HuLPr46131

Uniprot ID

SPTCS_HUMAN

Uniprot Acc

Q96JI7;A8KAX9;Q4VC11;Q58G86;Q69YG6;Q6NW01;Q8N270;Q8TBU9;Q9H734;

Protein name

Spatacsin

Comment

SUBUNIT:Interacts with KIAA0415, DKFZp761E198, C20orf29 and ZFYVE26.||SUBCELLULAR LOCATION:Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytosol. Nucleus. Note=Mainly cytoplasmic.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96JI7-1; Sequence=Displayed; Name=2; IsoId=Q96JI7-2; Sequence=VSP 025483, VSP 025484; Note=No experimental confirmation available;||TISSUE SPECIFICITY:Expressed in all structures of brain, with a high expression in cerebellum.||PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.||DISEASE:Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms,

Subcellular localization

Membrane;Multi-pass membrane protein(Potential).Cytoplasm, cytosol.Nucleus.

Gene name

spastic paraplegia 11 (autosomal recessive)

Protein sequence

MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQ LGSRAQLRTQPEALGSLTAAGSLQVLSLTPGSRGGGRCC LEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEF NLKDGRCDATILYSCSREALQKLIDDQDISISLLSLRIL SFHNNTSLLFINKCVILHIIFPERDAAIRVLNCFTLPLP AQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAH VDLALHKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIV SSSNSAVALNLNLYFRQHPGHLLCERILEDLPIQGPKGV DEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNS KLEVSCCAPWFQDILHLESPESGNHSTSVQSWAFIPQDI MHGQYNVLQKDHAKTSDPGRSWKIMHISEQEEPIELKCV SVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKC IPVDSSGDQQLCFVLTENGLSLILFGLTQEEFLNRLMIH GSASTVDTLCHLNGWGRCSIPIHALEAGIENRQLDTVNF FLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPA LDLLCSAIRESYSEPQSKHFSEQLLNLTLSFLNNQIKEL FIHTEELDEHLQKGVNILTSYINELRTFMIKFPWKLTDA IDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPE AQTFFRIDSHSAQKLEELIGIGLNLVFDNLKKNNIKEAS ELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKNY FSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKE QDFFKHKSVLDSFLKYDCKDEFNKQDHRIVLNWALWWDQ LTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIIL WIGEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRN EILDKLARNGVFLASELEDFECFLLRLSRIGGVIQDTLP VQNYKTKEGWDFHSQFILYCLEHS

Database cross reference

RefSeq Protein accession:NP_001153699
RefSeq Protein gi:237681069

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Liver Organelles;

GO:0005829;C:cytosol;IEA:UniProtKB-SubCell. GO:0016021;C:integral to membrane;IEA:UniProtKB-KW. GO:0005634;C:nucleus;IEA:UniProtKB-SubCell.

GO-F

GO:0005515;F:protein binding;IPI:UniProtKB.

GO-P

GO:0008219;P:cell death;IEA:UniProtKB-KW.

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr46131

PHOSPHORYLATION

1955

S

Phospho-ELM

22055

HTP

N

HuLPr46131

PHOSPHORYLATION

1957

S

Phospho-ELM

38130

HTP

N

HuLPr46131

PHOSPHORYLATION

1958

S

Phospho-ELM

22056

HTP

N

HuLPr46131

PHOSPHORYLATION

1961

S

Phospho-ELM

22057

HTP

N

HuLPr46131

PHOSPHORYLATION

1966

T

Phospho-ELM

38131

HTP

N

HuLPr46131

PHOSPHORYLATION

1955

S

PhosphoSitePlus

482126

LTP

N

HuLPr46131

PHOSPHORYLATION

1958

S

PhosphoSitePlus

482127

HTP

N

HuLPr46131

PHOSPHORYLATION

1961

S

PhosphoSitePlus

482128

LTP

N

HuLPr46131

PHOSPHORYLATION

2169

Y

PhosphoSitePlus

462156

LTP

HTP

N

HuLPr46131

PHOSPHORYLATION

1957

S

PhosphoSitePlus

3209298

LTP

N

HuLPr46131

PHOSPHORYLATION

1966

T

PhosphoSitePlus

3209301

LTP

N

HuLPr46131

PHOSPHORYLATION

1956

T

PhosphoSitePlus

4719618

LTP

N

HuLPr46131

PHOSPHORYLATION

2174

Y

PhosphoSitePlus

464978

LTP

N