HM13 (histocompatibility minor 13)

2014-08-01  

Identity

HGNC
HM13
LOCATION
20q11.21
LOCUSID
81502
ALIAS
H13,IMP1,IMPAS,IMPAS-1,MSTP086,PSENL3,PSL3,SPP,SPPL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81502
MIM: 607106
HGNC: 16435
Ensembl: ENSG00000101294

Variants:

dbSNP: 81502
ClinVar: 81502
TCGA: ENSG00000101294
COSMIC: HM13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101294ENST00000335574Q8TCT9
ENSG00000101294ENST00000340852Q8TCT9
ENSG00000101294ENST00000340852A0A0S2Z5V7
ENSG00000101294ENST00000344042A0A075B6F6
ENSG00000101294ENST00000398174Q8TCT9
ENSG00000101294ENST00000466766A0A3B3IUB5
ENSG00000101294ENST00000498035A0A0C4DGU3
ENSG00000101294ENST00000619859A0A087WVH6
ENSG00000101294ENST00000649374A0A0S2Z6F0
ENSG00000101294ENST00000649820A0A3B3IT72
ENSG00000101294ENST00000650367A0A0C4DGU3

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120774162002Identification of signal peptide peptidase, a presenilin-type aspartic protease.170
167385462006Signal peptide peptidase is required for dislocation from the endoplasmic reticulum.68
168343392006Signal peptide peptidase: biochemical properties and modulation by nonsteroidal antiinflammatory drugs.42
153855472004Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins.40
147041492004Signal peptide peptidase forms a homodimer that is labeled by an active site-directed gamma-secretase inhibitor.25
121394842002Novel class of polytopic proteins with domains associated with putative protease activity.21
129720072003Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development.9
216368542011Three-dimensional structure of the signal peptide peptidase.9
147413652004Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein.8
286244392017Signal peptide peptidase and SPP-like proteases - Possible therapeutic targets?8

Citation

Dessen P

HM13 (histocompatibility minor 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54362/hm13