PQLC1.
ExpressionAtlasiQ8N2U9. baseline and differential.
GenevisibleiQ8N2U9. HS.

Organism-specific databases

HPAiHPA051666.

Interactioni

Protein-protein interaction databases

BioGridi123140. 1 interactor.
IntActiQ8N2U9. 1 interactor.
STRINGi9606.ENSP00000380880.

Structurei

3D structure databases

ProteinModelPortaliQ8N2U9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 80PQ-loop 1Add BLAST67
Domaini178 – 233PQ-loop 2Add BLAST56

Sequence similaritiesi

Contains 2 PQ-loop domains.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2913. Eukaryota.
ENOG4111FM2. LUCA.
GeneTreeiENSGT00390000002381.
HOGENOMiHOG000285925.
HOVERGENiHBG056573.
InParanoidiQ8N2U9.
OMAiMWFFFAS.
OrthoDBiEOG091G0IP7.
PhylomeDBiQ8N2U9.
TreeFamiTF313072.

Family and domain databases

InterProiIPR006603. PQ-loop_rpt.
[Graphical view]
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N2U9-1) [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
MEAEGLDWLL VPLHQLVSWG AAAAMVFGGV VPYVPQYRDI RRTQNADGFS
60 70 80 90 100
TYVCLVLLVA NILRILFWFG RRFESPLLWQ SAIMILTMLL MLKLCTEVRV
110 120 130 140 150
ANELNARRRS FTAADSKDEE VKVAPRRSFL DFDPHHFWQW SSFSDYVQCV
160 170 180 190 200
LAFTGVAGYI TYLSIDSALF VETLGFLAVL TEAMLGVPQL YRNHRHQSTE
210 220 230 240 250
GMSIKMVLMW TSGDAFKTAY FLLKGAPLQF SVCGLLQVLV DLAILGQAYA
260 270
FARHPQKPAP HAVHPTGTKA L
Length:271
Mass (Da):30,478
Last modified:October 1, 2002 - v1
Checksum:i411D19C5676893AA
GO
Isoform 2 (identifier: Q8N2U9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-130: Missing.

Show »
Length:253
Mass (Da):28,477
Checksum:i6D70954348AF4046
GO
Isoform 3 (identifier: Q8N2U9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-132: ADSKDEEVKVAPRRSFLDF → SRWCSCGPVVTPSRRPTSC
     133-271: Missing.

Note: No experimental confirmation available.
Show »
Length:132
Mass (Da):14,993
Checksum:i5F72FB589E2051EA
GO

Sequence cautioni

The sequence BAB15329 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035979175G → A in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024145113 – 130Missing in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_043275114 – 132ADSKD…SFLDF → SRWCSCGPVVTPSRRPTSC in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_043276133 – 271Missing in isoform 3. 1 PublicationAdd BLAST139

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026031 mRNA. Translation: BAB15329.1. Different initiation.
AK301881 mRNA. Translation: BAH13575.1.
AC114341 Genomic DNA. No translation available.
CH471117 Genomic DNA. Translation: EAW66636.1.
BC030140 mRNA. Translation: AAH30140.1.
CCDSiCCDS12020.1. [Q8N2U9-1]
CCDS54192.1. [Q8N2U9-3]
CCDS54193.1. [Q8N2U9-2]
RefSeqiNP_001139815.1. NM_001146343.1. [Q8N2U9-3]
NP_001139817.1. NM_001146345.1. [Q8N2U9-2]
NP_079354.2. NM_025078.4. [Q8N2U9-1]
UniGeneiHs.288284.

Genome annotation databases

EnsembliENST00000357575; ENSP00000350188; ENSG00000122490. [Q8N2U9-2]
ENST00000397778; ENSP00000380880; ENSG00000122490. [Q8N2U9-1]
ENST00000590381; ENSP00000465546; ENSG00000122490. [Q8N2U9-3]
GeneIDi80148.
KEGGihsa:80148.
UCSCiuc002lnk.3. human. [Q8N2U9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026031 mRNA. Translation: BAB15329.1. Different initiation.
AK301881 mRNA. Translation: BAH13575.1.
AC114341 Genomic DNA. No translation available.
CH471117 Genomic DNA. Translation: EAW66636.1.
BC030140 mRNA. Translation: AAH30140.1.
CCDSiCCDS12020.1. [Q8N2U9-1]
CCDS54192.1. [Q8N2U9-3]
CCDS54193.1. [Q8N2U9-2]
RefSeqiNP_001139815.1. NM_001146343.1. [Q8N2U9-3]
NP_001139817.1. NM_001146345.1. [Q8N2U9-2]
NP_079354.2. NM_025078.4. [Q8N2U9-1]
UniGeneiHs.288284.

3D structure databases

ProteinModelPortaliQ8N2U9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123140. 1 interactor.
IntActiQ8N2U9. 1 interactor.
STRINGi9606.ENSP00000380880.

PTM databases

iPTMnetiQ8N2U9.
PhosphoSitePlusiQ8N2U9.

Polymorphism and mutation databases

BioMutaiPQLC1.
DMDMi74728728.

Proteomic databases

MaxQBiQ8N2U9.
PaxDbiQ8N2U9.
PeptideAtlasiQ8N2U9.
PRIDEiQ8N2U9.

Protocols and materials databases

DNASUi80148.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357575; ENSP00000350188; ENSG00000122490. [Q8N2U9-2]
ENST00000397778; ENSP00000380880; ENSG00000122490. [Q8N2U9-1]
ENST00000590381; ENSP00000465546; ENSG00000122490. [Q8N2U9-3]
GeneIDi80148.
KEGGihsa:80148.
UCSCiuc002lnk.3. human. [Q8N2U9-1]

Organism-specific databases

CTDi80148.
GeneCardsiPQLC1.
H-InvDBHIX0014542.
HGNCiHGNC:26188. PQLC1.
HPAiHPA051666.
neXtProtiNX_Q8N2U9.
OpenTargetsiENSG00000122490.
PharmGKBiPA134958806.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2913. Eukaryota.
ENOG4111FM2. LUCA.
GeneTreeiENSGT00390000002381.
HOGENOMiHOG000285925.
HOVERGENiHBG056573.
InParanoidiQ8N2U9.
OMAiMWFFFAS.
OrthoDBiEOG091G0IP7.
PhylomeDBiQ8N2U9.
TreeFamiTF313072.

Miscellaneous databases

ChiTaRSiPQLC1. human.
GenomeRNAii80148.
PROiQ8N2U9.

Gene expression databases

BgeeiENSG00000122490.
CleanExiHS_PQLC1.
ExpressionAtlasiQ8N2U9. baseline and differential.
GenevisibleiQ8N2U9. HS.

Family and domain databases

InterProiIPR006603. PQ-loop_rpt.
[Graphical view]
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPQLC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N2U9
Secondary accession number(s): B7Z7D9, G5E989, Q9H6D0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 96 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 18
    Human chromosome 18: 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.