P60896 (DSS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
26S proteasome complex subunit DSS1

Alternative name(s):
Deleted in split hand/split foot protein 1
Split hand/foot deleted protein 1
Split hand/foot malformation type 1 protein

Gene names

Name:	SHFM1
Synonyms:	DSS1, SHFDG1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	70 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis. Ref.5
Subunit structure	Part of the 26S proteasome. Interacts with the C-terminal of BRCA2. Ref.4
Tissue specificity	Expressed in limb bud, craniofacial primordia and skin.
Sequence similarities	Belongs to the DSS1/SEM1 family.

Ontologies

Keywords
Cellular component	Proteasome
Coding sequence diversity	Polymorphism
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	proteolysis Inferred from direct assay Ref.4. Source: UniProtKB
Cellular component	proteasome complex Inferred from direct assay Ref.5. Source: UniProtKB
Molecular function	peptidase activity Inferred from direct assay Ref.4. Source: UniProtKB protein binding Inferred from physical interaction Ref.4. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BRCA2	P51587	4	EBI-79819,EBI-79792

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 70

70

26S proteasome complex subunit DSS1

PRO_0000122961

Regions

Compositional bias

14 – 21

8

Asp/Glu-rich (highly acidic)

Compositional bias

31 – 35

5

Asp/Glu-rich (highly acidic)

Compositional bias

40 – 51

12

Asp/Glu-rich (highly acidic)

Natural variations

Natural variant

17

1

D → G.
Corresponds to variant rs1802882 [ dbSNP | Ensembl ].

VAR_012003

Secondary structure

1

.

.

.

.

.

.

.

70

Helix Strand Turn

Details...

Turn

10 – 12

3

Helix

50 – 52

3

Helix

58 – 61

4

Sequences

	Sequence		Length	Mass (Da)
	P60896 [UniParc]. Last modified April 13, 2004. Version 1. Checksum: 0E0F58D2F3D9F723	FASTA	70	8,278
	10 20 30 40 50 60 MSEKKQPVDL GLLEEDDEFE EFPAEDWAGL DEDEDAHVWE DNWDDDNVED DFSNQLRAEL 70 EKHGYKMETS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development." Crackower M.A., Scherer S.W., Rommens J.M., Hui C.-C., Poorkaj P., Soder S., Cobben J.M., Hudgins L., Evans J.P., Tsui L.-C. Hum. Mol. Genet. 5:571-579(1996) [PubMed: 8733122] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[4]	"Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals." Marston N.J., Richards W.J., Hughes D., Bertwistle D., Marshall C.J., Ashworth A. Mol. Cell. Biol. 19:4633-4642(1999) [PubMed: 10373512] [Abstract] Cited for: INTERACTION WITH BRCA2.
[5]	"Sem1p is a novel subunit of the 26S proteasome from Saccharomyces cerevisiae." Sone T., Saeki Y., Toh-e A., Yokosawa H. J. Biol. Chem. 279:28807-28816(2004) [PubMed: 15117943] [Abstract] Cited for: FUNCTION.
[6]	"Mass spectrometric characterization of the affinity-purified human 26S proteasome complex." Wang X., Chen C.-F., Baker P.R., Chen P.-L., Kaiser P., Huang L. Biochemistry 46:3553-3565(2007) [PubMed: 17323924] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney.
[7]	"BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure." Yang H., Jeffrey P.D., Miller J., Kinnucan E., Sun Y., Thoma N.H., Zheng N., Chen P.L., Lee W.H., Pavletich N.P. Science 297:1837-1848(2002) [PubMed: 12228710] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (3.4 ANGSTROMS) IN COMPLEX WITH BRCA2.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U41515 mRNA. Translation: AAA91179.1.
AC073230 Genomic DNA. Translation: AAQ93368.1.
BC032782 mRNA. Translation: AAH32782.1.

IPI

IPI00013266.

PIR

G02284.

RefSeq

NP_006295.1. NM_006304.1.

UniGene

Hs.489201.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1IYJ	X-ray	3.40	A/C	1-70	[»]
1MIU	X-ray	3.10	B	1-70	[»]
1MJE	X-ray	3.50	B	1-70	[»]

ProteinModelPortal

P60896.

SMR

P60896. Positions 6-63.

ModBase

Search...

Protein-protein interaction databases

IntAct

P60896. 3 interactions.

STRING

P60896.

Polymorphism databases

DMDM

46397408.

Proteomic databases

PRIDE

P60896.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000248566; ENSP00000248566; ENSG00000127922.

GeneID

7979.

KEGG

hsa:7979.

UCSC

uc003uoi.1. human.

Organism-specific databases

CTD

7979.

GeneCards

GC07M096156.

H-InvDB

HIX0006868.

HGNC

HGNC:10845. SHFM1.

MIM

601285. gene.

neXtProt

NX_P60896.

Orphanet

2440. Split hand - split foot.
71271. Split hand - split foot - deafness.

PharmGKB

PA35749.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG21792.

HOVERGEN

HBG005536.

InParanoid

P60896.

OMA

HLESKKM.

PhylomeDB

P60896.

Gene expression databases

ArrayExpress

P60896.

Bgee

P60896.

CleanEx

HS_SHFM1.

Genevestigator

P60896.

GermOnline

ENSG00000127922. Homo sapiens.

Family and domain databases

InterPro

IPR007834. DSS1_SEM1.
[Graphical view]

KO

K10881.

PANTHER

PTHR16771. DSS1_SEM1. 1 hit.

Pfam

PF05160. DSS1_SEM1. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

30504.

SOURCE

Search...

Entry information

Entry name

DSS1_HUMAN

Accession

Primary (citable) accession number: P60896
Secondary accession number(s): Q13437, Q61067

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 13, 2004
Last sequence update:	April 13, 2004
Last modified:	January 25, 2012
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.