Q6ZN90 (PRAML_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Leucine-rich repeat-containing protein PRAME-like

Gene names

Name:

PRAMEL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the PRAME family. Contains 5 LRR (leucine-rich) repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6ZN90-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q6ZN90-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-239: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	Leucine-rich repeat-containing protein PRAME-like		PRO_0000334686
Regions
	Repeat	320 – 342	23	LRR 1
	Repeat	345 – 365	21	LRR 2
	Repeat	372 – 395	24	LRR 3
	Repeat	401 – 421	21	LRR 4
	Repeat	429 – 450	22	LRR 5
Natural variations
	Alternative sequence	1 – 239	239	Missing in isoform 2.		VSP_033756
	Natural variant	7	1	R → Q. Corresponds to variant rs986645 [ dbSNP | Ensembl ].		VAR_043458
	Natural variant	25	1	E → D. Corresponds to variant rs369613 [ dbSNP | Ensembl ].		VAR_043459
	Natural variant	186	1	A → T. Corresponds to variant rs238775 [ dbSNP | Ensembl ].		VAR_043460
	Natural variant	291	1	L → F. Corresponds to variant rs238774 [ dbSNP | Ensembl ].		VAR_043461
	Natural variant	396	1	R → K. Corresponds to variant rs9607485 [ dbSNP | Ensembl ].		VAR_043462

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: C8E46D4F83A4893D	FASTA	520	58,165
	10 20 30 40 50 60 MALVLLRPDS SIFANIVAVP SAVQERVTFC PTVPDTEASW VSADCAQDPG TEEAGTERSM 70 80 90 100 110 120 EVNHPAPLSL LELAAHSLLS NEASVPLVLE QLTVNLFPPL LTAAFAKGHR KALKALVQAW 130 140 150 160 170 180 PFRFLHLGSL IVQWPNQDSL QAVVDGLEAF SAHRACPRKS ELRMLDFTLD SEQVFYCGKG 190 200 210 220 230 240 ASEALAKFPF WLPSAVKAET PQATARPKPL DKFLSDLLTK VEQSHGALHL CCRKLHIEKM 250 260 270 280 290 300 AVDSLLRILK TLRLDFIQEL EVFYWCRDFL VLAEPNLSAI QLGRIFNLRS LKLFYYKWAF 310 320 330 340 350 360 SSWVRRPSSY FFSQLTMLGH LRKLHLSHSY LVGKLHYILS CLWVPLHSLE ICNCKLLDTD 370 380 390 400 410 420 ITYLSRSHHT TCLKKLDLSV NDLSYMIPGP LGTLLRAVSG TLQHLDLKHC WLKDAHLSAL 430 440 450 460 470 480 LPALCRCSHL SSLSLSDNPI SSACLLSLLE HTMGLMELKQ VLYPIPVDCC IYLHGVCRGP 490 500 510 520 VNEDKLCQLQ AEIQKQLQAM QQADMQWSPS TVFAYAAGAV
	Isoform 2 [UniParc]. Checksum: EF16592B8A219492	FASTA	281	32,025
	10 20 30 40 50 60 MAVDSLLRIL KTLRLDFIQE LEVFYWCRDF LVLAEPNLSA IQLGRIFNLR SLKLFYYKWA 70 80 90 100 110 120 FSSWVRRPSS YFFSQLTMLG HLRKLHLSHS YLVGKLHYIL SCLWVPLHSL EICNCKLLDT 130 140 150 160 170 180 DITYLSRSHH TTCLKKLDLS VNDLSYMIPG PLGTLLRAVS GTLQHLDLKH CWLKDAHLSA 190 200 210 220 230 240 LLPALCRCSH LSSLSLSDNP ISSACLLSLL EHTMGLMELK QVLYPIPVDC CIYLHGVCRG 250 260 270 280 PVNEDKLCQL QAEIQKQLQA MQQADMQWSP STVFAYAAGA V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"One-megabase sequence analysis of the human immunoglobulin lambda gene locus." Kawasaki K., Minoshima S., Nakato E., Shibuya K., Shintani A., Schmeits J.L., Wang J., Shimizu N. Genome Res. 7:250-261(1997) [PubMed: 9074928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Synovium.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D86993 Genomic DNA. No translation available. D88268 Genomic DNA. No translation available. AK131325 mRNA. Translation: BAD18485.1.
IPI	IPI00412942. IPI00892558.
UniGene	Hs.553939.
3D structure databases
ProteinModelPortal	Q6ZN90.
SMR	Q6ZN90. Positions 251-476.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6ZN90. 1 interaction.
Polymorphism databases
DMDM	189041704.
Proteomic databases
PRIDE	Q6ZN90.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC22M022345.
HGNC	HGNC:34302. PRAMEL.
neXtProt	NX_Q6ZN90.
PharmGKB	PA162400024.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13564.
InParanoid	Q6ZN90.
Gene expression databases
ArrayExpress	Q6ZN90.
CleanEx	HS_PRAMEL.
Genevestigator	Q6ZN90.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. [Graphical view]
PROSITE	PS51450. LRR. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	120754.

Entry information

Entry name

PRAML_HUMAN

Accession

Primary (citable) accession number: Q6ZN90

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 20, 2008
Last modified:	January 25, 2012
This is version 52 of the entry and version 2 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.