H-Inv ID |
HIT000041717 |
H-Inv cluster ID |
HIX0006868
|
H-Inv protein ID |
HIP000097167
|
Accession number |
BC032782.1
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
7 |
Location |
7q21.3
|
Position |
96318084-
96339163
|
Strand |
-
|
Transcript feature
|
NO;
|
Coding potential
|
Protein coding;
|
Definition |
26S proteasome complex subunit DSS1; Deleted in split hand/split foot protein 1; Split hand/foot deleted protein 1; Split hand/foot malformation type 1 protein; |
Similarity category
|
Category: Identical to known human protein(Category I).
|
Identical to known human protein (P60896)
[Identity/coverage = 100.0%/100.0%] to
Homo sapiens (Human). protein.
|
Gene family / group |
NA
|
Gene symbol/name |
HGNC symbol |
SHFM1
|
HGNC aliases |
NA
|
HGNC name |
split hand/foot malformation (ectrodactyly) type 1
|
DDBJ |
SHFM1
|
UniProt |
SHFM1
|
EC number |
NA
|
KEGG metabolic pathway |
NA
|
PubMed ID |
8733122;
10373512;
12228710;
12853948;
15117943;
15489334;
17323924;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:7979;
|
KEGG GENES |
KEGG GENES(7979);
|
GeneCard |
SHFM1;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Auto-annotated
|
Notes |
NA
|