Q86WC4 (OSTM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Osteopetrosis-associated transmembrane protein 1

Gene names

Name:	OSTM1
Synonyms:	GL
ORF Names:	HSPC019, UNQ6098/PRO21201

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	334 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for osteoclast and melanocyte maturation and function By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein By similarity.
Involvement in disease	Defects in OSTM1 are the cause of osteopetrosis autosomal recessive type 5 (OPTB5) [MIM:259720]; also called infantile malignant osteopetrosis 3. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. Ref.1 Ref.9
Sequence caution	The sequence AAD27000.1 differs from that shown. Reason: Frameshift at position 221.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Osteopetrosis
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 334	303	Osteopetrosis-associated transmembrane protein 1		PRO_0000021963
Regions
	Topological domain	32 – 284	253	Extracellular Potential
	Transmembrane	285 – 305	21	Helical; Potential
	Topological domain	306 – 334	29	Cytoplasmic Potential
Amino acid modifications
	Modified residue	114	1	Phosphothreonine By similarity
	Modified residue	116	1	Phosphotyrosine By similarity
	Modified residue	322	1	Phosphoserine Ref.10 Ref.11 Ref.12
	Modified residue	323	1	Phosphoserine Ref.10 Ref.11
	Modified residue	325	1	Phosphoserine Ref.10 Ref.11 Ref.12
	Modified residue	333	1	Phosphoserine Ref.10 Ref.11
	Glycosylation	93	1	N-linked (GlcNAc...) Potential
	Glycosylation	128	1	N-linked (GlcNAc...) Potential
	Glycosylation	135	1	N-linked (GlcNAc...) Potential
	Glycosylation	163	1	N-linked (GlcNAc...) Potential
	Glycosylation	177	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
	Glycosylation	194	1	N-linked (GlcNAc...) Potential
	Glycosylation	216	1	N-linked (GlcNAc...) Potential
	Glycosylation	263	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	52	1	L → F. Corresponds to variant rs9480830 [ dbSNP | Ensembl ].		VAR_051257
Experimental info
	Sequence conflict	87	1	L → P in BAC11351. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q86WC4 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 108719C2FDC5853D	FASTA	334	37,257
	10 20 30 40 50 60 MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ QLLEVEDLSL 70 80 90 100 110 120 SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG CLVRSARPVR LCQTCYPLFQ 130 140 150 160 170 180 QVVSKMDNIS RAAGNTSESQ SCARSLLMAD RMQIVVILSE FFNTTWQEAN CANCLTNNSE 190 200 210 220 230 240 ELSNSTVYFL NLFNHTLTCF EHNLQGNAHS LLQTKNYSEV CKNCREAYKT LSSLYSEMQK 250 260 270 280 290 300 MNELENKAEP GTHLCIDVED AMNITRKLWS RTFNCSVPCS DTVPVIAVSV FILFLPVVFY 310 320 330 LSSFLHSEQK KRKLILPKRL KSSTSFANIQ ENSN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human." Chalhoub N., Benachenhou N., Rajapurohitam V., Pata M., Ferron M., Frattini A., Villa A., Vacher J. Nat. Med. 9:399-406(2003) [PubMed: 12627228] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN OPTB5.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[7]	"Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci." Abrahams B.S., Mak G.M., Berry M.L., Palmquist D.L., Saionz J.R., Tay A., Tan Y.H., Brenner S., Simpson E.M., Venkatesh B. Genomics 80:45-53(2002) [PubMed: 12079282] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-334.
[8]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 189-334. Tissue: Umbilical cord blood.
[9]	"Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement." Pangrazio A., Poliani P.L., 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. J. Bone Miner. Res. 21:1098-1105(2006) [PubMed: 16813530] [Abstract] Cited for: INVOLVEMENT IN OPTB5.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-322; SER-323; SER-325 AND SER-333, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-322; SER-323; SER-325 AND SER-333, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-322 AND SER-325, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF533891 mRNA. Translation: AAO72749.1. AY358795 mRNA. Translation: AAQ89155.1. AK075012 mRNA. Translation: BAC11351.1. Z98200 Genomic DNA. Translation: CAI19229.1. CH471051 Genomic DNA. Translation: EAW48389.1. CH471051 Genomic DNA. Translation: EAW48390.1. BC068581 mRNA. Translation: AAH68581.1. BK000461 mRNA. Translation: DAA00039.1. AF077205 mRNA. Translation: AAD27000.1. Frameshift.
IPI	IPI00329054.
RefSeq	NP_054747.2. NM_014028.3.
UniGene	Hs.226780. Hs.706947. Hs.726031.
3D structure databases
ProteinModelPortal	Q86WC4.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86WC4.
PTM databases
PhosphoSite	Q86WC4.
Polymorphism databases
DMDM	51316434.
Proteomic databases
PRIDE	Q86WC4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000193322; ENSP00000193322; ENSG00000081087.
GeneID	28962.
KEGG	hsa:28962.
UCSC	uc003psd.1. human.
Organism-specific databases
CTD	28962.
GeneCards	GC06M108409.
H-InvDB	HIX0006115.
HGNC	HGNC:21652. OSTM1.
HPA	HPA010851.
MIM	259720. phenotype. 607649. gene.
neXtProt	NX_Q86WC4.
Orphanet	667. Autosomal recessive malignant osteopetrosis.
PharmGKB	PA134941162.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000012341.
HOGENOM	HBG268160.
HOVERGEN	HBG053380.
InParanoid	Q86WC4.
OMA	WQEANCA.
OrthoDB	EOG4J3WHT.
PhylomeDB	Q86WC4.
Gene expression databases
ArrayExpress	Q86WC4.
Bgee	Q86WC4.
CleanEx	HS_OSTM1.
Genevestigator	Q86WC4.
GermOnline	ENSG00000081087. Homo sapiens.
Family and domain databases
InterPro	IPR019172. Osteopetrosis-assoc_TM_1. [Graphical view]
Pfam	PF09777. OSTMP1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	51803.
SOURCE	Search...

Entry information

Entry name

OSTM1_HUMAN

Accession

Primary (citable) accession number: Q86WC4
Secondary accession number(s): E1P5E3 , Q5R391, Q6PCA7, Q7RTW6, Q8NC29, Q8TC82, Q9Y2S9

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	June 1, 2003
Last modified:	January 25, 2012
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.