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Protein

PQ-loop repeat-containing protein 1

Gene

PQLC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000122490.18
HGNCiHGNC:26188 PQLC1
neXtProtiNX_Q8N2U9

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

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, 2 interactors
IntActiQ8N2U9, 2 interactors
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2913 Eukaryota
ENOG4111FM2 LUCA
GeneTreeiENSGT00390000002381
HOGENOMiHOG000285925
HOVERGENiHBG056573
InParanoidiQ8N2U9
OMAiLYRNYQN
OrthoDBiEOG091G0IP7
PhylomeDBiQ8N2U9
TreeFamiTF313072

Family and domain databases

InterProiView protein in InterPro
IPR006603 PQ-loop_rpt
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits

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

Similar proteinsi

Entry informationi

Entry nameiPQLC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N2U9
Secondary accession number(s): B7Z7D9, G5E989, Q9H6D0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 101 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
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Main funding by: National Institutes of Health