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0  structures 177  species 0  interactions 201  sequences 6  architectures

Family: OSTMP1 (PF09777)

Summary: Osteopetrosis-associated transmembrane protein 1 precursor

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This is the Wikipedia entry entitled "OSTM1". More...

OSTM1 Edit Wikipedia article

OSTM1
Identifiers
Aliases OSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1
External IDs MGI: 2655574 HomoloGene: 32203 GeneCards: OSTM1
RNA expression pattern
PBB GE OSTM1 218196 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014028

NM_172416

RefSeq (protein)

NP_054747

NP_766004.1
NP_766004

Location (UCSC) Chr 6: 108.04 – 108.17 Mb Chr 10: 42.58 – 42.7 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
Osteopetrosis-associated transmembrane protein 1 precursor
Identifiers
Symbol OSTMP1
Pfam PF09777
InterPro IPR019172

Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.[3][4][5] It is required for osteoclast and melanocyte maturation and function.[3]

Function

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.[5] This is also known as autosomal recessive Albers-Schonberg disease.[3][6]

The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[7][8]

Interactions

OSTM1 has been shown to interact with RGS19.[9]

References

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J (Apr 2003). "Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human". Nat Med. 9 (4): 399–406. doi:10.1038/nm842. PMID 12627228. 
  4. ^ Abrahams BS, Mak GM, Berry ML, Palmquist DL, Saionz JR, Tay A, Tan YH, Brenner S, Simpson EM, Venkatesh B (Jun 2002). "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci". Genomics. 80 (1): 45–53. doi:10.1006/geno.2002.6795. PMID 12079282. 
  5. ^ a b "Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1". 
  6. ^ Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, Rucci F, Lucchini F, Ravanini M, Facchetti F, Abinun M, Vezzoni P, Villa A, Frattini A (July 2006). "Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement". J. Bone Miner. Res. 21 (7): 1098–105. doi:10.1359/jbmr.060403. PMID 16813530. 
  7. ^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. doi:10.1074/jbc.M608572200. PMID 17105730. 
  8. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  9. ^ Fischer T, De Vries L, Meerloo T, Farquhar MG (Jul 2003). "Promotion of Gαi3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP". Proc. Natl. Acad. Sci. U.S.A. 100 (14): 8270–5. doi:10.1073/pnas.1432965100. PMC 166218Freely accessible. PMID 12826607. 

Further reading

This article incorporates text from the public domain Pfam and InterPro IPR019172


This page is based on a Wikipedia article. The text is available under the Creative Commons Attribution/Share-Alike License.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

Osteopetrosis-associated transmembrane protein 1 precursor Provide feedback

Members of this family of proteins are required for osteoclast and melanocyte maturation and function. Mutations give rise to autosomal recessive osteopetrosis 259700; also called autosomal recessive Albers-Schonberg disease.

Literature references

  1. Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J; , Nat Med. 2003;9:399-406.: Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. PUBMED:12627228 EPMC:12627228


This tab holds annotation information from the InterPro database.

InterPro entry IPR019172

Osteopetrosis-associated transmembrane protein 1 (OSTM1) is required for osteoclast and melanocyte maturation and function. Mutations in OSTM1 give rise to autosomal recessive osteopetrosis, also called autosomal recessive Albers-Schonberg disease [PUBMED:12627228, PUBMED:16813530].

Domain organisation

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(18)
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RP75
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  Seed
(18)
Full
(201)
Representative proteomes UniProt
(348)
NCBI
(454)
Meta
(0)
RP15
(71)
RP35
(112)
RP55
(166)
RP75
(199)
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  Seed
(18)
Full
(201)
Representative proteomes UniProt
(348)
NCBI
(454)
Meta
(0)
RP15
(71)
RP35
(112)
RP55
(166)
RP75
(199)
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Seed source: KOGs (KOG4617)
Previous IDs: none
Type: Family
Author: KOGs, Finn RD, Sammut SJ
Number in seed: 18
Number in full: 201
Average length of the domain: 203.80 aa
Average identity of full alignment: 30 %
Average coverage of the sequence by the domain: 76.11 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 26740544 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 24.5 24.5
Trusted cut-off 24.6 25.4
Noise cut-off 24.2 24.4
Model length: 237
Family (HMM) version: 8
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