Q8N2U9 (PQLC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
PQ-loop repeat-containing protein 1

Gene names

Name:

PQLC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	271 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Contains 2 PQ-loop domains.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N2U9-1)

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.

Isoform 2 (identifier: Q8N2U9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: Missing.
     113-130: Missing.

Isoform 3 (identifier: Q8N2U9-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 271	271	PQ-loop repeat-containing protein 1		PRO_0000282430
Regions
	Transmembrane	8 – 28	21	Helical; Potential
	Transmembrane	49 – 69	21	Helical; Potential
	Transmembrane	76 – 96	21	Helical; Potential
	Transmembrane	145 – 165	21	Helical; Potential
	Transmembrane	168 – 188	21	Helical; Potential
	Transmembrane	232 – 252	21	Helical; Potential
	Domain	14 – 80	67	PQ-loop 1
	Domain	178 – 233	56	PQ-loop 2
Natural variations
	Alternative sequence	1 – 83	83	Missing in isoform 2.		VSP_024144
	Alternative sequence	113 – 130	18	Missing in isoform 2.		VSP_024145
	Alternative sequence	114 – 132	19	ADSKD…SFLDF → SRWCSCGPVVTPSRRPTSC in isoform 3.		VSP_043275
	Alternative sequence	133 – 271	139	Missing in isoform 3.		VSP_043276
	Natural variant	175	1	G → A in a colorectal cancer sample; somatic mutation. Ref.3		VAR_035979

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 411D19C5676893AA	FASTA	271	30,478
	10 20 30 40 50 60 MEAEGLDWLL VPLHQLVSWG AAAAMVFGGV VPYVPQYRDI RRTQNADGFS TYVCLVLLVA 70 80 90 100 110 120 NILRILFWFG RRFESPLLWQ SAIMILTMLL MLKLCTEVRV ANELNARRRS FTAADSKDEE 130 140 150 160 170 180 VKVAPRRSFL DFDPHHFWQW SSFSDYVQCV LAFTGVAGYI TYLSIDSALF VETLGFLAVL 190 200 210 220 230 240 TEAMLGVPQL YRNHRHQSTE GMSIKMVLMW TSGDAFKTAY FLLKGAPLQF SVCGLLQVLV 250 260 270 DLAILGQAYA FARHPQKPAP HAVHPTGTKA L
	Isoform 2 [UniParc]. Checksum: 99CADE1E4A36176A	FASTA	170	19,041
	10 20 30 40 50 60 MILTMLLMLK LCTEVRVANE LNARRRSFTD FDPHHFWQWS SFSDYVQCVL AFTGVAGYIT 70 80 90 100 110 120 YLSIDSALFV ETLGFLAVLT EAMLGVPQLY RNHRHQSTEG MSIKMVLMWT SGDAFKTAYF 130 140 150 160 170 LLKGAPLQFS VCGLLQVLVD LAILGQAYAF ARHPQKPAPH AVHPTGTKAL
	Isoform 3 [UniParc]. Checksum: 5F72FB589E2051EA	FASTA	132	14,993
	10 20 30 40 50 60 MEAEGLDWLL VPLHQLVSWG AAAAMVFGGV VPYVPQYRDI RRTQNADGFS TYVCLVLLVA 70 80 90 100 110 120 NILRILFWFG RRFESPLLWQ SAIMILTMLL MLKLCTEVRV ANELNARRRS FTASRWCSCG 130 PVVTPSRRPT SC

References

[1]	"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 2 AND 3). Tissue: Kidney and Testis.
[2]	"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 1). Tissue: Brain.
[3]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-175.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK026031 mRNA. Translation: BAB15329.1. AK301881 mRNA. Translation: BAH13575.1. BC030140 mRNA. Translation: AAH30140.1.
IPI	IPI00018001. IPI00181586. IPI00642804.
RefSeq	NP_001139815.1. NM_001146343.1. NP_001139817.1. NM_001146345.1. NP_079354.2. NM_025078.4.
UniGene	Hs.288284.
3D structure databases
ProteinModelPortal	Q8N2U9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N2U9. 1 interaction.
PTM databases
PhosphoSite	Q8N2U9.
Polymorphism databases
DMDM	74728728.
Proteomic databases
PaxDb	Q8N2U9.
PRIDE	Q8N2U9.
Protocols and materials databases
DNASU	80148.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000397778; ENSP00000380880; ENSG00000122490. ENST00000590381; ENSP00000465546; ENSG00000122490.
GeneID	80148.
KEGG	hsa:80148.
UCSC	uc002lnk.2. human.
Organism-specific databases
CTD	80148.
GeneCards	GC18M077662.
H-InvDB	HIX0014542.
HGNC	HGNC:26188. PQLC1.
HPA	HPA051666.
neXtProt	NX_Q8N2U9.
PharmGKB	PA134958806.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG319051.
HOGENOM	HOG000285925.
HOVERGEN	HBG056573.
InParanoid	Q8N2U9.
OMA	FWFGRRF.
PhylomeDB	Q8N2U9.
Gene expression databases
ArrayExpress	Q8N2U9.
Bgee	Q8N2U9.
CleanEx	HS_PQLC1.
Genevestigator	Q8N2U9.
Family and domain databases
InterPro	IPR006603. CTNS. [Graphical view]
SMART	SM00679. CTNS. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PQLC1. human.
GenomeRNAi	80148.
NextBio	70426.

Entry information

Entry name

PQLC1_HUMAN

Accession

Primary (citable) accession number: Q8N2U9
Secondary accession number(s): B7Z7D9, Q9H6D0

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.