Reviewed, UniProtKB/Swiss-Prot Q6ZN90 (PRAML_HUMAN)

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.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities

Belongs to the PRAME family. Contains 3 LRR (leucine-rich) repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
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	318 – 341	24	LRR 1
	Repeat	370 – 393	24	LRR 2
	Repeat	427 – 451	25	LRR 3
Natural variations
	Alternative sequence	1 – 239	239	Missing in isoform 2.		VSP_033756
	Natural variant	7	1	R → Q: dbSNP rs986645.		VAR_043458
	Natural variant	25	1	E → D: dbSNP rs369613.		VAR_043459
	Natural variant	186	1	A → T: dbSNP rs238775.		VAR_043460
	Natural variant	291	1	L → F: dbSNP rs238774.		VAR_043461
	Natural variant	396	1	R → K: dbSNP rs9607485.		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. 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
EMBLGenBankDDBJ	D86993 Genomic DNA. No translation available. D88268 Genomic DNA. No translation available. AK131325 mRNA. Translation: BAD18485.1.
IPI	IPI00412942. IPI00892558.
RefSeq	XP_001717453.1. XP_001719203.1.
UniGene	Hs.553939
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q6ZN90.
Genome annotation databases
Ensembl	ENSG00000197549. Homo sapiens. [Contig view]
GeneID	649179.
KEGG	hsa:649179.
Organism-specific databases
GeneCards	GC22M020678.
HGNC	HGNC:34302. PRAMEL.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q6ZN90.
HOVERGEN	Q6ZN90.
Gene expression databases
ArrayExpress	Q6ZN90.
Bgee	Q6ZN90.
CleanEx	HS_PRAMEL.
Family and domain databases
ProtoNet	Search...
Other Resources
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:	April 14, 2009
This is version 33 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)