Tissue expression of SHFM1 - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

SHFM1

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in several different tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Pending external verification.
Reliability score	Uncertain based on 1 antibody. HPA020429
	SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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.