SHFM1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several different tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA020429
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

7979

UniProt

P60896 (UniProt - Evidence at protein level), Q6ZVN7 (UniProt - Uncertain)

neXtProt

NX_P60896, NX_Q6ZVN7

Antibodypedia

SHFM1 antibodies


PROTEIN BROWSER

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ENST00000248566
 
ENST00000356686
 
ENST00000413065
 
ENST00000417009
 
ENST00000444799
 
ENST00000488005
 
ENST00000615352
 
ENST00000623498
 
ENST00000623693
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SHFM1-003 ENSP00000248566
ENST00000248566
P60896
Show all »
Show » Show » 70 8.3 No 0
SHFM1-005 ENSP00000478651
ENST00000488005
Show » 30 3.5 No 0
SHFM1-006 ENSP00000409481
ENST00000413065
F2Z309
Show all »
Show » 89 10.3 No 0
SHFM1-007 ENSP00000390049
ENST00000444799
F2Z2L7
Show all »
Show » 62 7.4 No 0
SHFM1-008 ENSP00000416322
ENST00000417009
F2Z2N6
Show all »
Show » 65 7.7 No 0
SHFM1-021 ENSP00000485341
ENST00000623498
Show » 57 6.8 No 0
SHFM1-022 ENSP00000485353
ENST00000623693
Show » 120 14 No 0
SHFM1-201 ENSP00000349114
ENST00000356686
Q6ZVN7
Show all »
Show » 128 14.1 No 0
SHFM1-202 ENSP00000481021
ENST00000615352
B7ZVW6
Show all »
Show » 118 12.9 No 0