SEM1 - SEM1 26S proteasome subunit Gene

Also Known as ECD; DSS1; SHFD1; SHFM1; SHSF1; PSMD15; Shfdg1; C7orf76

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7979

About SEM1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:96,481,626-96,709,846 (from NCBI)

This gene has 24 transcripts (splice variants), 155 orthologues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 89.9), colon (RPKM 83.9) and 25 other tissues.

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]

SEM1 Products (10)

mRNA	Protein	Name
NM_001393898.1	NP_001380827.1	26S proteasome complex subunit SEM1 isoform a
NM_001393899.1	NP_001380828.1	26S proteasome complex subunit SEM1 isoform a
NM_001393900.1	NP_001380829.1	26S proteasome complex subunit SEM1 isoform b
NM_001393901.1	NP_001380830.1	26S proteasome complex subunit SEM1 isoform d
NM_001393902.1	NP_001380831.1	26S proteasome complex subunit SEM1 isoform e
NM_001393903.1	NP_001380832.1	26S proteasome complex subunit SEM1 isoform f
NM_001393904.1	NP_001380833.1	26S proteasome complex subunit SEM1 isoform g
NM_001393905.1	NP_001380834.1	26S proteasome complex subunit SEM1 isoform h
NM_001393906.1	NP_001380835.1	26S proteasome complex subunit SEM1 isoform i
NM_006304.2	NP_006295.1	26S proteasome complex subunit SEM1 isoform c

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10373512	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of integrator complex	IDA IDA: Inferred from direct assay	16239144	GOA
part of proteasome complex	IDA IDA: Inferred from direct assay	15117943	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26833090	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEM1 Protein Structure

DSS1_SEM1

0
70 a.a.

Protein Preferred Names	Protein Names
26S proteasome complex subunit SEM1	26S proteasome complex subunit DSS1

SEM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SEM1	P60896	PCID2	Homo sapiens	Q5JVF3	Anti Tag CoIP	35271311
Intra	SEM1	P60896	PCID2	Homo sapiens	Q5JVF3	Validated Y2H	32296183
Intra	SEM1	P60896	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
Intra	SEM1	P60896	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
Intra	SEM1	P60896	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
Intra	SEM1	P60896	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	SEM1	P60896	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	SEM1	P60896	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	SEM1	P60896	PSMD3	Homo sapiens	O43242	Anti Tag CoIP	35271311
Intra	SEM1	P60896	FUS	Homo sapiens	P35637	Y2H Pooling	32814053
Intra	SEM1	P60896	LRRK2	Homo sapiens	Q5S007	Y2H Array	32814053
Intra	SEM1	P60896	LRRK2	Homo sapiens	Q5S007	Y2H Pooling	32814053
Intra	SEM1	P60896	LRRK2	Homo sapiens	Q5S007	Validated Y2H	32814053
Intra	SEM1	P60896	BRCA2	Homo sapiens	P51587	CoIP	10373512
Intra	SEM1	P60896	BRCA2	Homo sapiens	P51587	Y2H	10373512

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Split Hand-Foot Malformation	Ectrodactyly Split-Hand/Foot Malformation Lobster-Claw Deformity Split-Hand Deformity Split Hand Foot Malformation Shfm Split Hand Foot Deformity Split Hand Foot Deformity 1
Isolated Split Hand-Split Foot Malformation	Ectrodactyly Shfm Split Hand Foot Malformation Split-Hand/Foot Malformation Split Hand Foot Deformity 1 Split Hand Foot Deformity
Split-Hand/Foot Malformation 4	SHFM4 Split Hand-Foot Malformation 4 Split-Hand/Foot Malformation, Type 4
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand/Foot Malformation 3	SHFM3 Split Hand-Foot Malformation 3 Chromosome 10q24 Duplication Syndrome Shsf3 Limb Deficiencies, Distal, With Micrognathia Split-Hand/Foot Malformation 3, Gene Duplication Syndrome Distal Limb Deficiencies With Micrognathia Limb Deficiencies Distal With Micrognathia Buttiens Fryns Syndrome Distal Limb Deficiencies-Micrognathia Syndrome 10q24 Microduplication Syndrome Buttiens-Fryns Syndrome Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome
Orofacial Cleft 4	OFC4 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 4 Nonsyndromic Cleft Lip With Or Without Cleft Palate 4
Citrullinemia, Type Ii, Neonatal-Onset	NICCD Citrin Deficiency Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency Citrullinemia, Type Ii, Neonatal-Onset, With Or Without Failure To Thrive And Dyslipidemia Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency Neonatal-Onset Type Ii Citrullinemia Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency Neonatal-Onset Citrullinemia Type 2 Neonatal-Onset Citrullinemia Type Ii Neonatal-Onset Type 2 Citrullinemia Adult-Onset Citrullinemia Type 2
Split-Hand/Foot Malformation 5	Split Hand-Foot Malformation 5 SHFM5
Split-Hand/Foot Malformation 1	Ectrodactyly Split Hand-Foot Malformation 1 SHFM1 Shfd1 Split-Hand Deformity Split-Hand/Foot Malformation 1 With Or Without Deafness Split-Hand/Foot Deformity 1 Ecd Split Hand/Foot Malformation Type 1 Split Hand Foot Deformity 1 Split-Hand/Foot Malformation
Paranoid Personality Disorder
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12649	SEM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SEM1	MGD	MGI:109238
Rattus norvegicus	SEM1	RGD	RGD:1590628