Cell atlas - SHFM1 - The Human Protein Atlas

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SHFM1

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol

Human cell
	Cytosol

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GENERAL INFORMATION
Gene name	SHFM1
Gene description	Split hand/foot malformation (ectrodactyly) type 1
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cytosol.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Cytosol (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA072648
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the cytosol.

Main location

Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA072648	MCF7	No staining
	HPA072648	SiHa	Cytosol
	HPA072648	U-2 OS	No staining

GENE INFORMATION
Gene name	SHFM1 (HGNC Symbol)
Synonyms	DSS1, ECD, SEM1, SHFD1, Shfdg1, SHSF1
Description	Split hand/foot malformation (ectrodactyly) type 1 (HGNC Symbol)
Entrez gene summary	The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Chromosome	7
Cytoband	q21.3
Chromosome location (bp)	96481626 - 96709891
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000127922 (version 83.38)
Entrez gene	7979
UniProt	P60896 (UniProt - Evidence at protein level), Q6ZVN7 (UniProt - Uncertain)
neXtProt	NX_P60896, NX_Q6ZVN7
Antibodypedia	SHFM1 antibodies

PROTEIN BROWSER

SHFM1-003	SHFM1-005	SHFM1-006	SHFM1-007	SHFM1-008	SHFM1-021	SHFM1-022	SHFM1-201	SHFM1-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SHFM1-003 ENSP00000248566 ENST00000248566	P60896 [Direct mapping] 26S proteasome complex subunit DSS1 Q6IBB7 [Target identity:100%; Query identity:100%] SHFM1 protein; Split hand/foot malformation (Ectrodactyly) type 1; Split hand/foot malformation (Ectrodactyly) type 1, isoform CRA_a; cDNA FLJ76393, highly similar to Homo sapiens split hand/foot malformation (ectrodactyly) type 1 (SHFM1), mRNA Show all	Predicted intracellular proteins Show all	GO:0000502 [proteasome complex] GO:0000724 [double-strand break repair via homologous recombination] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006508 [proteolysis] GO:0032039 [integrator complex] Show all	70 aa 8.3 kDa	No	0
SHFM1-005 ENSP00000478651 ENST00000488005	A0A087WUG5 [Direct mapping] 26S proteasome complex subunit DSS1 Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	30 aa 3.5 kDa	No	0
SHFM1-006 ENSP00000409481 ENST00000413065	F2Z309 [Direct mapping] 26S proteasome complex subunit DSS1 Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	89 aa 10.3 kDa	No	0
SHFM1-007 ENSP00000390049 ENST00000444799	F2Z2L7 [Direct mapping] 26S proteasome complex subunit DSS1 Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	62 aa 7.4 kDa	No	0
SHFM1-008 ENSP00000416322 ENST00000417009	F2Z2N6 [Direct mapping] 26S proteasome complex subunit DSS1 Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	65 aa 7.7 kDa	No	0
SHFM1-021 ENSP00000485341 ENST00000623498	A0A096LP17 [Direct mapping] 26S proteasome complex subunit DSS1; Split hand/foot malformation (Ectrodactyly) type 1, isoform CRA_b Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	57 aa 6.8 kDa	No	0
SHFM1-022 ENSP00000485353 ENST00000623693	A0A096LP28 [Direct mapping] 26S proteasome complex subunit DSS1 Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	120 aa 14 kDa	No	0
SHFM1-201 ENSP00000349114 ENST00000356686	Q6ZVN7 [Target identity:100%; Query identity:100%] Putative uncharacterized protein C7orf76 Show all	Predicted intracellular proteins Show all		128 aa 14.1 kDa	No	0
SHFM1-202 ENSP00000481021 ENST00000615352	B7ZVW6 [Direct mapping] 26S proteasome complex subunit DSS1; FLJ42280 protein Show all	Predicted intracellular proteins Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0005634 [nucleus] GO:0006508 [proteolysis] Show all	118 aa 12.9 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.