Results for the protein: Q9UBX1

Results for the Protein: Q9UBX1

12643325

8722

CTSF

NCBI, UniProt

CATF_HUMAN RecName: Full=Cathepsin F; Short=CATSF; Flags: Precursor

Known Diseases associated with this Protein:
CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 (CLN13)

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: COG4870 - COG4870 Inhibitor_I29 - pfam08246 Inhibitor_I29 - smart00848 Peptidase_C1 - pfam00112 Peptidase_C1A_Cathep - cd02621 Pept_C1 - smart00645 Peptidase_C1A_Cathep - cd02698 Peptidase_C1A_Cathep - cd02620 Peptidase_C1A - cd02248 Peptidase_C1 - cd02619	Swiss-Prot Protein: Q9UBX1 Identical to: NP_003784 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_C1A_Cathep	cd02698	3.4e-14	271	484
Peptidase_C1A	cd02248	1.2e-104	272	481
Peptidase_C1A_Cathep	cd02620	1.2e-12	272	481
Peptidase_C1	cd02619	4.3e-34	274	483
COG4870	COG4870	1.2e-05	180	479
Peptidase_C1	pfam00112	2.3e-108	271	482
Inhibitor_I29	pfam08246	4.8e-14	187	244
Inhibitor_I29	smart00848	1.2e-16	187	243
Pept_C1	smart00645	2.5e-99	271	481

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79274952	Polymorphism	p.ALA140THR	N/A
dbSNP	rs545009	Polymorphism	p.ARG254SER	N/A
Swiss-Prot	VAR_051513	Polymorphism	p.GLN153ARG	N/A
Swiss-Prot	VAR_070160	Disease	p.GLN321ARG	Ceroid lipofuscinosis, neuronal, 13 (CLN13)
Swiss-Prot	VAR_070161	Disease	p.GLY458ALA	Ceroid lipofuscinosis, neuronal, 13 (CLN13)
Swiss-Prot	VAR_070162	Disease	p.SER480LEU	Ceroid lipofuscinosis, neuronal, 13 (CLN13)
Swiss-Prot	VAR_070159	Disease	p.TYR231CYS	Ceroid lipofuscinosis, neuronal, 13 (CLN13)
OMIM	603539.0001	Disease	p.GLN321ARG	CEROID LIPOFUSCINOSIS, NEURONAL, 13
OMIM	603539.0002	Disease	p.GLY458ALA	CEROID LIPOFUSCINOSIS, NEURONAL, 13
OMIM	603539.0003	Disease	p.SER480LEU	CEROID LIPOFUSCINOSIS, NEURONAL, 13
OMIM	603539.0004	Disease	p.TYR231CYS	CEROID LIPOFUSCINOSIS, NEURONAL, 13

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