split hand/foot malformation (ectrodactyly) type 1

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Synonym

SHSF1, SHFD1, Shfdg1, SHFDG1, Split hand/foot malformation type 1 protein, Deleted in split hand/split foot protein 1, ECD, 26 proteasome complex subunit DSS1, split hand/foot malformation (ectrodactyly) type 1, SEM1, SHFM1, Split hand/foot deleted protein 1, DSS1

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:26.10 cerebellum:- brain stem:- corpus callosum/glia:58.30 pineal gland:- peripheral nerve:122.70 spine:- retina:- eye:35.30 artery/aorta:89.90 vein:399.90 lymphnode:161.80 peripheral blood:72.90 spleen:- thymus:12.90 bone marrow:78.70 adipose:40.30 bone:25.60 skin:81.60
GeneChip cerebrum:7.53 cerebellum:7.37 brain stem:7.59 corpus callosum/glia:7.71 pineal gland:- peripheral nerve:7.99 spine:7.76 retina:- eye:- artery/aorta:7.89 vein:8.58 lymphnode:8.13 peripheral blood:- spleen:7.77 thymus:8.44 bone marrow:7.61 adipose:8.19 bone:- skin:8.30
CAGE cerebrum:4.47 cerebellum:- brain stem:4.36 corpus callosum/glia:3.86 pineal gland:4.67 peripheral nerve:- spine:4.94 retina:- eye:- artery/aorta:4.60 vein:4.07 lymphnode:4.19 peripheral blood:- spleen:4.11 thymus:4.18 bone marrow:- adipose:4.01 bone:- skin:-
RNA-seq cerebrum:6.72 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:6.06 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:7.99 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:82 placenta:94.70 prostate:56.30 ovary:149.10 testis:82.20 heart:89.40 muscle:100.50 esophagus:- stomach:- intestine:- colon:229     liver/hepato:348.30        lung:78.20    bladder:- kidney:20.80 pituitary:116 thyroid/parathyroid:163.70 adrenal gland:253.90 pancreas:53.30 breast:37.20 salivary:-
GeneChip uterus:8.66 placenta:8.70 prostate:8.42 ovary:8.87 testis:8.90 heart:8.16 muscle:8.05 esophagus:8.70 stomach:7.96 intestine:8.08 colon:7.88 liver/hepato:8.26 lung:7.99 bladder:- kidney:7.73 pituitary:8.04 thyroid/parathyroid:8.25 adrenal gland:8.27 pancreas:8.07 breast:8.20 salivary:7.99
CAGE uterus:4.49 placenta:5.07 prostate:4.20 ovary:4.43 testis:4.92 heart:4.99 muscle:5.20 esophagus:4.58 stomach:- intestine:4.49 colon:4.32     liver/hepato:4.89    lung:4.28 bladder:4.48 kidney:4.52 pituitary:5.09 thyroid/parathyroid:4.31 adrenal gland:- pancreas:4.66 breast:4.04 salivary:4.94
RNA-seq uterus:- placenta:- prostate:6.87 ovary:8.15 testis:8.31 heart:6.08 muscle:6.23 esophagus:- stomach:- intestine:- colon:7.60     liver/hepato:7.27        lung:6.55    bladder:- kidney:6.50 pituitary:- thyroid/parathyroid:7.75 adrenal gland:7.86 pancreas:- breast:7.72 salivary:-

Gene Information

IDs

Refseq ID NM_006304
Gene ID 7979
Unigene ID Hs.489201
Probe set ID 202276_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000127922
GTEx ID ENSG00000127922

Orthologous Gene

Mouse[2]  NM_009169
Rat[1]  NM_001126090

Chromosomal Region

7q21.3  [96,110,938  -  96,339,203]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

1877619
1895319
8733122
9847074
9927667
10373512
12228710
12477932
12690205
12853948
15117943
15489334
15610744
16189514
16205630
16239144
17066443
17323924
17406092
17563742
18270339
18775730
18950845
19013454
19690177
20220765
20610542
20694011
20732625
20808887
20817001
21900206
21906983
22343721
23024267
23371468
23824909
24289229
24515614
24811749
24816145

Gene Ontology  (GO ID)

Biological Process

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

Cellular Component

GO:0032039  integrator complex
GO:0000502  proteasome complex

Molecular Function

GO:0008233  peptidase activity
GO:0005515  protein binding