InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SHFM1

Summary

InnateDB Protein

IDBP-28032.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SHFM1

Protein Name

split hand/foot malformation (ectrodactyly) type 1

Synonyms

DSS1; ECD; SEM1; SHFD1; Shfdg1; SHSF1;

Species

Homo sapiens

Ensembl Protein

ENSP00000248566

InnateDB Gene

IDBG-28030 (SHFM1)

Protein Structure

UniProt Annotation

Function

Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis. {ECO:0000269PubMed:15117943}.

Subcellular Localization

Disease Associations

Tissue Specificity

Expressed in limb bud, craniofacial primordia and skin.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 146 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	146 [view]
Protein-Protein	145 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008233	peptidase activity

Biological Process

GO:0000724	double-strand break repair via homologous recombination
GO:0006508	proteolysis

Cellular Component

GO:0000502	proteasome complex
GO:0032039	integrator complex

Protein Structure and Domains

PDB ID

InterPro

IPR007834 DSS1/SEM1

PFAM

PF05160

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P60896

PhosphoSite

PhosphoSite-P60896

TrEMBL

Q6IBB7

UniProt Splice Variant

Entrez Gene

7979

UniGene

Hs.734935

RefSeq

NP_006295

HUGO

HGNC:10845

OMIM

601285

CCDS

CCDS5646

HPRD

03182

IMGT

EMBL

AC073230 AK291070 BC032782 CH236949 CH471091 CR456887 U41515

GenPept

AAA91179 AAH32782 AAQ93368 BAF83759 CAG33168 EAL24125 EAW76746