2. Gene
  3. SEM1 - SEM1 26S proteasome subunit Gene

SEM1 - SEM1 26S proteasome subunit Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 7979 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10373512 GOA
Cellular Component GO Annotation Evidence Reference 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

DSS1_SEM1: DSS1/SEM1 family (4 - 63)

  • 0
  • 70 a.a.
Protein Preferred Names Protein Names

26S proteasome complex subunit SEM1

26S proteasome complex subunit DSS1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12649 SEM1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

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