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Q6IEE8 (SN12L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Schlafen family member 12-like
Gene names
Name:SLFN12L
Synonyms:SLFN5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length588 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionATP 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:
     1-4: MDLA → MAMKIMEKIRNVFHCEAHRILYICESQFLRNFI

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 588588Schlafen family member 12-like
PRO_0000336097

Regions

Transmembrane566 – 58621Helical; Potential

Natural variations

Alternative sequence1 – 44MDLA → MAMKIMEKIRNVFHCEAHRI LYICESQFLRNFI in isoform 2.
VSP_040137
Natural variant2751L → S.
Corresponds to variant rs12451679 [ dbSNP | Ensembl ].
VAR_043551
Natural variant3731A → G.
Corresponds to variant rs2304967 [ dbSNP | Ensembl ].
VAR_043552
Natural variant4301C → Y.
Corresponds to variant rs2304968 [ dbSNP | Ensembl ].
VAR_043553
Natural variant5181Y → S.
Corresponds to variant rs3744372 [ dbSNP | Ensembl ].
VAR_043554

Experimental info

Isoform 2:
Sequence conflict131F → S in AK172761. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 14, 2014. Version 4.
Checksum: C8B7C194140C6A50

FASTA58867,096
        10         20         30         40         50         60 
MDLARKEFLR GNGLAAGKMN ISIDLDTNYA ELVLNVGRVT LGENNRKKMK DCQLRKQQNE 

        70         80         90        100        110        120 
NVSRAVCALL NSGGGVIKAE VENKGYSYKK DGIGLDLENS FSNMLPFVPN FLDFMQNGNY 

       130        140        150        160        170        180 
FHIFVKSWSL ETSGPQIATL SSSLYKRDVT SAKVMNASAA LEFLKDMEKT GGRAYLRPEF 

       190        200        210        220        230        240 
PAKRACVDVQ EESNMEALAA DFFNRTELGY KEKLTFTEST HVEIKNFSTE KLLQRITEIL 

       250        260        270        280        290        300 
PQYVSAFANT DGGYLFVGLN EDKEVIGFKA EKSYLTKLEE VTKNSIGKLP VHHFCVEKGT 

       310        320        330        340        350        360 
INYLCKFLGV YDKGRLCGYV YALRVERFCC AVFAKKPDSW HVKDNRVKQL TEKEWIQFMV 

       370        380        390        400        410        420 
DSEPVCEELP SPASTSSPVS QSYPLREYIN FKIQPLRYHL PGLSEKITCA PKTFCRNLFS 

       430        440        450        460        470        480 
QHEGLKQLIC EEMGSVNKGS LIFSRSWSLD LGLQENHKVL CDALLISQDK PPVLYTFHMV 

       490        500        510        520        530        540 
QDEEFKDYST QTAQTLKQKL AKIGGYTKKV CVMTKIFYLS PEGKTSCQYD LNSQVIYPES 

       550        560        570        580 
YYWTTAQTMK DLEKALSNIL PKENQIFLFV CLFRFCLFVC WFVCFFLR 

« Hide

Isoform 2 [UniParc].

Checksum: 2E14C83E8AB76200
Show »

FASTA61770,734

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001182719.1. NM_001195790.1. [Q6IEE8-1]
UniGeneHs.447559.

3D structure databases

ProteinModelPortalQ6IEE8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131188. 2 interactions.
STRING9606.ENSP00000354412.

PTM databases

PhosphoSiteQ6IEE8.

Polymorphism databases

DMDM313104287.

Proteomic databases

PaxDbQ6IEE8.
PRIDEQ6IEE8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260908; ENSP00000437635; ENSG00000205045.
ENST00000361112; ENSP00000354412; ENSG00000205045. [Q6IEE8-2]
GeneID100506736.
KEGGhsa:100506736.
UCSCuc002hjn.3. human. [Q6IEE8-2]

Organism-specific databases

CTD100506736.
GeneCardsGC17M033791.
HGNCHGNC:33920. SLFN12L.
HPAHPA024447.
MIM614956. gene.
neXtProtNX_Q6IEE8.
PharmGKBPA162403886.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27497.
HOGENOMHOG000133056.
HOVERGENHBG057499.
InParanoidQ6IEE8.
OrthoDBEOG7GTT3N.
PhylomeDBQ6IEE8.
TreeFamTF337168.

Gene expression databases

BgeeQ6IEE8.
CleanExHS_SLFN12L.
HS_SLFN5.
GenevestigatorQ6IEE8.

Family and domain databases

InterProIPR007421. ATPase_AAA-4.
[Graphical view]
PfamPF04326. AAA_4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio34054390.
PROQ6IEE8.
SOURCESearch...

Entry information

Entry nameSN12L_HUMAN
AccessionPrimary (citable) accession number: Q6IEE8
Secondary accession number(s): F5H6G3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 14, 2014
Last modified: July 9, 2014
This is version 70 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM