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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046914
UUCD1 version UUC-HoS-00201
Ensembl Protein ID ENSP00000193322.3
UniProt Accession Q86WC4; E1P5E3; Q5R391; Q6PCA7; Q7RTW6; Q8NC29; Q8TC82; Q9Y2S9; OSTM1_HUMAN
Genbank Protein ID AAO72749.1; AAQ89155.1; BAC11351.1; CAI19229.1; EAW48389.1; EAW48390.1; AAH68581.1; DAA00039.1; AAD27000.1
Protein Name Osteopetrosis-associated transmembrane protein 1; Chloride channel 7 beta subunit
Genbank Nucleotide ID AF533891; AY358795; AK075012; Z98200; CH471051; CH471051; BC068581; BK000461; AF077205
Gene Name OSTM1; GL; HSPC019; UNQ6098/PRO21201
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000081087.14 ENST00000193322.7 ENSP00000193322.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircRNADbCircNet
miRTarBasemicroRNATRANSFACTargetScan
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRIDmUbiSiDa
DNA Methylation
TCGAICGC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/RING RING 12826607
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Required for osteoclast and melanocyte maturation and function.
 Required for osteoclast and melanocyte maturation and function.
Protein Sequence
(Fasta)
MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ QLLEVEDLSL 60
SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG CLVRSARPVR LCQTCYPLFQ 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046914|E3,RING|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGAAAGTGTG AATATGGGAG TGTGGCTCTG TGCGTGCGTG ATGGTGAGGA CGGTGCGGCT 60
CGTAATAAAA ATGAATTCGT ATATTTCACG GCAAGAAGGA AGGGGAGGGG TGACGGGGCT 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046914|E3,RING|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0181--Complete proteome
KW-0325--Glycoprotein
KW-0458--Lysosome
KW-0472--Membrane
KW-0987--Osteopetrosis
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0732--Signal
KW-0812--Transmembrane
KW-1133--Transmembrane helix
Interpro

IPR027267--AH/BAR-dom
IPR019172--Osteopetrosis-assoc_TM_1
Pfam

PF09777--OSTMP1
Gene Ontology

GO:0005829--C:cytosol
GO:0016021--C:integral component of membrane
GO:0005765--C:lysosomal membrane
GO:0034220--P:ion transmembrane transport
GO:0030316--P:osteoclast differentiation
KEGG hsa:28962
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001759 Ailuropoda melanoleuca 93.24 3.00e-128 451.00
IUUC-Apl-003775 Anas platyrhynchos 71.07 6.00e-79 286.00
IUUC-Aca-004332 Anolis carolinensis 65.06 2.00e-82 298.00
IUUC-Afl-008451 Aspergillus flavus 28.57 1.70e-01 29.60
IUUC-Ame-011653 Astyanax mexicanus 45.78 8.00e-56 210.00
IUUC-Bta-012852 Bos taurus 90.30 2.00e-123 435.00
IUUC-Cel-018694 Caenorhabditis elegans 23.30 2.00e-06 46.20
IUUC-Cja-019276 Callithrix jacchus 89.85 1.00e-136 479.00
IUUC-Cfa-020815 Canis familiaris 93.24 3.00e-134 471.00
IUUC-Cpo-022419 Cavia porcellus 88.78 7.00e-135 473.00
IUUC-Csa-023740 Chlorocebus sabaeus 99.10 1.00e-140 492.00
IUUC-Cho-024985 Choloepus hoffmanni 76.00 1.00e-74 272.00
IUUC-Cin-025525 Ciona intestinalis 25.89 1.00e-19 90.10
IUUC-Dre-027601 Danio rerio 47.18 4.00e-58 218.00
IUUC-Dno-029740 Dasypus novemcinctus 90.00 4.00e-126 444.00
IUUC-Dme-031960 Drosophila melanogaster 26.29 1.00e-20 94.00
IUUC-Ete-032806 Echinops telfairi 85.37 2.00e-37 149.00
IUUC-Eca-033715 Equus caballus 91.87 1.00e-104 371.00
IUUC-Eeu-034834 Erinaceus europaeus 84.00 2.00e-87 314.00
IUUC-Fca-035941 Felis catus 92.08 8.00e-130 456.00
IUUC-Fal-037032 Ficedula albicollis 65.73 1.00e-81 295.00
IUUC-Gmo-039134 Gadus morhua 44.58 1.00e-39 155.00
IUUC-Gga-040226 Gallus gallus 65.56 2.00e-93 335.00
IUUC-Gac-041407 Gasterosteus aculeatus 52.12 8.00e-47 179.00
IUUC-Ggo-044928 Gorilla gorilla 99.24 3.00e-106 377.00
IUUC-Itr-048528 Ictidomys tridecemlineatus 89.07 1.00e-117 416.00
IUUC-Loc-052432 Lepisosteus oculatus 47.81 2.00e-59 222.00
IUUC-Laf-053465 Loxodonta africana 90.00 5.00e-127 447.00
IUUC-Mcc-055864 Macaca mulatta 99.10 1.00e-140 492.00
IUUC-Meu-056213 Macropus eugenii 70.63 7.00e-90 323.00
IUUC-Mga-059980 Meleagris gallopavo 68.53 3.00e-78 284.00
IUUC-Mmr-061137 Microcebus murinus 94.67 5.00e-129 454.00
IUUC-Mdo-062092 Monodelphis domestica 87.30 4.00e-117 414.00
IUUC-Mmu-064141 Mus musculus 80.67 1.00e-107 382.00
IUUC-Mpu-066805 Mustela putorius furo 92.23 3.00e-126 444.00
IUUC-Mlu-067508 Myotis lucifugus 84.73 2.00e-122 432.00
IUUC-Nle-069103 Nomascus leucogenys 93.11 3.00e-142 498.00
IUUC-Opr-071173 Ochotona princeps 89.70 1.00e-130 459.00
IUUC-Ont-072020 Oreochromis niloticus 48.61 5.00e-60 224.00
IUUC-Oan-072784 Ornithorhynchus anatinus 79.28 2.00e-94 338.00
IUUC-Ocu-074789 Oryctolagus cuniculus 92.74 6.00e-132 463.00
IUUC-Ogl-077556 Oryza glaberrima 25.81 1.00e-03 38.10
IUUC-Ogu-078131 Oryza glumaepatula 25.81 1.00e-03 38.10
IUUC-Oin-079056 Oryza indica 25.81 8.00e-04 38.10
IUUC-Olo-080607 Oryza longistaminata 25.81 1.60e-02 34.30
IUUC-Ome-081231 Oryza meridionalis 28.75 3.00e-03 36.20
IUUC-Oni-082625 Oryza nivara 25.81 9.00e-04 38.50
IUUC-Osa-086231 Oryza sativa 25.81 1.00e-03 38.10
IUUC-Ola-086803 Oryzias latipes 53.61 2.00e-47 181.00
IUUC-Oga-088118 Otolemur garnettii 93.11 3.00e-138 484.00
IUUC-Oar-090015 Ovis aries 90.98 2.00e-120 425.00
IUUC-Ptr-090463 Pan troglodytes 99.70 2.00e-141 494.00
IUUC-Pan-092643 Papio anubis 98.20 1.00e-138 485.00
IUUC-Psi-093810 Pelodiscus sinensis 70.65 9.00e-75 272.00
IUUC-Ppa-096024 Physcomitrella patens 25.69 8.90e-02 31.20
IUUC-Pfo-096141 Poecilia formosa 45.42 6.00e-55 207.00
IUUC-Pab-098266 Pongo abelii 86.83 2.00e-117 415.00
IUUC-Pva-102422 Pteropus vampyrus 89.82 2.00e-132 464.00
IUUC-Rno-105480 Rattus norvegicus 82.84 6.00e-113 400.00
IUUC-Sce-106286 Saccharomyces cerevisiae 25.62 2.90e-02 32.30
IUUC-Sar-113727 Sorex araneus 85.32 1.00e-122 432.00
IUUC-Ssc-115531 Sus scrofa 86.57 6.00e-126 443.00
IUUC-Tgu-116498 Taeniopygia guttata 65.06 2.00e-93 335.00
IUUC-Tru-117582 Takifugu rubripes 45.16 2.00e-52 199.00
IUUC-Tsy-119266 Tarsius syrichta 93.36 2.00e-130 458.00
IUUC-Tbe-127581 Tupaia belangeri 66.93 8.00e-87 313.00
IUUC-Ttr-129049 Tursiops truncatus 82.67 4.00e-110 391.00
IUUC-Vpa-130701 Vicugna pacos 88.67 2.00e-130 458.00
IUUC-Xtr-132591 Xenopus tropicalis 52.78 1.00e-62 233.00
Created Date 25-Jun-2017

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