Reviewed, UniProtKB/Swiss-Prot Q9MZS8 (CATD_SHEEP)

Names and origin

Protein names

Recommended name:
    Cathepsin D
    EC=3.4.23.5

Gene names

Name:

CTSD

Organism

Ovis aries (Sheep)

Taxonomic identifier

9940 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Laurasiatheria › Cetartiodactyla › Ruminantia › Pecora › Bovidae › Caprinae › Ovis

Protein attributes

Sequence length	365 AA.
Sequence status	Fragment.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Acid protease active in intracellular protein breakdown.
Catalytic activity	Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.
Subunit structure	Occurs as a mixture of both a single chain form and two types of two chain (light and heavy) forms By similarity.
Subcellular location	Lysosome. MelanosomeBy similarity.
Involvement in disease	Defects in CTSD are a cause of congenital ovine neuronal ceroid lipofuscinosis (CONCL). CONCL is an autosomal recessive disorder. Newborn lambs are weak, trembling, and unable to rise and support their bodies. However, they are able to vocalize, support their heads, and to suckle if bottle-fed. At autopsy, the brains of affected lambs are strikingly small. The deep layers of the cerebral cortex show pronounced neuronal loss, reactive astrocytosis, and infiltration of macrophages. There is severe degeneration of hippocampal pyramidal neurons.
Sequence similarities	Belongs to the peptidase A1 family.

Ontologies

Keywords
Cellular component	Lysosome
Disease	Disease mutation
Molecular function	Aspartyl protease Hydrolase Protease
PTM	Glycoprotein Zymogen
Gene Ontology (GO)
Cellular component	melanosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	cathepsin D activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Propeptide	‹1 – 39	›39	Activation peptide
	Chain	40 – ›365	›326	Cathepsin D
Sites
	Active site	72	1	By similarity
	Active site	268	1	By similarity
Amino acid modifications
	Glycosylation	109	1	N-linked (GlcNAc...) Potential
	Glycosylation	236	1	N-linked (GlcNAc...) Potential
	Disulfide bond	66 ↔ 135		By similarity
	Disulfide bond	85 ↔ 92		By similarity
	Disulfide bond	259 ↔ 263		By similarity
	Disulfide bond	302 ↔ 339		By similarity
Natural variations
	Natural variant	268	1	D → N in CONCL; inactive.
Experimental info
	Non-terminal residue	1	1
	Non-terminal residue	365	1

Sequences

	Sequence		Length	Mass (Da)
	Q9MZS8-1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 76A7BFE5BC45E9CB	FASTA	365	39,815
	10 20 30 40 50 60 LHKFTSNRRT MSEAMGPVEH LIAKGPISKY ATREPAVRQG PIPELLTNYM DAQYYGEIGI 70 80 90 100 110 120 GTPPQCFTVV FDTGSANLWV PSIHCKLLDI ACWVHHKYNS DKSSTYVKNG TTFDIHYGSG 130 140 150 160 170 180 SLSGYLSQDT VSVPCNPSSS SPGGVTVQRQ TFGEAIKQPG VVFIAAKFDG ILGMAYPRIS 190 200 210 220 230 240 VNNVLPVFDN LMRQKLVDKN VFSFFLNRDP KAQPGEELML GGTDSKYYRG SLTYHNVTRQ 250 260 270 280 290 300 AYWQIHMDQL DVGSSLTVCK GGCEAIVDTG TSLMVGPVDE VRELHKAIGA VPLIQGEYMI 310 320 330 340 350 360 PCEKVSSLPQ VTLKLGGKDY TLSPEDYTLK VSQAGTTVCL SGFMGMDIPP PGGPLWILGD VFIGR

References

[1]

"A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration." Tyynela J., Sohar I., Sleat D.E., Gin R.M., Donnelly R.J., Baumann M., Haltia M., Lobel P. EMBO J. 19:2786-2792(2000) [PubMed: 10856224] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CONCL ASN-268. Strain: White Swedish Landrace.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF164143 mRNA. Translation: AAF80494.1.
UniGene	Oar.758
3D structure databases
HSSP	HSSP built from PDB template 1LYB based on UniProtKB P07339.
SMR	Q9MZS8. Positions 143-365.
ModBase	Search...
Protein family/group databases
MEROPS	A01.009.
Phylogenomic databases
HOVERGEN	Q9MZS8.
Family and domain databases
InterPro	IPR001969. Pept_Asp_AS. IPR009007. Pept_Aspartc_cat. IPR001461. Peptidase_A1. [Graphical view]
Gene3D	G3DSA:2.40.70.10. Pept_Aspartc_cat. 1 hit.
PANTHER	PTHR13683. Peptidase_A1. 1 hit.
Pfam	PF00026. Asp. 1 hit. [Graphical view]
PRINTS	PR00792. PEPSIN.
PROSITE	PS00141. ASP_PROTEASE. 2 hits. [Graphical view]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

Entry information

Entry name

CATD_SHEEP

Accession

Primary (citable) accession number: Q9MZS8

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	October 1, 2000
Last modified:	July 22, 2008
This is version 53 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)