Q6IEE8 (SN12L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Schlafen family member 12-like

Gene names

Name:	SLFN12L
Synonyms:	SLFN5

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	620 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein.
Sequence similarities	Belongs to the Schlafen family.
Sequence caution	The sequence CAD80167.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

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

Alternative products

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

Isoform 1 (identifier: Q6IEE8-1)

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: Gene prediction based on similarity to Pongo abelii ortholog.

Isoform 2 (identifier: Q6IEE8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MQLSEGLAAH...MDLARFVLFF → MAMKIMEKIR...RNFIRKEFLR

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 620	620	Schlafen family member 12-like		PRO_0000336097
Regions
	Transmembrane	598 – 618	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 42	42	MQLSE…FVLFF → MAMKIMEKIRNVFHCEAHRI LYICESQFLRNFIRKEFLR in isoform 2.		VSP_040137
	Natural variant	307	1	L → S. Corresponds to variant rs12451679 [ dbSNP | Ensembl ].		VAR_043551
	Natural variant	405	1	A → G. Corresponds to variant rs2304967 [ dbSNP | Ensembl ].		VAR_043552
	Natural variant	462	1	C → Y. Corresponds to variant rs2304968 [ dbSNP | Ensembl ].		VAR_043553
	Natural variant	550	1	Y → S. Corresponds to variant rs3744372 [ dbSNP | Ensembl ].		VAR_043554
Experimental info
Isoform 2:
	Sequence conflict	13	1	F → S in AK172761. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 30, 2010. Version 3. Checksum: 9BC655C067979349	FASTA	620	70,568
	10 20 30 40 50 60 MQLSEGLAAH GTRRAGKWKR TQVPLLGEEC ADMDLARFVL FFGNGLAAGK MNISIDLDTN 70 80 90 100 110 120 YAELVLNVGR VTLGENNRKK MKDCQLRKQQ NENVSRAVCA LLNSGGGVIK AEVENKGYSY 130 140 150 160 170 180 KKDGIGLDLE NSFSNMLPFV PNFLDFMQNG NYFHIFVKSW SLETSGPQIA TLSSSLYKRD 190 200 210 220 230 240 VTSAKVMNAS AALEFLKDME KTGGRAYLRP EFPAKRACVD VQEESNMEAL AADFFNRTEL 250 260 270 280 290 300 GYKEKLTFTE STHVEIKNFS TEKLLQRITE ILPQYVSAFA NTDGGYLFVG LNEDKEVIGF 310 320 330 340 350 360 KAEKSYLTKL EEVTKNSIGK LPVHHFCVEK GTINYLCKFL GVYDKGRLCG YVYALRVERF 370 380 390 400 410 420 CCAVFAKKPD SWHVKDNRVK QLTEKEWIQF MVDSEPVCEE LPSPASTSSP VSQSYPLREY 430 440 450 460 470 480 INFKIQPLRY HLPGLSEKIT CAPKTFCRNL FSQHEGLKQL ICEEMGSVNK GSLIFSRSWS 490 500 510 520 530 540 LDLGLQENHK VLCDALLISQ DKPPVLYTFH MVQDEEFKDY STQTAQTLKQ KLAKIGGYTK 550 560 570 580 590 600 KVCVMTKIFY LSPEGKTSCQ YDLNSQVIYP ESYYWTTAQT MKDLEKALSN ILPKENQIFL 610 620 FVCLFRFCLF VCWFVCFFLR
	Isoform 2 [UniParc]. Checksum: 2E14C83E8AB76200	FASTA	617	70,734
	10 20 30 40 50 60 MAMKIMEKIR NVFHCEAHRI LYICESQFLR NFIRKEFLRG NGLAAGKMNI SIDLDTNYAE 70 80 90 100 110 120 LVLNVGRVTL GENNRKKMKD CQLRKQQNEN VSRAVCALLN SGGGVIKAEV ENKGYSYKKD 130 140 150 160 170 180 GIGLDLENSF SNMLPFVPNF LDFMQNGNYF HIFVKSWSLE TSGPQIATLS SSLYKRDVTS 190 200 210 220 230 240 AKVMNASAAL EFLKDMEKTG GRAYLRPEFP AKRACVDVQE ESNMEALAAD FFNRTELGYK 250 260 270 280 290 300 EKLTFTESTH VEIKNFSTEK LLQRITEILP QYVSAFANTD GGYLFVGLNE DKEVIGFKAE 310 320 330 340 350 360 KSYLTKLEEV TKNSIGKLPV HHFCVEKGTI NYLCKFLGVY DKGRLCGYVY ALRVERFCCA 370 380 390 400 410 420 VFAKKPDSWH VKDNRVKQLT EKEWIQFMVD SEPVCEELPS PASTSSPVSQ SYPLREYINF 430 440 450 460 470 480 KIQPLRYHLP GLSEKITCAP KTFCRNLFSQ HEGLKQLICE EMGSVNKGSL IFSRSWSLDL 490 500 510 520 530 540 GLQENHKVLC DALLISQDKP PVLYTFHMVQ DEEFKDYSTQ TAQTLKQKLA KIGGYTKKVC 550 560 570 580 590 600 VMTKIFYLSP EGKTSCQYDL NSQVIYPESY YWTTAQTMKD LEKALSNILP KENQIFLFVC 610 LFRFCLFVCW FVCFFLR

References

	« Hide 'large scale' referencesShow 'large scale' 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] (ISOFORM 2).
[2]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region." Kehrer-Sawatzki H., Tinschert S., Jenne D.E. J. Med. Genet. 40:E116-E116(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION (ISOFORM 1).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK172761 mRNA. No translation available. AC015911 Genomic DNA. No translation available. BN000147 mRNA. Translation: CAD80167.1. Sequence problems.
IPI	IPI00455328. IPI00939958.
RefSeq	NP_001182719.1. NM_001195790.1.
UniGene	Hs.447559.
3D structure databases
ProteinModelPortal	Q6IEE8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000354412.
PTM databases
PhosphoSite	Q6IEE8.
Polymorphism databases
DMDM	189046779.
Proteomic databases
PaxDb	Q6IEE8.
PRIDE	Q6IEE8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361112; ENSP00000354412; ENSG00000205045.
GeneID	100506736.
KEGG	hsa:100506736.
UCSC	uc002hjn.3. human.
Organism-specific databases
CTD	100506736.
GeneCards	GC17M033801.
HGNC	HGNC:33920. SLFN12L.
HPA	HPA024447.
MIM	614956. gene.
neXtProt	NX_Q6IEE8.
PharmGKB	PA162403886.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG27497.
HOGENOM	HOG000133056.
HOVERGEN	HBG057499.
InParanoid	Q6IEE8.
Gene expression databases
ArrayExpress	Q6IEE8.
Bgee	Q6IEE8.
CleanEx	HS_SLFN12L. HS_SLFN5.
Genevestigator	Q6IEE8.
Family and domain databases
InterPro	IPR007421. ATPase_AAA-4. [Graphical view]
Pfam	PF04326. AAA_4. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	34054390.
SOURCE	Search...

Entry information

Entry name

SN12L_HUMAN

Accession

Primary (citable) accession number: Q6IEE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	November 30, 2010
Last modified:	April 3, 2013
This is version 62 of the entry and version 3 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.