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Q6IEE8

- SN12L_HUMAN

UniProt

Q6IEE8 - SN12L_HUMAN

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Protein

Schlafen family member 12-like

Gene

SLFN12L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. ATP binding Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Schlafen family member 12-like
Gene namesi
Name:SLFN12L
Synonyms:SLFN5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:33920. SLFN12L.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162403886.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 588588Schlafen family member 12-likePRO_0000336097Add
BLAST

Proteomic databases

PaxDbiQ6IEE8.
PRIDEiQ6IEE8.

PTM databases

PhosphoSiteiQ6IEE8.

Expressioni

Gene expression databases

BgeeiQ6IEE8.
CleanExiHS_SLFN12L.
HS_SLFN5.
ExpressionAtlasiQ6IEE8. baseline and differential.
GenevestigatoriQ6IEE8.

Organism-specific databases

HPAiHPA024447.

Interactioni

Protein-protein interaction databases

BioGridi131188. 2 interactions.
STRINGi9606.ENSP00000354412.

Structurei

3D structure databases

ProteinModelPortaliQ6IEE8.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei566 – 58621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the Schlafen family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG27497.
GeneTreeiENSGT00410000025651.
HOGENOMiHOG000133056.
HOVERGENiHBG057499.
InParanoidiQ6IEE8.
OrthoDBiEOG7GTT3N.
TreeFamiTF337168.

Family and domain databases

InterProiIPR007421. ATPase_AAA-4.
IPR029684. Schlafen.
[Graphical view]
PANTHERiPTHR12155. PTHR12155. 1 hit.
PfamiPF04326. AAA_4. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6IEE8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MDLARKEFLR GNGLAAGKMN ISIDLDTNYA ELVLNVGRVT LGENNRKKMK
60 70 80 90 100
DCQLRKQQNE NVSRAVCALL NSGGGVIKAE VENKGYSYKK DGIGLDLENS
110 120 130 140 150
FSNMLPFVPN FLDFMQNGNY FHIFVKSWSL ETSGPQIATL SSSLYKRDVT
160 170 180 190 200
SAKVMNASAA LEFLKDMEKT GGRAYLRPEF PAKRACVDVQ EESNMEALAA
210 220 230 240 250
DFFNRTELGY KEKLTFTEST HVEIKNFSTE KLLQRITEIL PQYVSAFANT
260 270 280 290 300
DGGYLFVGLN EDKEVIGFKA EKSYLTKLEE VTKNSIGKLP VHHFCVEKGT
310 320 330 340 350
INYLCKFLGV YDKGRLCGYV YALRVERFCC AVFAKKPDSW HVKDNRVKQL
360 370 380 390 400
TEKEWIQFMV DSEPVCEELP SPASTSSPVS QSYPLREYIN FKIQPLRYHL
410 420 430 440 450
PGLSEKITCA PKTFCRNLFS QHEGLKQLIC EEMGSVNKGS LIFSRSWSLD
460 470 480 490 500
LGLQENHKVL CDALLISQDK PPVLYTFHMV QDEEFKDYST QTAQTLKQKL
510 520 530 540 550
AKIGGYTKKV CVMTKIFYLS PEGKTSCQYD LNSQVIYPES YYWTTAQTMK
560 570 580
DLEKALSNIL PKENQIFLFV CLFRFCLFVC WFVCFFLR

Note: Gene prediction based on similarity to Pongo abelii ortholog.

Length:588
Mass (Da):67,096
Last modified:May 14, 2014 - v4
Checksum:iC8B7C194140C6A50
GO
Isoform 2 (identifier: Q6IEE8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MDLA → MAMKIMEKIRNVFHCEAHRILYICESQFLRNFI

Show »
Length:617
Mass (Da):70,734
Checksum:i2E14C83E8AB76200
GO

Sequence cautioni

The sequence CAD80167.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q6IEE8-2)
Sequence conflicti13 – 131F → S in AK172761. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti275 – 2751L → S.
Corresponds to variant rs12451679 [ dbSNP | Ensembl ].
VAR_043551
Natural varianti373 – 3731A → G.
Corresponds to variant rs2304967 [ dbSNP | Ensembl ].
VAR_043552
Natural varianti430 – 4301C → Y.
Corresponds to variant rs2304968 [ dbSNP | Ensembl ].
VAR_043553
Natural varianti518 – 5181Y → S.
Corresponds to variant rs3744372 [ dbSNP | Ensembl ].
VAR_043554

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 44MDLA → MAMKIMEKIRNVFHCEAHRI LYICESQFLRNFI in isoform 2. 1 PublicationVSP_040137

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK172761 mRNA. No translation available.
AC015911 Genomic DNA. No translation available.
BN000147 mRNA. Translation: CAD80167.1. Sequence problems.
CCDSiCCDS56026.1. [Q6IEE8-1]
RefSeqiNP_001182719.1. NM_001195790.1. [Q6IEE8-1]
UniGeneiHs.447559.

Genome annotation databases

EnsembliENST00000260908; ENSP00000437635; ENSG00000205045. [Q6IEE8-1]
ENST00000361112; ENSP00000354412; ENSG00000205045. [Q6IEE8-2]
GeneIDi100506736.
KEGGihsa:100506736.
UCSCiuc002hjn.3. human. [Q6IEE8-2]

Polymorphism databases

DMDMi313104287.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK172761 mRNA. No translation available.
AC015911 Genomic DNA. No translation available.
BN000147 mRNA. Translation: CAD80167.1 . Sequence problems.
CCDSi CCDS56026.1. [Q6IEE8-1 ]
RefSeqi NP_001182719.1. NM_001195790.1. [Q6IEE8-1 ]
UniGenei Hs.447559.

3D structure databases

ProteinModelPortali Q6IEE8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131188. 2 interactions.
STRINGi 9606.ENSP00000354412.

PTM databases

PhosphoSitei Q6IEE8.

Polymorphism databases

DMDMi 313104287.

Proteomic databases

PaxDbi Q6IEE8.
PRIDEi Q6IEE8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260908 ; ENSP00000437635 ; ENSG00000205045 . [Q6IEE8-1 ]
ENST00000361112 ; ENSP00000354412 ; ENSG00000205045 . [Q6IEE8-2 ]
GeneIDi 100506736.
KEGGi hsa:100506736.
UCSCi uc002hjn.3. human. [Q6IEE8-2 ]

Organism-specific databases

CTDi 100506736.
GeneCardsi GC17M033791.
HGNCi HGNC:33920. SLFN12L.
HPAi HPA024447.
MIMi 614956. gene.
neXtProti NX_Q6IEE8.
PharmGKBi PA162403886.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27497.
GeneTreei ENSGT00410000025651.
HOGENOMi HOG000133056.
HOVERGENi HBG057499.
InParanoidi Q6IEE8.
OrthoDBi EOG7GTT3N.
TreeFami TF337168.

Miscellaneous databases

GenomeRNAii 100506736.
NextBioi 34054390.
PROi Q6IEE8.
SOURCEi Search...

Gene expression databases

Bgeei Q6IEE8.
CleanExi HS_SLFN12L.
HS_SLFN5.
ExpressionAtlasi Q6IEE8. baseline and differential.
Genevestigatori Q6IEE8.

Family and domain databases

InterProi IPR007421. ATPase_AAA-4.
IPR029684. Schlafen.
[Graphical view ]
PANTHERi PTHR12155. PTHR12155. 1 hit.
Pfami PF04326. AAA_4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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).

Entry informationi

Entry nameiSN12L_HUMAN
AccessioniPrimary (citable) accession number: Q6IEE8
Secondary accession number(s): F5H6G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 14, 2014
Last modified: October 29, 2014
This is version 73 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3